Variant report

Variant	nsv608257
Chromosome Location	chr7:117229167-117241394
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:117232488-117232514	MCF-7	breast:	n/a	n/a
2	CTCF	chr7:117232453-117232475	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr7:117232469-117232518	MCF-7	breast:	n/a	n/a
4	CTCF	chr7:117236439-117236509	Fibrobl	skin:	n/a	n/a
5	CTCF	chr7:117232459-117232519	MCF-7	breast:	n/a	n/a
6	CTCF	chr7:117232437-117232563	A549	lung:	n/a	n/a
7	CTCF	chr7:117236460-117236610	GM12866	blood:	n/a	n/a
8	E2F4	chr7:117241052-117241317	MCF10A-Er-Src	breast:	n/a	n/a
9	EP300	chr7:117241066-117241292	Hela-S3	cervix:	n/a	chr7:117241188-117241202 chr7:117241189-117241198
10	FOS	chr7:117240783-117241437	HUVEC	blood vessel:	n/a	chr7:117241232-117241242 chr7:117241345-117241357 chr7:117241232-117241242
11	GATA2	chr7:117241055-117241372	HUVEC	blood vessel:	n/a	chr7:117241251-117241258 chr7:117241249-117241262
12	GATA3	chr7:117227779-117229187	A549	lung:	n/a	chr7:117229048-117229055 chr7:117229048-117229055 chr7:117229000-117229017 chr7:117229099-117229108 chr7:117229043-117229059 chr7:117229048-117229055 chr7:117228998-117229008 chr7:117229095-117229111
13	GATA3	chr7:117230850-117231003	SH-SY5Y	brain:	n/a	n/a
14	GTF2F1	chr7:117229450-117229462	Hela-S3	cervix:	n/a	n/a
15	HEY1	chr7:117237177-117237376	K562	blood:	n/a	n/a
16	HEY1	chr7:117237106-117237347	K562	blood:	n/a	n/a
17	JUN	chr7:117240930-117241359	HUVEC	blood vessel:	n/a	chr7:117241232-117241242 chr7:117241345-117241357 chr7:117241232-117241242
18	JUN	chr7:117241020-117241119	K562	blood:	n/a	n/a
19	JUND	chr7:117234744-117234901	HepG2	liver:	n/a	chr7:117234826-117234835 chr7:117234773-117234785
20	MYC	chr7:117232455-117232538	MCF-7	breast:	n/a	n/a
21	MYC	chr7:117232447-117232550	MCF-7	breast:	n/a	n/a
22	MYC	chr7:117232443-117232571	MCF-7	breast:	n/a	n/a
23	MYC	chr7:117232555-117232558	MCF-7	breast:	n/a	n/a
24	MYC	chr7:117232408-117232533	MCF-7	breast:	n/a	n/a
25	NFYB	chr7:117237027-117237193	Hela-S3	cervix:	n/a	chr7:117237065-117237080
26	NFYB	chr7:117236739-117237247	K562	blood:	n/a	chr7:117237065-117237080
27	NFYB	chr7:117236726-117237237	GM12878	blood:	n/a	chr7:117237065-117237080
28	POLR2A	chr7:117232433-117232569	MCF-7	breast:	n/a	n/a
29	POLR2A	chr7:117233410-117233533	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr7:117237195-117237346	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr7:117231462-117231643	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr7:117229846-117230092	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr7:117232442-117232598	MCF-7	breast:	n/a	n/a
34	POLR2A	chr7:117232448-117232588	A549	lung:	n/a	n/a
35	POLR2A	chr7:117233794-117233816	A549	lung:	n/a	n/a
36	RFX5	chr7:117240983-117241020	K562	blood:	n/a	n/a
37	RFX5	chr7:117228087-117229286	Hela-S3	cervix:	n/a	n/a
38	RFX5	chr7:117234715-117234870	K562	blood:	n/a	n/a
39	STAT3	chr7:117230638-117230713	MCF10A-Er-Src	breast:	n/a	n/a
40	TCF7L2	chr7:117241158-117241338	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	7:116754962-116765597..7:117228556-117233275	Hela-S3	cervix:
2	7:115847372-115857098..7:117228556-117233275	H1-hESC	embryonic stem cell:	embryo

Variant related genes	Relation type
ENSG00000234001	TF binding region
ENSG00000004866	chromatin interactions
ENSG00000135269	chromatin interactions

