Variant report

Variant	esv3405374
Chromosome Location	chr7:100290641-100293189
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:417)
CpG islands
(count:488)
Chromatin interactive
region (count:48)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:417 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr7:100293007-100293522	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF2	chr7:100293181-100293783	GM12878	blood:	n/a	n/a
3	ATF3	chr7:100291794-100291938	K562	blood:	n/a	chr7:100291894-100291914
4	ATF3	chr7:100291966-100292343	K562	blood:	n/a	chr7:100292108-100292117
5	ATF3	chr7:100291896-100292366	H1-hESC	embryonic stem cell:	n/a	chr7:100292108-100292117
6	ATF3	chr7:100291987-100292415	HepG2	liver:	n/a	chr7:100292108-100292117
7	ATF3	chr7:100292007-100292275	GM12878	blood:	n/a	chr7:100292108-100292117
8	ATF3	chr7:100292020-100292321	H1-hESC	embryonic stem cell:	n/a	chr7:100292108-100292117
9	ATF3	chr7:100291793-100292401	GM12878	blood:	n/a	chr7:100291894-100291914 chr7:100292108-100292117
10	ATF3	chr7:100291810-100291931	GM12878	blood:	n/a	chr7:100291894-100291914
11	ATF3	chr7:100291721-100292277	HepG2	liver:	n/a	chr7:100291894-100291914 chr7:100292108-100292117
12	BHLHE40	chr7:100291857-100292379	K562	blood:	n/a	chr7:100292015-100292031
13	BHLHE40	chr7:100291863-100292368	GM12878	blood:	n/a	chr7:100292015-100292031
14	BHLHE40	chr7:100291873-100292385	HepG2	liver:	n/a	chr7:100292015-100292031
15	BHLHE40	chr7:100293150-100293618	GM12878	blood:	n/a	n/a
16	BHLHE40	chr7:100291993-100292228	HepG2	liver:	n/a	chr7:100292015-100292031
17	CBX3	chr7:100292104-100292379	K562	blood:	n/a	n/a
18	CBX3	chr7:100291959-100292699	K562	blood:	n/a	n/a
19	CCNT2	chr7:100291240-100292343	K562	blood:	n/a	chr7:100291296-100291305 chr7:100292209-100292218
20	CEBPD	chr7:100291957-100292347	HepG2	liver:	n/a	n/a
21	CHD1	chr7:100291458-100291513	H1-hESC	embryonic stem cell:	n/a	n/a
22	CHD1	chr7:100291449-100291472	GM12878	blood:	n/a	n/a
23	CHD2	chr7:100292011-100292341	Hela-S3	cervix:	n/a	chr7:100292203-100292213 chr7:100292106-100292116
24	CHD2	chr7:100292154-100292332	K562	blood:	n/a	chr7:100292203-100292213
25	CREB1	chr7:100291660-100292400	HepG2	liver:	n/a	n/a
26	CREB1	chr7:100291702-100292332	A549	lung:	n/a	n/a
27	CTCF	chr7:100291360-100291510	GM12865	blood:	n/a	n/a
28	CTCF	chr7:100291254-100291329	GM10266	blood:	n/a	chr7:100291304-100291317
29	CTCF	chr7:100291180-100291330	Caco-2	colon:	n/a	chr7:100291304-100291317
30	CTCF	chr7:100290660-100290810	AG09319	gingival:	n/a	n/a
31	CTCF	chr7:100290720-100290870	HEEpiC	esophagus:	n/a	n/a
32	CTCF	chr7:100291180-100291330	HMEC	breast:	n/a	chr7:100291304-100291317
33	CTCF	chr7:100290720-100290870	HAc	cerebellar:	n/a	n/a
34	CTCF	chr7:100292534-100292552	Lung_OC	lung:	n/a	n/a
35	CTCF	chr7:100290700-100290850	HBMEC	blood vessel:	n/a	n/a
36	CTCF	chr7:100291837-100291868	GM19239	blood:	n/a	n/a
37	CTCF	chr7:100290680-100290830	SK-N-SH_RA	brain:	n/a	n/a
38	CTCF	chr7:100291200-100291350	AG09319	gingival:	n/a	chr7:100291304-100291317
39	CTCF	chr7:100288330-100291509	SK-N-SH	brain:	n/a	chr7:100289445-100289463 chr7:100289242-100289255 chr7:100289447-100289460 chr7:100291304-100291317 chr7:100289217-100289230 chr7:100288748-100288756 chr7:100289440-100289461
40	CTCF	chr7:100290720-100290870	AoAF	blood vessel:	n/a	n/a
41	CTCF	chr7:100291200-100291350	RPTEC	kidney:	n/a	chr7:100291304-100291317
42	CTCFL	chr7:100292052-100292212	K562	blood:	n/a	n/a
43	E2F1	chr7:100291340-100292204	Hela-S3	cervix:	n/a	chr7:100291512-100291522 chr7:100291534-100291546 chr7:100291514-100291523 chr7:100291416-100291426
44	E2F4	chr7:100292190-100292375	MCF10A-Er-Src	breast:	n/a	n/a
45	E2F4	chr7:100291805-100292313	K562	blood:	n/a	n/a
46	E2F6	chr7:100291830-100292400	K562	blood:	n/a	n/a
47	E2F6	chr7:100291988-100292411	A549	lung:	n/a	n/a
48	E2F6	chr7:100291832-100292525	H1-hESC	embryonic stem cell:	n/a	n/a
