Variant report

Variant	esv3336433
Chromosome Location	chr7:140783089-140892541
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:392)
CpG islands
(count:183)
Chromatin interactive
region (count:55)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:392 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:140797283-140797500	K562	blood:	n/a	n/a
2	ATF1	chr7:140783114-140783483	K562	blood:	n/a	n/a
3	ATF2	chr7:140884317-140884676	GM12878	blood:	n/a	n/a
4	ATF2	chr7:140884263-140884750	GM12878	blood:	n/a	n/a
5	BACH1	chr7:140818605-140818962	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr7:140794499-140794757	H1-hESC	embryonic stem cell:	n/a	n/a
7	BATF	chr7:140884316-140884723	GM12878	blood:	n/a	n/a
8	BCL11A	chr7:140876992-140877170	GM12878	blood:	n/a	n/a
9	BCL11A	chr7:140826507-140826679	GM12878	blood:	n/a	n/a
10	BCL11A	chr7:140783178-140783368	GM12878	blood:	n/a	chr7:140783269-140783278
11	BHLHE40	chr7:140884280-140884667	GM12878	blood:	n/a	n/a
12	BHLHE40	chr7:140826347-140826815	GM12878	blood:	n/a	chr7:140826570-140826583
13	CEBPB	chr7:140793563-140793763	HepG2	liver:	n/a	chr7:140793641-140793652
14	CEBPB	chr7:140858287-140858766	MCF-7	breast:	n/a	n/a
15	CEBPB	chr7:140822266-140822315	A549	lung:	n/a	n/a
16	CEBPB	chr7:140888101-140888288	A549	lung:	n/a	n/a
17	CEBPB	chr7:140865211-140865299	HepG2	liver:	n/a	chr7:140865235-140865246
18	CEBPB	chr7:140813818-140814082	HepG2	liver:	n/a	chr7:140813936-140813953 chr7:140813939-140813950
19	CEBPB	chr7:140858491-140858668	H1-hESC	embryonic stem cell:	n/a	n/a
20	CEBPB	chr7:140813825-140813962	K562	blood:	n/a	chr7:140813936-140813953 chr7:140813939-140813950
21	CEBPB	chr7:140858350-140858751	IMR90	lung:	n/a	n/a
22	CEBPB	chr7:140869824-140869831	A549	lung:	n/a	n/a
23	CHD2	chr7:140797260-140797271	H1-hESC	embryonic stem cell:	n/a	n/a
24	CHD2	chr7:140886129-140886174	GM12878	blood:	n/a	n/a
25	CHD2	chr7:140884241-140884738	GM12878	blood:	n/a	n/a
26	CTCF	chr7:140859420-140859570	Hela-S3	cervix:	n/a	n/a
27	CTCF	chr7:140783216-140783388	Spleen_OC	spleen:	n/a	n/a
28	CTCF	chr7:140832603-140832625	ProgFib	skin:	n/a	n/a
29	CTCF	chr7:140783283-140783371	MCF-7	breast:	n/a	n/a
30	CTCF	chr7:140889314-140889372	K562	blood:	n/a	n/a
31	CTCF	chr7:140783280-140783318	Pancreas_OC	pancreas:	n/a	n/a
32	CTCF	chr7:140790060-140790210	GM06990	blood:	n/a	n/a
33	CTCF	chr7:140832386-140832492	MCF-7	breast:	n/a	n/a
34	CTCF	chr7:140832401-140832478	MCF-7	breast:	n/a	n/a
35	CTCF	chr7:140783206-140783412	ProgFib	skin:	n/a	n/a
36	CTCF	chr7:140823619-140823670	LNCaP	prostate:	n/a	n/a
37	CTCF	chr7:140832370-140832522	MCF-7	breast:	n/a	n/a
38	CTCF	chr7:140867540-140867690	BE2_C	brain:	n/a	chr7:140867586-140867595
39	CTCF	chr7:140783258-140783278	Pancreas_OC	pancreas:	n/a	n/a
40	CTCF	chr7:140783282-140783355	Gliobla	brain:	n/a	n/a
41	CTCF	chr7:140819199-140819504	GM12878	blood:	n/a	n/a
42	CTCF	chr7:140878540-140878690	WERI-Rb-1	eye:	n/a	n/a
43	CTCF	chr7:140783202-140783424	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr7:140783282-140783367	Fibrobl	skin:	n/a	n/a
45	CTCF	chr7:140808757-140808791	GM10248	blood:	n/a	n/a
46	CTCF	chr7:140889140-140889290	WERI-Rb-1	eye:	n/a	n/a
47	CTCF	chr7:140832370-140832498	MCF-7	breast:	n/a	n/a
48	CTCF	chr7:140827460-140827610	BE2_C	brain:	n/a	n/a
49	CTCF	chr7:140790042-140790137	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTCF	chr7:140783206-140783400	MCF-7	breast:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:140819331-140819381	AoSMC	blood vessel:	n/a
2	chr7:140819331-140819381	MCF-7	breast:	n/a
3	chr7:140802949-140802999	GM12891	blood:	n/a
4	chr7:140802949-140802999	HIPEpiC	eye:	n/a
5	chr7:140802949-140802999	HEEpiC	esophagus:	n/a
6	chr7:140802949-140802999	U87	brain:	n/a
7	chr7:140819331-140819381	ProgFib	skin:	n/a
8	chr7:140819331-140819381	RPTEC	kidney:	n/a
9	chr7:140802949-140802999	GM12892	blood:	n/a
