Variant report

Variant	esv3329035
Chromosome Location	chr7:138144237-138146785
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:873)
CpG islands
(count:429)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:873 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:138144269-138145216	HepG2	liver:	n/a	n/a
2	ARID3A	chr7:138146060-138146622	K562	blood:	n/a	n/a
3	ARID3A	chr7:138144399-138145323	K562	blood:	n/a	n/a
4	ATF1	chr7:138144509-138145080	K562	blood:	n/a	n/a
5	ATF2	chr7:138143261-138144814	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF3	chr7:138145604-138145943	K562	blood:	n/a	chr7:138145705-138145714
7	BACH1	chr7:138144951-138145235	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr7:138144301-138144684	K562	blood:	n/a	n/a
9	BACH1	chr7:138144984-138145184	K562	blood:	n/a	n/a
10	BATF	chr7:138144278-138144581	GM12878	blood:	n/a	n/a
11	BATF	chr7:138144270-138144717	GM12878	blood:	n/a	n/a
12	BATF	chr7:138144961-138145158	GM12878	blood:	n/a	n/a
13	BCLAF1	chr7:138144929-138145414	GM12878	blood:	n/a	chr7:138145238-138145247 chr7:138145240-138145253
14	BCLAF1	chr7:138145464-138145827	GM12878	blood:	n/a	chr7:138145667-138145680 chr7:138145669-138145682
15	BCLAF1	chr7:138144994-138146274	K562	blood:	n/a	chr7:138145238-138145247 chr7:138145667-138145680 chr7:138145240-138145253 chr7:138145669-138145682
16	BCLAF1	chr7:138144307-138144755	GM12878	blood:	n/a	chr7:138144349-138144358
17	BHLHE40	chr7:138144346-138146061	GM12878	blood:	n/a	chr7:138145667-138145683 chr7:138144819-138144835 chr7:138145666-138145682
18	BHLHE40	chr7:138144563-138145328	K562	blood:	n/a	chr7:138144819-138144835
19	BHLHE40	chr7:138145608-138146216	K562	blood:	n/a	chr7:138145667-138145683 chr7:138145666-138145682
20	BRCA1	chr7:138144158-138144944	H1-hESC	embryonic stem cell:	n/a	n/a
21	BRCA1	chr7:138144633-138145017	GM12878	blood:	n/a	n/a
22	BRCA1	chr7:138144341-138145273	Hela-S3	cervix:	n/a	n/a
23	BRCA1	chr7:138145916-138145953	GM12878	blood:	n/a	n/a
24	BRCA1	chr7:138145924-138146252	Hela-S3	cervix:	n/a	n/a
25	BRCA1	chr7:138144481-138145267	HepG2	liver:	n/a	n/a
26	CBX3	chr7:138146666-138147146	K562	blood:	n/a	n/a
27	CBX3	chr7:138144152-138146573	K562	blood:	n/a	n/a
28	CBX3	chr7:138144949-138145305	K562	blood:	n/a	n/a
29	CBX3	chr7:138144377-138144806	K562	blood:	n/a	n/a
30	CCNT2	chr7:138144442-138146259	K562	blood:	n/a	chr7:138144776-138144785
31	CEBPB	chr7:138144420-138144780	A549	lung:	n/a	n/a
32	CEBPB	chr7:138144437-138144770	HepG2	liver:	n/a	n/a
33	CEBPB	chr7:138145715-138146274	Hela-S3	cervix:	n/a	n/a
34	CEBPB	chr7:138144351-138144771	K562	blood:	n/a	n/a
35	CEBPB	chr7:138144239-138144808	K562	blood:	n/a	n/a
36	CEBPB	chr7:138144357-138145248	Hela-S3	cervix:	n/a	n/a
37	CEBPD	chr7:138144828-138145363	HepG2	liver:	n/a	n/a
38	CEBPD	chr7:138144878-138145414	K562	blood:	n/a	n/a
39	CEBPD	chr7:138145536-138146310	K562	blood:	n/a	n/a
40	CEBPD	chr7:138144903-138145171	HepG2	liver:	n/a	n/a
41	CHD1	chr7:138143330-138144695	H1-hESC	embryonic stem cell:	n/a	n/a
42	CHD1	chr7:138145856-138147050	H1-hESC	embryonic stem cell:	n/a	n/a
43	CHD1	chr7:138145055-138145299	H1-hESC	embryonic stem cell:	n/a	n/a
44	CHD1	chr7:138145002-138146295	GM12878	blood:	n/a	chr7:138145774-138145784
45	CHD2	chr7:138146663-138146904	K562	blood:	n/a	n/a
46	CHD2	chr7:138145648-138146025	HepG2	liver:	n/a	chr7:138145774-138145784
47	CHD2	chr7:138144393-138145324	H1-hESC	embryonic stem cell:	n/a	n/a
48	CHD2	chr7:138144360-138145363	K562	blood:	n/a	n/a
49	CHD2	chr7:138144404-138146252	Hela-S3	cervix:	n/a	chr7:138145774-138145784
50	CHD2	chr7:138144490-138146194	GM12878	blood:	n/a	chr7:138145774-138145784