49	E2F6	chr7:100291256-100292341	K562	blood:	n/a	chr7:100291512-100291522 chr7:100291534-100291546 chr7:100291514-100291523 chr7:100291416-100291426
50	E2F6	chr7:100292951-100293543	H1-hESC	embryonic stem cell:	n/a	n/a

(count:488 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:100291905-100291955	HCM	heart:	n/a
2	chr7:100291438-100291488	K562	blood:	n/a
3	chr7:100291848-100291898	GM19239	blood:	n/a
4	chr7:100290845-100290895	H1-hESC	embryonic stem cell:	embryo
5	chr7:100292265-100292315	A549	lung:	n/a
6	chr7:100291848-100291898	CMK	blood:	n/a
7	chr7:100291184-100291234	Jurkat	blood:	n/a
8	chr7:100292329-100292379	MCF-7	breast:	n/a
9	chr7:100291438-100291488	HMEC	breast:	n/a
10	chr7:100292265-100292315	PrEC	prostate:	n/a
11	chr7:100291848-100291898	A549	lung:	n/a
12	chr7:100290845-100290895	HEEpiC	esophagus:	n/a
13	chr7:100291438-100291488	PANC-1	pancreas:	n/a
14	chr7:100292265-100292315	SK-N-SH_RA	brain:	n/a
15	chr7:100292329-100292379	NHBE	bronchial:	n/a
16	chr7:100291848-100291898	HNPCEpiC	eye:	n/a
17	chr7:100290845-100290895	Caco-2	colon:	n/a
18	chr7:100290845-100290895	A549	lung:	n/a
19	chr7:100292329-100292379	HRCEpiC	kidney:	n/a
20	chr7:100290845-100290895	ProgFib	skin:	n/a
21	chr7:100291891-100291941	NHDF-neo	bronchial:	n/a
22	chr7:100291184-100291234	ECC-1	luminal epithelium:	n/a
23	chr7:100291891-100291941	Caco-2	colon:	n/a
24	chr7:100290845-100290895	HNPCEpiC	eye:	n/a
25	chr7:100291184-100291234	HUVEC	blood vessel:	n/a
26	chr7:100291438-100291488	AG04450	lung:	fetal
27	chr7:100290845-100290895	Hepatocyte	liver:	n/a
28	chr7:100292265-100292315	GM12891	blood:	n/a
29	chr7:100291438-100291488	PrEC	prostate:	n/a
30	chr7:100290845-100290895	HL-60	blood:	n/a
31	chr7:100291905-100291955	Caco-2	colon:	n/a
32	chr7:100291184-100291234	AoSMC	blood vessel:	n/a
33	chr7:100290845-100290895	NH-A	brain:	n/a
34	chr7:100292329-100292379	HPAEpiC	pulmonary alveolar:	n/a
35	chr7:100292329-100292379	IMR90	lung:	fetal
36	chr7:100291905-100291955	CMK	blood:	n/a
37	chr7:100291848-100291898	SAEC	small airway:	n/a
38	chr7:100291438-100291488	ProgFib	skin:	n/a
39	chr7:100292265-100292315	Caco-2	colon:	n/a
40	chr7:100291184-100291234	A549	lung:	n/a
41	chr7:100292329-100292379	RPTEC	kidney:	n/a
42	chr7:100291891-100291941	HCT-116	colon:	n/a
43	chr7:100292329-100292379	A549	lung:	n/a
44	chr7:100291891-100291941	HRPEpiC	eye:	n/a
45	chr7:100291184-100291234	HCPEpiC	choroid plexus:	n/a
46	chr7:100292329-100292379	SK-N-MC	brain:	n/a
47	chr7:100291184-100291234	BE2_C	brain:	n/a
48	chr7:100291184-100291234	AG09319	gingival:	n/a
49	chr7:100292265-100292315	MCF-7	breast:	n/a
50	chr7:100290845-100290895	HRCEpiC	kidney:	n/a

(count:48 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100290049..100291654-chr7:100463321..100465099,2	MCF-7	breast:
2	chr7:100222173..100224759-chr7:100289298..100291069,2	K562	blood:
3	chr7:100291734..100293834-chr7:100411313..100413984,2	MCF-7	breast:
4	chr6:26053433..26055851-chr7:100290372..100293044,2	MCF-7	breast:
5	chr7:100080135..100081654-chr7:100290333..100292892,2	MCF-7	breast:
6	chr7:100289903..100293628-chr7:100299918..100304988,11	K562	blood:
7	chr7:100025861..100030068-chr7:100288797..100293203,7	K562	blood:
8	chr7:100288321..100291208-chr7:100293573..100296644,3	K562	blood:
9	chr7:100025163..100029050-chr7:100284721..100290800,5	MCF-7	breast:
10	chr7:100144116..100146517-chr7:100289943..100291876,2	K562	blood:
11	chr7:100208850..100211238-chr7:100289549..100292875,4	K562	blood:
12	chr7:100288252..100292867-chr7:100319528..100322364,4	K562	blood:
13	chr7:100222794..100225924-chr7:100289657..100292852,4	MCF-7	breast:
14	chr7:100198433..100204411-chr7:100285757..100293733,14	K562	blood:
15	chr7:100197481..100201934-chr7:100289981..100293981,6	MCF-7	breast:
16	chr7:100199953..100202324-chr7:100288023..100291009,2	MCF-7	breast:
17	chr7:100162910..100168606-chr7:100287546..100292436,6	MCF-7	breast:
18	chr7:100288390..100292044-chr7:100484527..100487788,3	MCF-7	breast:
19	chr7:100179120..100183907-chr7:100289595..100293366,6	MCF-7	breast:
20	chr7:100027286..100029611-chr7:100288264..100290842,2	MCF-7	breast:
21	chr7:100184159..100186286-chr7:100289610..100292155,2	MCF-7	breast:
22	chr7:100291635..100293380-chr7:100321369..100322955,2	MCF-7	breast:
23	chr7:100068696..100070699-chr7:100288610..100291361,2	MCF-7	breast:
24	chr20:47894371..47895084-chr7:100291569..100292239,2	HCT-116	colon:
25	chr7:100199658..100204753-chr7:100287607..100293733,10	K562	blood:
26	chr7:100181942..100185382-chr7:100289663..100293010,6	K562	blood:
27	chr7:100207033..100212293-chr7:100287661..100294075,8	MCF-7	breast:
28	chr7:100183057..100185845-chr7:100291476..100293682,3	MCF-7	breast:
29	chr7:100288044..100289593-chr7:100290175..100291688,2	K562	blood:
30	chr7:100292109..100293642-chr7:100462189..100464679,2	MCF-7	breast:
31	chr7:100289314..100293442-chr7:100296051..100298941,4	MCF-7	breast:
32	chr7:100031056..100033045-chr7:100289882..100292059,2	K562	blood:
33	chr7:100291258..100294008-chr7:100480725..100482428,2	MCF-7	breast:
34	chr7:100247255..100249496-chr7:100290650..100293134,2	K562	blood:
35	chr7:100288932..100290679-chr7:100483688..100485716,2	K562	blood:
36	chr7:100254369..100255974-chr7:100290427..100292129,2	K562	blood:
37	chr7:100287688..100293699-chr7:100300603..100306359,15	MCF-7	breast:
38	chr7:100180869..100184882-chr7:100287482..100291355,9	MCF-7	breast:
39	chr7:100239190..100240878-chr7:100289804..100292344,2	MCF-7	breast:
40	chr7:100034415..100037250-chr7:100289483..100291820,2	MCF-7	breast:
41	chr7:100290034..100292271-chr7:100471770..100473597,2	MCF-7	breast:
42	chr7:100289903..100293307-chr7:100301970..100305114,7	K562	blood:
43	chr7:100289891..100291847-chr7:100416190..100417802,2	K562	blood:
44	chr7:100288992..100293891-chr7:100317292..100321001,4	MCF-7	breast:
45	chr7:100025034..100028922-chr7:100288914..100292951,6	K562	blood:
46	chr7:100182628..100184656-chr7:100289002..100291163,2	K562	blood:
47	chr7:100177845..100180104-chr7:100290366..100293709,4	MCF-7	breast:
48	chr7:100290419..100293382-chr7:100421709..100425907,4	MCF-7	breast:

No data

Variant related genes	Relation type
GIGYF1	TF binding region
GIGYF1	CpG island
ENSG00000177410	chromatin interactions
ENSG00000106336	chromatin interactions
ENSG00000224729	chromatin interactions
ENSG00000077454	chromatin interactions
ENSG00000184414	chromatin interactions
ENSG00000078487	chromatin interactions
ENSG00000172336	chromatin interactions
ENSG00000146834	chromatin interactions
ENSG00000106327	chromatin interactions
ENSG00000146828	chromatin interactions
ENSG00000266372	chromatin interactions
ENSG00000130427	chromatin interactions
ENSG00000176125	chromatin interactions
ENSG00000166924	chromatin interactions
ENSG00000087077	chromatin interactions
ENSG00000106333	chromatin interactions
ENSG00000196411	chromatin interactions
ENSG00000241357	chromatin interactions
ENSG00000124201	chromatin interactions
ENSG00000106330	chromatin interactions
ENSG00000087087	chromatin interactions

Extended variants
information (count: 86 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139199193	chr7:100290685-100290686	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
2	rs552885669	chr7:100290690-100290691	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
3	rs574359140	chr7:100290716-100290717	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
4	rs191730868	chr7:100290733-100290734	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
5	rs553620162	chr7:100290758-100290759	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
6	rs572043633	chr7:100290778-100290779	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
7	rs182190081	chr7:100290794-100290795	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
8	rs540225068	chr7:100290856-100290857	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
9	rs370816252	chr7:100290867-100290868	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
