Variant report

Variant	nsv981423
Chromosome Location	chr7:4173763-4177820
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:4168747..4171679-chr7:4175330..4177185,2	MCF-7	breast:
2	chr7:4177145..4179005-chr7:4179359..4181181,2	K562	blood:
3	chr7:4176002..4178890-chr7:4179333..4180970,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000146555	chromatin interactions

Extended variants
information (count: 261 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:261 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531123614	chr7:4173764-4173765	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs369594875	chr7:4173768-4173769	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs544512781	chr7:4173828-4173829	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs367566844	chr7:4173861-4173862	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs375075419	chr7:4173875-4173876	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564580930	chr7:4173885-4173886	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs538960488	chr7:4173888-4173889	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184152801	chr7:4173899-4173900	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376163098	chr7:4173916-4173917	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533268077	chr7:4173918-4173919	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188561051	chr7:4173919-4173920	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs640406	chr7:4174001-4174002	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs529295405	chr7:4174034-4174035	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs192561958	chr7:4174039-4174040	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs569093714	chr7:4174041-4174042	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs538025513	chr7:4174065-4174066	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs557692409	chr7:4174093-4174094	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs556211484	chr7:4174096-4174097	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs575749751	chr7:4174098-4174099	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs148735468	chr7:4174099-4174100	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs142276049	chr7:4174144-4174145	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs542298557	chr7:4174176-4174177	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs17301670	chr7:4174177-4174178	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs575875405	chr7:4174186-4174187	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs184415646	chr7:4174212-4174213	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs373272797	chr7:4174216-4174217	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs190531986	chr7:4174218-4174219	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs533207715	chr7:4174223-4174224	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs146834648	chr7:4174234-4174235	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs540326708	chr7:4174251-4174252	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs10265374	chr7:4174315-4174316	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs369422429	chr7:4174321-4174322	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs549140773	chr7:4174327-4174328	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs569107235	chr7:4174328-4174329	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs182239483	chr7:4174331-4174332	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs551511521	chr7:4174333-4174334	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs149912079	chr7:4174342-4174343	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs4723416	chr7:4174389-4174390	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs146775247	chr7:4174411-4174412	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs553894827	chr7:4174418-4174419	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs638530	chr7:4174426-4174427	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs116079074	chr7:4174427-4174428	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs555906868	chr7:4174443-4174444	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs575855483	chr7:4174453-4174454	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs10276958	chr7:4174480-4174481	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs62438186	chr7:4174481-4174482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs558077047	chr7:4174483-4174484	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs577807599	chr7:4174487-4174488	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs540462642	chr7:4174488-4174489	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs10236329	chr7:4174501-4174502	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Chordoma	21602918	CNVD
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
Spondylocostal dysostosis	21085971	CNVD
Mental retardation	17901693	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	22286061	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Colorectal cancer	21645411	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4132400-4180200	Weak transcription	Colon Smooth Muscle	Colon
2	chr7:4154600-4191600	Weak transcription	Gastric	stomach
3	chr7:4156600-4174000	Weak transcription	Stomach Smooth Muscle	stomach
4	chr7:4164000-4184000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr7:4165600-4174400	Weak transcription	Fetal Brain Female	brain
6	chr7:4165600-4185800	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr7:4167000-4176600	Strong transcription	Aorta	Aorta
8	chr7:4167000-4177200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:4167600-4181400	Weak transcription	Esophagus	oesophagus
10	chr7:4169200-4228200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr7:4169800-4174200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr7:4170200-4184200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr7:4170600-4173800	Weak transcription	Brain Germinal Matrix	brain
14	chr7:4170800-4179000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr7:4171000-4173800	Weak transcription	Fetal Stomach	stomach
16	chr7:4171000-4174400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr7:4171200-4174400	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr7:4171200-4175200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr7:4171200-4175400	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr7:4171200-4175600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:4171400-4174000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:4171400-4175200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr7:4171400-4175400	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr7:4172200-4173800	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr7:4172200-4175000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:4172600-4176200	Strong transcription	Spleen	Spleen
27	chr7:4172800-4173800	Enhancers	HepG2	liver
28	chr7:4172800-4174000	Enhancers	Pancreas	Pancrea
29	chr7:4172800-4183800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr7:4173000-4173800	Weak transcription	Fetal Kidney	kidney
31	chr7:4173000-4175200	Enhancers	Fetal Lung	lung
32	chr7:4173200-4173800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr7:4173200-4173800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr7:4173200-4173800	Flanking Active TSS	Fetal Intestine Small	intestine
35	chr7:4173200-4174400	Flanking Active TSS	Fetal Intestine Large	intestine
36	chr7:4173200-4175200	Enhancers	Fetal Muscle Leg	muscle
37	chr7:4173200-4176600	Enhancers	H1 Cell Line	embryonic stem cell
38	chr7:4173200-4176600	Enhancers	Fetal Brain Male	brain
39	chr7:4173400-4174200	Active TSS	Duodenum Mucosa	Duodenum
40	chr7:4173400-4174400	Active TSS	Liver	Liver
41	chr7:4173600-4175200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr7:4173600-4177200	Enhancers	Ovary	ovary
43	chr7:4173800-4174000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr7:4173800-4174000	Active TSS	Fetal Intestine Small	intestine
45	chr7:4173800-4174200	Flanking Active TSS	HepG2	liver
46	chr7:4173800-4174600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
47	chr7:4173800-4175000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr7:4173800-4175000	Enhancers	Brain Germinal Matrix	brain
49	chr7:4173800-4175200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr7:4173800-4175400	Genic enhancers	Fetal Stomach	stomach

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