(count:429 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:138145031-138145081	Caco-2	colon:	n/a
2	chr7:138145531-138145581	A549	lung:	n/a
3	chr7:138145031-138145081	Caco-2	colon:	n/a
4	chr7:138145531-138145581	A549	lung:	n/a
5	chr7:138144619-138144669	AoSMC	blood vessel:	n/a
6	chr7:138144684-138144734	HNPCEpiC	eye:	n/a
7	chr7:138144670-138144720	A549	lung:	n/a
8	chr7:138145531-138145581	HCM	heart:	n/a
9	chr7:138144670-138144720	MCF10A-Er-Src	breast:	n/a
10	chr7:138145433-138145483	PrEC	prostate:	n/a
11	chr7:138145433-138145483	HRCEpiC	kidney:	n/a
12	chr7:138144619-138144669	HMEC	breast:	n/a
13	chr7:138145531-138145581	PrEC	prostate:	n/a
14	chr7:138144670-138144720	AG09309	skin:	n/a
15	chr7:138144670-138144720	SAEC	small airway:	n/a
16	chr7:138144684-138144734	GM12878	blood:	n/a
17	chr7:138145433-138145483	GM12878	blood:	n/a
18	chr7:138144684-138144734	PFSK-1	brain:	n/a
19	chr7:138144684-138144734	K562	blood:	n/a
20	chr7:138144670-138144720	AG09319	gingival:	n/a
21	chr7:138145031-138145081	HCPEpiC	choroid plexus:	n/a
22	chr7:138144670-138144720	HNPCEpiC	eye:	n/a
23	chr7:138145918-138145968	HCPEpiC	choroid plexus:	n/a
24	chr7:138145531-138145581	GM12891	blood:	n/a
25	chr7:138145433-138145483	PFSK-1	brain:	n/a
26	chr7:138145918-138145968	T-47D	breast:	n/a
27	chr7:138144684-138144734	PANC-1	pancreas:	n/a
28	chr7:138145918-138145968	HPAEpiC	pulmonary alveolar:	n/a
29	chr7:138144670-138144720	AG04449	skin:	fetal
30	chr7:138145918-138145968	NB4	blood:	n/a
31	chr7:138145433-138145483	NB4	blood:	n/a
32	chr7:138144619-138144669	HCT-116	colon:	n/a
33	chr7:138145433-138145483	HAEpiC	amniotic membrane:	n/a
34	chr7:138144619-138144669	GM12891	blood:	n/a
35	chr7:138145031-138145081	HMEC	breast:	n/a
36	chr7:138145433-138145483	GM12892	blood:	n/a
37	chr7:138145031-138145081	HEEpiC	esophagus:	n/a
38	chr7:138145531-138145581	LNCaP	prostate:	n/a
39	chr7:138145918-138145968	RPTEC	kidney:	n/a
40	chr7:138145918-138145968	HRCEpiC	kidney:	n/a
41	chr7:138145031-138145081	GM12891	blood:	n/a
42	chr7:138144684-138144734	HepG2	liver:	n/a
43	chr7:138145031-138145081	T-47D	breast:	n/a
44	chr7:138145031-138145081	HIPEpiC	eye:	n/a
45	chr7:138144684-138144734	ovcar-3	ovarian:	n/a
46	chr7:138144684-138144734	HRCEpiC	kidney:	n/a
47	chr7:138145031-138145081	HRE	kidney:	n/a
48	chr7:138144619-138144669	PANC-1	pancreas:	n/a
49	chr7:138145031-138145081	NHBE	bronchial:	n/a
50	chr7:138145531-138145581	U87	brain:	n/a