Extended variants
information (count: 577 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:577 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs213963	chr7:117229167-117229168	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs116912584	chr7:117229245-117229246	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs213964	chr7:117229336-117229337	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs576077828	chr7:117229366-117229367	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs537122032	chr7:117229367-117229368	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs556828603	chr7:117229403-117229404	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs370051769	chr7:117229407-117229408	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs138368177	chr7:117229415-117229416	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs542592155	chr7:117229433-117229434	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs553972575	chr7:117229483-117229484	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs560627132	chr7:117229493-117229494	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs397508266	chr7:117229521-117229522	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs397508261	chr7:117229530-117229531	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs572658447	chr7:117229536-117229537	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs213965	chr7:117229537-117229538	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs187496561	chr7:117229560-117229561	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs369618908	chr7:117229576-117229577	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs28594614	chr7:117229633-117229634	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs539555661	chr7:117229734-117229735	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs556105235	chr7:117229753-117229754	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs531720676	chr7:117229773-117229774	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs213966	chr7:117229819-117229820	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs547078948	chr7:117229827-117229828	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs213967	chr7:117229837-117229838	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs572053771	chr7:117229872-117229873	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs76187530	chr7:117229959-117229960	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs539688259	chr7:117229960-117229961	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs213968	chr7:117229993-117229994	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs147494130	chr7:117229994-117229995	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs537183576	chr7:117230008-117230009	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs541565746	chr7:117230015-117230016	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs143923109	chr7:117230032-117230033	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs140489600	chr7:117230046-117230047	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs368437359	chr7:117230053-117230054	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs567324175	chr7:117230075-117230076	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs34412203	chr7:117230178-117230179	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs41281087	chr7:117230210-117230211	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs543485500	chr7:117230235-117230236	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs532209396	chr7:117230248-117230249	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs572672280	chr7:117230274-117230275	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs17140229	chr7:117230283-117230284	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs148484021	chr7:117230294-117230295	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs112778223	chr7:117230301-117230302	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs562449422	chr7:117230305-117230306	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs397508265	chr7:117230381-117230382	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs121908794	chr7:117230406-117230407	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs397508267	chr7:117230407-117230408	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs397508268	chr7:117230408-117230409	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs121909047	chr7:117230409-117230410	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs1800097	chr7:117230411-117230412	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Autism	22495311	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
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
Sudden cardiac death	19188705	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	21346763	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:117208600-117232400	Weak transcription	Pancreas	Pancrea
2	chr7:117216800-117235600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr7:117226000-117230600	Enhancers	Hela-S3	cervix
4	chr7:117226200-117231000	Enhancers	Fetal Intestine Small	intestine
5	chr7:117227000-117232000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr7:117227800-117229400	Enhancers	Liver	Liver
7	chr7:117228000-117229400	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr7:117228000-117231400	Enhancers	Duodenum Mucosa	Duodenum
9	chr7:117228400-117229400	Enhancers	HepG2	liver
10	chr7:117228400-117232000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr7:117228600-117229200	Flanking Active TSS	A549	lung
12	chr7:117228600-117229400	Enhancers	Stomach Mucosa	stomach
13	chr7:117228800-117229200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:117228800-117229400	Flanking Active TSS	Dnd41	blood
15	chr7:117229000-117229400	Weak transcription	Fetal Intestine Large	intestine
16	chr7:117229000-117235600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr7:117229200-117229400	Enhancers	A549	lung
18	chr7:117229400-117229800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr7:117229400-117231400	Enhancers	Fetal Intestine Large	intestine
20	chr7:117229400-117232200	Enhancers	Dnd41	blood
21	chr7:117229400-117234000	Weak transcription	A549	lung
22	chr7:117229800-117230800	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr7:117230800-117232200	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr7:117231000-117235600	Weak transcription	Fetal Intestine Small	intestine
25	chr7:117231000-117236000	Weak transcription	Colonic Mucosa	Colon
26	chr7:117231400-117232400	Weak transcription	Duodenum Mucosa	Duodenum
27	chr7:117231400-117235600	Weak transcription	Fetal Intestine Large	intestine
28	chr7:117232000-117233000	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr7:117232200-117232600	Flanking Active TSS	Dnd41	blood
30	chr7:117232200-117232800	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr7:117232400-117232600	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr7:117232400-117232600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr7:117232400-117232600	ZNF genes & repeats	Pancreas	Pancrea
34	chr7:117232400-117232600	Enhancers	Placenta Amnion	Placenta Amnion
35	chr7:117232400-117233000	Strong transcription	Duodenum Mucosa	Duodenum
36	chr7:117232600-117235200	Active TSS	Dnd41	blood
37	chr7:117232600-117236000	Weak transcription	Pancreas	Pancrea
38	chr7:117232800-117234600	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr7:117233000-117235000	Weak transcription	Duodenum Mucosa	Duodenum
40	chr7:117233000-117245000	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr7:117234000-117234600	Enhancers	A549	lung
42	chr7:117234600-117236200	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr7:117234600-117240400	Weak transcription	A549	lung
44	chr7:117235000-117237600	Strong transcription	Duodenum Mucosa	Duodenum
45	chr7:117235200-117237400	Weak transcription	Dnd41	blood
46	chr7:117235600-117235800	Strong transcription	Fetal Intestine Large	intestine
47	chr7:117235600-117236200	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
48	chr7:117235600-117238200	Strong transcription	Fetal Intestine Small	intestine
49	chr7:117235800-117236800	ZNF genes & repeats	Fetal Intestine Large	intestine
50	chr7:117236000-117236200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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