10	chr7:140825201-140825251	BJ	skin:	n/a
11	chr7:140819331-140819381	NB4	blood:	n/a
12	chr7:140802949-140802999	HEK293	kidney:	embryo
13	chr7:140825201-140825251	HEEpiC	esophagus:	n/a
14	chr7:140802949-140802999	AG04449	skin:	fetal
15	chr7:140825201-140825251	MCF-7	breast:	n/a
16	chr7:140819331-140819381	GM06990	blood:	n/a
17	chr7:140825201-140825251	U87	brain:	n/a
18	chr7:140819331-140819381	CMK	blood:	n/a
19	chr7:140802949-140802999	HNPCEpiC	eye:	n/a
20	chr7:140819331-140819381	BE2_C	brain:	n/a
21	chr7:140825201-140825251	AoSMC	blood vessel:	n/a
22	chr7:140802949-140802999	HRE	kidney:	n/a
23	chr7:140825201-140825251	HCT-116	colon:	n/a
24	chr7:140825201-140825251	HNPCEpiC	eye:	n/a
25	chr7:140825201-140825251	NHDF-neo	bronchial:	n/a
26	chr7:140825201-140825251	ovcar-3	ovarian:	n/a
27	chr7:140802949-140802999	HPAEpiC	pulmonary alveolar:	n/a
28	chr7:140802949-140802999	NHBE	bronchial:	n/a
29	chr7:140802949-140802999	MCF10A-Er-Src	breast:	n/a
30	chr7:140825201-140825251	HCF	heart:	n/a
31	chr7:140819331-140819381	ECC-1	luminal epithelium:	n/a
32	chr7:140819331-140819381	AG04450	lung:	fetal
33	chr7:140802949-140802999	HRCEpiC	kidney:	n/a
34	chr7:140819331-140819381	HEEpiC	esophagus:	n/a
35	chr7:140802949-140802999	Hela-S3	cervix:	n/a
36	chr7:140819331-140819381	HUVEC	blood vessel:	n/a
37	chr7:140802949-140802999	SK-N-SH_RA	brain:	n/a
38	chr7:140819331-140819381	HAEpiC	amniotic membrane:	n/a
39	chr7:140802949-140802999	T-47D	breast:	n/a
40	chr7:140825201-140825251	HEK293	kidney:	embryo
41	chr7:140802949-140802999	Jurkat	blood:	n/a
42	chr7:140825201-140825251	HRCEpiC	kidney:	n/a
43	chr7:140825201-140825251	K562	blood:	n/a
44	chr7:140819331-140819381	LNCaP	prostate:	n/a
45	chr7:140825201-140825251	ProgFib	skin:	n/a
46	chr7:140819331-140819381	HPAEpiC	pulmonary alveolar:	n/a
47	chr7:140819331-140819381	PFSK-1	brain:	n/a
48	chr7:140819331-140819381	HEK293	kidney:	embryo
49	chr7:140802949-140802999	ProgFib	skin:	n/a
50	chr7:140802949-140802999	SKMC	muscle:	n/a

(count:55 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:140825224..140827194-chr7:140830158..140832101,2	MCF-7	breast:
2	chr7:140772309..140775530-chr7:140801888..140805201,4	MCF-7	breast:
3	chr7:140844985..140846515-chr7:140849841..140852690,2	K562	blood:
4	chr7:140858251..140860260-chr7:140862724..140864626,2	K562	blood:
5	chr7:140843078..140845693-chr7:140845885..140848825,2	K562	blood:
6	chr7:140824143..140826082-chr7:140845045..140846801,2	MCF-7	breast:
7	chr7:140773267..140775276-chr7:140843662..140846172,2	MCF-7	breast:
8	chr7:140866485..140868761-chr7:140869003..140871029,2	K562	blood:
9	chr7:140791037..140792664-chr7:140793260..140795969,2	K562	blood:
10	chr7:140809551..140812194-chr7:140815553..140817861,2	K562	blood:
11	chr7:140848570..140850789-chr7:140857178..140859361,2	K562	blood:
12	chr7:140851803..140853692-chr7:140854815..140856844,2	K562	blood:
13	chr7:140825127..140826648-chr7:140830535..140832414,2	K562	blood:
14	chr7:140791037..140792664-chr7:140793260..140795969,2	K562	blood:
15	chr7:140851803..140853692-chr7:140854815..140856844,2	K562	blood:
16	chr7:140858251..140860260-chr7:140862724..140864626,2	K562	blood:
17	chr7:140847873..140850789-chr7:140857812..140859361,2	K562	blood:
18	chr7:140773245..140775613-chr7:140886668..140888231,2	MCF-7	breast:
19	chr7:140772523..140774077-chr7:140786831..140788416,2	MCF-7	breast:
20	chr7:140772460..140775375-chr7:140783158..140785995,3	MCF-7	breast:
21	chr7:140809551..140812194-chr7:140815553..140817861,2	K562	blood:
22	chr7:140844555..140846332-chr7:140846893..140848687,2	MCF-7	breast:
23	chr7:140824143..140826082-chr7:140845045..140846801,2	MCF-7	breast:
24	chr7:140774318..140775981-chr7:140800025..140801816,2	MCF-7	breast:
25	chr7:140847873..140850789-chr7:140857812..140859361,2	K562	blood:
26	chr7:140891464..140893632-chr7:140896761..140899260,2	MCF-7	breast:
27	chr7:140815801..140817382-chr7:140818950..140821783,2	MCF-7	breast:
28	chr7:140815943..140817900-chr7:140945152..140947354,2	K562	blood:
29	chr7:140858519..140860294-chr7:140860342..140863117,3	MCF-7	breast:
30	chr7:140887483..140889545-chr7:140890710..140893364,2	MCF-7	breast:
31	chr7:140853460..140856040-chr7:140856141..140858035,2	MCF-7	breast:
32	chr7:140772390..140774369-chr7:140856570..140858816,2	MCF-7	breast:
33	chr7:140843078..140845693-chr7:140845885..140848825,2	K562	blood:
34	chr7:140774135..140775705-chr7:140796756..140798922,2	MCF-7	breast:
35	chr7:140790828..140792569-chr7:140797247..140798946,2	MCF-7	breast:
36	chr7:140713056..140715506-chr7:140870888..140872940,2	MCF-7	breast:
37	chr7:140826114..140828540-chr7:140839520..140841389,2	K562	blood:
38	chr7:140858519..140860294-chr7:140860342..140863117,3	MCF-7	breast:
39	chr7:140825127..140826648-chr7:140830535..140832414,2	K562	blood:
40	chr7:140825224..140827194-chr7:140830158..140832101,2	MCF-7	breast:
41	chr7:140853460..140856040-chr7:140856141..140858035,2	MCF-7	breast:
42	chr7:140889574..140892033-chr7:140893682..140895880,2	K562	blood:
43	chr7:140887483..140889545-chr7:140890710..140893364,2	MCF-7	breast:
44	chr7:140790828..140792569-chr7:140797247..140798946,2	MCF-7	breast:
45	chr7:140848570..140850789-chr7:140857178..140859361,2	K562	blood:
46	chr7:140815801..140817382-chr7:140818950..140821783,2	MCF-7	breast:
47	chr7:140866485..140868761-chr7:140869003..140871029,2	K562	blood:
48	chr11:65194366..65196731-chr7:140846468..140848543,2	MCF-7	breast:
49	chr7:140713041..140715567-chr7:140788354..140789900,2	K562	blood:
50	chr7:140891719..140893428-chr7:140897084..140898842,2	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MRPS33-3	chr7:140860819-140860998	l_3490_chr7:140858932-140875574_testes
2	lnc-MRPS33-3	chr7:140875313-140875574	l_3490_chr7:140858932-140875574_testes
3	lnc-MRPS33-3	chr7:140861853-140862312	l_3490_chr7:140858932-140875574_testes
4	lnc-MRPS33-3	chr7:140859243-140859506	l_3490_chr7:140858932-140875574_testes
5	lnc-RP11-744I24.1.1-1	chr7:140860427-140860780	NONHSAT123707
6	lnc-MRPS33-3	chr7:140858933-140859141	l_3490_chr7:140858932-140875574_testes

No data

Variant related genes	Relation type
ENSG00000261778	TF binding region
ENSG00000261778	CpG island
ENSG00000090263	chromatin interactions
ENSG00000261115	chromatin interactions

Extended variants
information (count: 3143 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:3143 , 50 per page) page: 1 2 3 4 5 6 7 ... 63

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575885053	chr7:140783106-140783107	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs559230309	chr7:140783140-140783141	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs533556703	chr7:140783209-140783210	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs552015177	chr7:140783218-140783219	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs369206180	chr7:140783238-140783239	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs147059613	chr7:140783244-140783245	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs537764796	chr7:140783260-140783261	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs372530442	chr7:140783261-140783262	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs549365032	chr7:140783265-140783266	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs190727308	chr7:140783266-140783267	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs112192450	chr7:140783279-140783280	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs534739806	chr7:140783280-140783281	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs78902766	chr7:140783282-140783283	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs183251608	chr7:140783287-140783288	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs199563559	chr7:140783289-140783290	