Variant report

Variant	nsv970453
Chromosome Location	chr7:25161936-25164107
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:25017640..25019982-chr7:25163074..25165145,3	K562	blood:
2	chr7:25163229..25164829-chr7:25172511..25174801,2	MCF-7	breast:
3	chr7:25138333..25140048-chr7:25162393..25164848,2	MCF-7	breast:
4	chr7:25063807..25065550-chr7:25161295..25162943,2	K562	blood:
5	chr11:93474235..93474782-chr7:25164031..25164939,2	Hela-S3	cervix:
6	chr7:24860077..24861598-chr7:25162412..25164034,2	K562	blood:
7	chr7:25163296..25164829-chr7:25893486..25896365,2	MCF-7	breast:
8	chr7:25163185..25164813-chr7:25180579..25182345,2	MCF-7	breast:
9	chr7:24826566..24828422-chr7:25163064..25164829,2	K562	blood:
10	chr7:25162226..25166939-chr7:25217425..25223469,13	K562	blood:
11	chr7:24612571..24615400-chr7:25163274..25166495,4	MCF-7	breast:
12	chr6:13574818..13575379-chr7:25164041..25164955,2	Hela-S3	cervix:
13	chr7:24849744..24852129-chr7:25163640..25165814,2	K562	blood:
14	chr7:25162308..25164460-chr7:25245338..25246986,2	K562	blood:
15	chr7:25163425..25166435-chr7:25223667..25226551,3	K562	blood:
16	chr7:25163234..25166939-chr7:25217425..25221477,8	K562	blood:
17	chr18:3262951..3265530-chr7:25162407..25164968,2	MCF-7	breast:
18	chr1:150533283..150534027-chr7:25164084..25164931,2	Hela-S3	cervix:
19	chr3:119814134..119814820-chr7:25163981..25164914,2	NB4	blood:

No data

Variant related genes	Relation type
ENSG00000070882	chromatin interactions
ENSG00000118680	chromatin interactions
ENSG00000234406	chromatin interactions
ENSG00000203804	chromatin interactions
ENSG00000182919	chromatin interactions
ENSG00000166012	chromatin interactions
ENSG00000124523	chromatin interactions
ENSG00000242622	chromatin interactions
ENSG00000153790	chromatin interactions
ENSG00000105926	chromatin interactions

Extended variants
information (count: 89 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146578464	chr7:25161970-25161971	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
2	rs117753806	chr7:25161976-25161977	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
3	rs550435948	chr7:25162010-25162011	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs574649600	chr7:25162023-25162024	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs75291633	chr7:25162026-25162027	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs141279662	chr7:25162038-25162039	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs553177713	chr7:25162041-25162042	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs36061386	chr7:25162073-25162074	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs576345659	chr7:25162166-25162167	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs542092170	chr7:25162201-25162202	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs535074932	chr7:25162203-25162204	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs377461599	chr7:25162211-25162212	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs370941753	chr7:25162240-25162241	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs189863080	chr7:25162305-25162306	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs577601640	chr7:25162340-25162341	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs527848307	chr7:25162364-25162365	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs540807000	chr7:25162368-25162369	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs543873365	chr7:25162371-25162372	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs181671136	chr7:25162412-25162413	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs577660344	chr7:25162452-25162453	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs546183552	chr7:25162480-25162481	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs559859343	chr7:25162488-25162489	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs528696386	chr7:25162659-25162660	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs11548775	chr7:25162723-25162724	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs532984462	chr7:25162783-25162784	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs556498765	chr7:25162823-25162824	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs561477883	chr7:25162839-25162840	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs549785908	chr7:25162855-25162856	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs11548774	chr7:25162898-25162899	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs530407636	chr7:25162907-25162908	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs28376346	chr7:25162919-25162920	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs569634735	chr7:25162921-25162922	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs11548773	chr7:25162934-25162935	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs570409351	chr7:25162973-25162974	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs533205759	chr7:25163072-25163073	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs55694963	chr7:25163085-25163086	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs56249456	chr7:25163104-25163105	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs529225325	chr7:25163105-25163106	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs184837079	chr7:25163113-25163114	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs58757790	chr7:25163135-25163136	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs566625698	chr7:25163178-25163179	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs549213087	chr7:25163179-25163180	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs535311727	chr7:25163188-25163189	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs371038525	chr7:25163255-25163256	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs568608228	chr7:25163305-25163306	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs373573935	chr7:25163323-25163324	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs367666281	chr7:25163331-25163332	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs3211448	chr7:25163353-25163354	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs146494129	chr7:25163362-25163363	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs11548785	chr7:25163375-25163376	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
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
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Lung cancer	16773561	CNVD
Schizophrenia	19546859	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Lung adenocarcinoma	17086460	CNVD
Colorectal cancer	19455253	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:459 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:25152200-25163400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr7:25153200-25163600	Weak transcription	Stomach Mucosa	stomach
3	chr7:25155600-25163400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr7:25156600-25163400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr7:25156600-25163400	Weak transcription	Right Atrium	heart
6	chr7:25156600-25164000	Weak transcription	Esophagus	oesophagus
7	chr7:25156600-25164000	Weak transcription	Spleen	Spleen
8	chr7:25157200-25162000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:25157200-25162000	Strong transcription	A549	lung
10	chr7:25157200-25162200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:25157200-25163800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr7:25157400-25162000	Strong transcription	HMEC	breast
13	chr7:25157600-25162200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr7:25157600-25162600	Strong transcription	Fetal Thymus	thymus
15	chr7:25157800-25163400	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr7:25157800-25163400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr7:25157800-25163400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr7:25157800-25163600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr7:25157800-25163800	Weak transcription	Brain Angular Gyrus	brain
20	chr7:25157800-25164000	Weak transcription	Pancreas	Pancrea
21	chr7:25158200-25163400	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr7:25158400-25162000	Strong transcription	NH-A	brain
23	chr7:25158400-25163000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr7:25158400-25163400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:25158400-25163400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr7:25158600-25162000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr7:25158600-25162000	Strong transcription	NHEK	skin
28	chr7:25158600-25162200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr7:25158600-25162400	Strong transcription	Primary hematopoietic stem cells	blood
30	chr7:25158600-25162400	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr7:25158600-25162400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr7:25158600-25162400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr7:25158600-25162400	Strong transcription	Fetal Intestine Large	intestine
34	chr7:25158600-25162400	Strong transcription	Fetal Muscle Trunk	muscle
35	chr7:25158600-25162400	Strong transcription	Fetal Muscle Leg	muscle
36	chr7:25158600-25162400	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr7:25158600-25162600	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr7:25158600-25162600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr7:25158600-25162600	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr7:25158600-25162600	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr7:25158600-25162600	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr7:25158600-25162800	Strong transcription	Liver	Liver
43	chr7:25158600-25163400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr7:25158800-25162000	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr7:25158800-25162200	Strong transcription	Colonic Mucosa	Colon
46	chr7:25158800-25162400	Strong transcription	H9 Cell Line	embryonic stem cell
47	chr7:25158800-25162400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr7:25158800-25162400	Strong transcription	Primary T cells from cord blood	blood
49	chr7:25158800-25162400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr7:25158800-25162400	Strong transcription	Sigmoid Colon	Sigmoid Colon

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