10	rs575409176	chr7:100290880-100290881	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
11	rs560178997	chr7:100290882-100290883	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
12	rs186090907	chr7:100290908-100290909	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
13	rs374404796	chr7:100290920-100290921	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
14	rs11284657	chr7:100290921-100290922	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
15	rs542621484	chr7:100290922-100290923	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
16	rs201386214	chr7:100290923-100290924	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
17	rs115905345	chr7:100290924-100290925	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
18	rs221802	chr7:100290925-100290926	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
19	rs114129687	chr7:100290926-100290927	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
20	rs199758296	chr7:100290935-100290936	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
21	rs528555317	chr7:100290939-100290940	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
22	rs369600370	chr7:100290981-100290982	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
23	rs540382974	chr7:100290997-100290998	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
24	rs562107229	chr7:100290999-100291000	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
25	rs577172455	chr7:100291012-100291013	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
26	rs532289707	chr7:100291042-100291043	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
27	rs58602862	chr7:100291048-100291049	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
28	rs142499837	chr7:100291071-100291072	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
29	rs189716492	chr7:100291096-100291097	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
30	rs530844424	chr7:100291124-100291125	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
31	rs552372675	chr7:100291136-100291137	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
32	rs113907732	chr7:100291153-100291154	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
33	rs221803	chr7:100291200-100291201	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	20 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs534674090	chr7:100291202-100291203	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
35	rs367730907	chr7:100291214-100291215	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
36	rs552833461	chr7:100291264-100291265	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
37	rs568043490	chr7:100291269-100291270	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
38	rs113750037	chr7:100291460-100291461	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
39	rs186622817	chr7:100291485-100291486	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
40	rs113371859	chr7:100291615-100291616	Weak transcription Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
41	rs191319537	chr7:100291636-100291637	Weak transcription Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
42	rs183181389	chr7:100291702-100291703	Weak transcription Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
43	rs200727756	chr7:100291793-100291794	Weak transcription Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
44	rs188458074	chr7:100291827-100291828	Weak transcription Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
45	rs546108497	chr7:100291828-100291829	Weak transcription Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
46	rs545497452	chr7:100291832-100291833	Weak transcription Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
47	rs557892428	chr7:100292068-100292069	Weak transcription Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
48	rs368401424	chr7:100292098-100292099	Weak transcription Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
49	rs58547229	chr7:100292195-100292196	Weak transcription Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