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs12537081	chr7:140783290-140783291	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs113812413	chr7:140783297-140783298	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs77225178	chr7:140783300-140783301	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs370172674	chr7:140783303-140783304	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs577315052	chr7:140783304-140783305	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs546271016	chr7:140783311-140783312	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs201333839	chr7:140783318-140783319	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs79625845	chr7:140783320-140783321	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs372591841	chr7:140783323-140783324	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs74533900	chr7:140783326-140783327	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs56305234	chr7:140783330-140783331	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs62486610	chr7:140783368-140783369	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs7806026	chr7:140783382-140783383	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs544403545	chr7:140783425-140783426	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs557531086	chr7:140783428-140783429	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs575902406	chr7:140783474-140783475	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs150886114	chr7:140783504-140783505	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs142103553	chr7:140783507-140783508	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs543327863	chr7:140783508-140783509	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs555408944	chr7:140783559-140783560	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs573578698	chr7:140783566-140783567	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs540711954	chr7:140783585-140783586	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs559359637	chr7:140783589-140783590	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs182972859	chr7:140783639-140783640	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs369398908	chr7:140783669-140783670	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs79853421	chr7:140783682-140783683	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs57202199	chr7:140783684-140783685	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs530370224	chr7:140783685-140783686	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs398006623	chr7:140783698-140783699	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs80107236	chr7:140783699-140783700	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs533064919	chr7:140783712-140783713	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs532534299	chr7:140783776-140783777	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs545592870	chr7:140783883-140783884	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs187978416	chr7:140783914-140783915	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs146698902	chr7:140783968-140783969	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Myelodysplastic syndrome	17634407	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
Medulloblastoma	16968546	CNVD
Pilocytic astrocytoma	18408760	CNVD
Idiopathic chronic pancreatitis	19584086	CNVD
Low-grade astrocytoma	19016743	CNVD
Pediatric low-grade astrocytoma	19016743	CNVD
Acute lymphoblastic leukemia	17315016	CNVD
Gastric cancer	16891809	CNVD
Cancer	17440070	CNVD
Astrocytoma	18398503	CNVD
Melanoma	19671679	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Breast cancer	17133270	CNVD
Schizophrenia	17646849	CNVD
Glioblastoma multiforme	21525872	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:513 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140774800-140783200	Weak transcription	Pancreas	Pancrea