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:113862501..113863112-chr7:138144535..138145370,2	Hela-S3	cervix:
2	chr1:117664016..117664630-chr7:138144657..138145587,2	Hela-S3	cervix:
3	chr17:74722988..74723715-chr7:138144840..138145706,2	Hela-S3	cervix:
4	chr7:138143601..138146619-chr7:138166848..138169714,4	K562	blood:
5	chr1:11967906..11968470-chr7:138144770..138145628,2	Hela-S3	cervix:
6	chr7:138145878..138147701-chr7:138231100..138232665,2	K562	blood:
7	chr7:138145133..138145677-chr9:100684432..100685419,2	Hela-S3	cervix:
8	chr7:138129342..138131930-chr7:138142283..138144640,2	K562	blood:
9	chr7:138146630..138151356-chr7:138166396..138170036,5	K562	blood:
10	chr1:181057538..181058066-chr7:138144832..138145634,2	Hela-S3	cervix:
11	chr7:137684812..137687576-chr7:138144415..138146987,3	K562	blood:
12	chr7:138145200..138147441-chr7:148394803..148397416,2	K562	blood:
13	chr7:135241103..135243857-chr7:138144835..138146589,2	K562	blood:
14	chr7:138145107..138147351-chr7:148578441..148580863,2	K562	blood:
15	chr14:24610243..24610851-chr7:138145032..138145880,2	Hela-S3	cervix:
16	chr7:138123228..138126392-chr7:138142592..138145835,3	K562	blood:
17	chr7:138145066..138146985-chr7:138197776..138200513,2	MCF-7	breast:
18	chr7:138144628..138146925-chr7:138348716..138351288,3	MCF-7	breast:
19	chr6:27777294..27779689-chr7:138144779..138146981,2	MCF-7	breast:
20	chr7:137774765..137777637-chr7:138144590..138146200,2	MCF-7	breast:
21	chr17:56735218..56737807-chr7:138145782..138147495,2	MCF-7	breast:

No data

Variant related genes	Relation type
TRIM24	TF binding region
TRIM24	CpG island
ENSG00000122779	chromatin interactions
ENSG00000136932	chromatin interactions
ENSG00000126226	chromatin interactions
ENSG00000157703	chromatin interactions
ENSG00000214815	chromatin interactions
ENSG00000182158	chromatin interactions
ENSG00000162783	chromatin interactions
ENSG00000134253	chromatin interactions
ENSG00000122787	chromatin interactions
ENSG00000100908	chromatin interactions
ENSG00000181038	chromatin interactions
ENSG00000239123	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000222514	chromatin interactions
ENSG00000055130	chromatin interactions
ENSG00000106462	chromatin interactions
ENSG00000203813	chromatin interactions
ENSG00000273314	chromatin interactions
ENSG00000199347	chromatin interactions
ENSG00000139842	chromatin interactions
ENSG00000155561	chromatin interactions