50	rs61422411	chr7:100292197-100292198	Weak transcription Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Breast cancer	21509527	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:426 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100287800-100290800	Enhancers	Liver	Liver
2	chr7:100288400-100290800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr7:100288600-100290800	Enhancers	Placenta Amnion	Placenta Amnion
4	chr7:100288600-100290800	Flanking Active TSS	HepG2	liver
5	chr7:100288600-100291200	Flanking Active TSS	Stomach Smooth Muscle	stomach
6	chr7:100288800-100290800	Flanking Active TSS	Fetal Brain Female	brain
7	chr7:100288800-100290800	Enhancers	Gastric	stomach
8	chr7:100288800-100290800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr7:100288800-100290800	Transcr. at gene 5' and 3'	Dnd41	blood
10	chr7:100288800-100291000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr7:100288800-100291000	Enhancers	Spleen	Spleen
12	chr7:100289000-100290800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr7:100289000-100290800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr7:100289000-100290800	Enhancers	Primary B cells from peripheral blood	blood
15	chr7:100289000-100290800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr7:100289000-100290800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr7:100289200-100290800	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:100289200-100290800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr7:100289200-100290800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
20	chr7:100289200-100290800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr7:100289200-100290800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
22	chr7:100289200-100290800	Flanking Active TSS	Thymus	Thymus
23	chr7:100289200-100290800	Flanking Active TSS	NHLF	lung
24	chr7:100289200-100291000	Flanking Active TSS	Brain Germinal Matrix	brain
25	chr7:100289200-100291000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr7:100289200-100291200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr7:100289400-100290800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr7:100289400-100290800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr7:100289400-100290800	Flanking Active TSS	Brain Anterior Caudate	brain
30	chr7:100289400-100290800	Flanking Active TSS	Brain Cingulate Gyrus	brain
31	chr7:100289400-100290800	Flanking Active TSS	Brain Hippocampus Middle	brain
32	chr7:100289400-100290800	Flanking Active TSS	NHDF-Ad	bronchial
33	chr7:100289400-100291000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr7:100289400-100291200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
35	chr7:100289400-100291200	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr7:100289400-100291400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr7:100289400-100291600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
38	chr7:100289600-100290800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr7:100289600-100290800	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr7:100289600-100290800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chr7:100289600-100290800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr7:100289600-100290800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr7:100289600-100290800	Flanking Active TSS	Brain Angular Gyrus	brain
44	chr7:100289600-100290800	Flanking Active TSS	Fetal Intestine Large	intestine
45	chr7:100289600-100290800	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
46	chr7:100289600-100290800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
47	chr7:100289600-100290800	Flanking Active TSS	Rectal Smooth Muscle	rectum
48	chr7:100289600-100290800	Flanking Active TSS	HMEC	breast
49	chr7:100289600-100290800	Flanking Active TSS	HSMM	muscle
50	chr7:100289600-100290800	Flanking Active TSS	NHEK	skin

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