2	chr7:140776800-140783200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr7:140776800-140783200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr7:140776800-140783200	Weak transcription	Brain Angular Gyrus	brain
5	chr7:140776800-140783200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr7:140776800-140783200	Weak transcription	Fetal Brain Male	brain
7	chr7:140777000-140785000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr7:140778000-140793200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr7:140778800-140783200	Weak transcription	Psoas Muscle	Psoas
10	chr7:140778800-140794400	Weak transcription	Fetal Brain Female	brain
11	chr7:140780200-140783200	Weak transcription	Gastric	stomach
12	chr7:140782200-140783200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr7:140782400-140783200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr7:140782600-140783200	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr7:140782600-140786400	Weak transcription	Brain Germinal Matrix	brain
16	chr7:140782800-140783200	Enhancers	H9 Cell Line	embryonic stem cell
17	chr7:140782800-140783200	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr7:140783000-140783200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
19	chr7:140783200-140783400	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
20	chr7:140783200-140783400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
21	chr7:140783200-140783400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr7:140783200-140783400	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:140783200-140783400	Flanking Bivalent TSS/Enh	H9 Cell Line	embryonic stem cell
24	chr7:140783200-140783400	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:140783200-140783400	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr7:140783200-140783400	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr7:140783200-140783400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
28	chr7:140783200-140783400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
29	chr7:140783200-140783400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
30	chr7:140783200-140783400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
31	chr7:140783200-140783400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
32	chr7:140783200-140783400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr7:140783200-140783400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr7:140783200-140783400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
35	chr7:140783200-140783400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
36	chr7:140783200-140783400	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 2	blood
37	chr7:140783200-140783400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
38	chr7:140783200-140783400	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
39	chr7:140783200-140783400	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
40	chr7:140783200-140783400	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
41	chr7:140783200-140783400	Bivalent/Poised TSS	Primary T helper cells fromperipheralblood	blood
42	chr7:140783200-140783400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
43	chr7:140783200-140783400	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
44	chr7:140783200-140783400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr7:140783200-140783400	Bivalent/Poised TSS	Liver	Liver
46	chr7:140783200-140783400	ZNF genes & repeats	Brain Angular Gyrus	brain
47	chr7:140783200-140783400	ZNF genes & repeats	Brain Cingulate Gyrus	brain
48	chr7:140783200-140783400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
49	chr7:140783200-140783400	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
50	chr7:140783200-140783400	ZNF genes & repeats	Colon Smooth Muscle	Colon

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