Extended variants
information (count: 59 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7798391	chr7:138144257-138144258	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs4732319	chr7:138144296-138144297	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs200748316	chr7:138144388-138144389	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs183661076	chr7:138144438-138144439	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs528473519	chr7:138144447-138144448	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs538292438	chr7:138144453-138144454	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs552030764	chr7:138144522-138144523	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs551708511	chr7:138144524-138144525	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs571995773	chr7:138144531-138144532	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs111667072	chr7:138144546-138144547	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs187316823	chr7:138144550-138144551	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs574132193	chr7:138144591-138144592	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs536739056	chr7:138144595-138144596	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs556421504	chr7:138144657-138144658	Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
15	rs565045247	chr7:138144764-138144765	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
16	rs576369395	chr7:138144771-138144772	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
17	rs545098585	chr7:138144862-138144863	Active TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
18	rs565158406	chr7:138144962-138144963	Active TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
19	rs370008559	chr7:138144968-138144969	Active TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
20	rs190278240	chr7:138144981-138144982	Active TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
21	rs540780945	chr7:138145010-138145011	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
22	rs182495590	chr7:138145074-138145075	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
23	rs529880786	chr7:138145109-138145110	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
24	rs549832552	chr7:138145146-138145147	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
25	rs7799818	chr7:138145153-138145154	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs376495433	chr7:138145458-138145459	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
27	rs532106746	chr7:138145485-138145486	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
28	rs371454056	chr7:138145489-138145490	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
29	rs201426181	chr7:138145513-138145514	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
30	rs374391787	chr7:138145599-138145600	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
31	rs551903708	chr7:138145634-138145635	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
32	rs571932398	chr7:138145729-138145730	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
33	rs550817288	chr7:138145741-138145742	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
34	rs112619223	chr7:138145778-138145779	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
35	rs536384913	chr7:138145844-138145845	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
36	rs567847889	chr7:138145853-138145854	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
37	rs368453514	chr7:138145934-138145935	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
38	rs558159109	chr7:138145935-138145936	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
39	rs371706864	chr7:138145998-138145999	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
40	rs78366360	chr7:138146012-138146013	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
41	rs538989322	chr7:138146071-138146072	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
42	rs374564754	chr7:138146078-138146079	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
43	rs199534134	chr7:138146082-138146083	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
44	rs546705743	chr7:138146159-138146160	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
45	rs558684857	chr7:138146251-138146252	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
46	rs572154912	chr7:138146345-138146346	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
47	rs540919821	chr7:138146414-138146415	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
48	rs186866503	chr7:138146535-138146536	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
49	rs545938818	chr7:138146542-138146543	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
50	rs566506565	chr7:138146586-138146587	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	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
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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	18628472	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Neuroticism	17667963	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute myeloid leukemia	17237825	CNVD
Esophageal cancer	21851588	CNVD
Bladder cancer	21909424	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
T-cell acute lymphoblastic leukemia	16673021	CNVD
Cancer	21183584	CNVD
Intracranial ependymoma	16609018	CNVD
Non-small cell lung cancer	21829676	CNVD
Developmental delay	19490664	CNVD
Pancreatitis	20877625	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Low-grade astrocytoma	19016743	CNVD

Chromatin state (count:272 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:138141200-138144400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:138141200-138144400	Weak transcription	Right Atrium	heart
3	chr7:138141400-138145000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:138142800-138144400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:138143400-138144600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr7:138143400-138148400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr7:138143600-138146000	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr7:138143600-138146600	Active TSS	H1 Cell Line	embryonic stem cell
9	chr7:138143600-138148000	Active TSS	H9 Cell Line	embryonic stem cell
10	chr7:138143600-138148000	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr7:138143600-138148000	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr7:138143600-138149000	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr7:138143600-138150200	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr7:138143800-138144600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
15	chr7:138143800-138146400	Active TSS	NH-A	brain
16	chr7:138143800-138147000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:138143800-138147400	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr7:138143800-138148000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr7:138144000-138144400	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr7:138144000-138144400	Enhancers	Hela-S3	cervix
21	chr7:138144000-138145600	Active TSS	Primary B cells from cord blood	blood
22	chr7:138144000-138146400	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr7:138144000-138146400	Active TSS	Brain Anterior Caudate	brain
24	chr7:138144000-138146400	Active TSS	Monocytes-CD14+_RO01746	blood
25	chr7:138144000-138147400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:138144200-138144400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:138144200-138144400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr7:138144200-138144400	Flanking Active TSS	Primary T cells from cord blood	blood
29	chr7:138144200-138144400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr7:138144200-138144400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr7:138144200-138144400	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr7:138144200-138144400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr7:138144200-138144400	Active TSS	Fetal Brain Male	brain
34	chr7:138144200-138144400	Flanking Active TSS	HepG2	liver
35	chr7:138144200-138144400	Enhancers	HSMM	muscle
36	chr7:138144200-138144400	Enhancers	Osteobl	bone
37	chr7:138144200-138144600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr7:138144200-138144600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr7:138144200-138144600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr7:138144200-138144600	Active TSS	Fetal Heart	heart
41	chr7:138144200-138144600	Flanking Active TSS	Fetal Intestine Large	intestine
42	chr7:138144200-138144600	Flanking Active TSS	Dnd41	blood
43	chr7:138144200-138145400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr7:138144200-138146000	Active TSS	Primary monocytes fromperipheralblood	blood
45	chr7:138144200-138146000	Active TSS	Primary B cells from peripheral blood	blood
46	chr7:138144200-138146000	Active TSS	Primary T cells fromperipheralblood	blood
47	chr7:138144200-138146000	Active TSS	Primary hematopoietic stem cells	blood
48	chr7:138144200-138146000	Active TSS	Primary T helper naive cells from peripheral blood	blood
49	chr7:138144200-138146000	Active TSS	Adipose Nuclei	Adipose
50	chr7:138144200-138146000	Active TSS	Brain Angular Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links