Variant report

Variant	nsv237246
Chromosome Location	chr3:121728213-121730524
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	EBF1	chr3:121729529-121729692	GM12878	blood:	n/a	n/a
2	EBF1	chr3:121730397-121730742	GM12878	blood:	n/a	chr3:121730551-121730562
3	NFYB	chr3:121729269-121729458	GM12878	blood:	n/a	n/a
4	POLR2A	chr3:121730412-121730909	GM12878	blood:	n/a	n/a
5	POLR2A	chr3:121730008-121731065	GM12878	blood:	n/a	n/a
6	POLR2A	chr3:121730426-121730649	GM12878	blood:	n/a	n/a
7	POLR2A	chr3:121730206-121730683	GM12878	blood:	n/a	n/a
8	RUNX3	chr3:121729311-121729915	GM12878	blood:	n/a	n/a
9	SMC3	chr3:121729461-121729630	GM12878	blood:	n/a	n/a
10	STAT3	chr3:121728838-121728905	GM12878	blood:	n/a	n/a
11	TBL1XR1	chr3:121728845-121728950	GM12878	blood:	n/a	n/a
12	TBP	chr3:121728881-121728984	GM12878	blood:	n/a	n/a
13	TCF7L2	chr3:121729528-121729718	HepG2	liver:	n/a	n/a
14	WRNIP1	chr3:121728710-121728951	GM12878	blood:	n/a	n/a
15	WRNIP1	chr3:121730225-121730911	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:121729150..121731680-chr3:121732559..121734650,2	MCF-7	breast:
2	chr3:121722572..121724413-chr3:121727539..121730017,2	MCF-7	breast:
3	chr3:121725712..121729014-chr3:121739125..121742417,3	MCF-7	breast:

Variant related genes	Relation type
ILDR1	TF binding region
ENSG00000145103	chromatin interactions

Extended variants
information (count: 100 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113202306	chr3:121728214-121728215	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs551181897	chr3:121728262-121728263	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs201777200	chr3:121728295-121728296	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs5852288	chr3:121728296-121728297	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs115975949	chr3:121728354-121728355	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs186006181	chr3:121728427-121728428	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs77259354	chr3:121728441-121728442	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs151126134	chr3:121728443-121728444	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs566481984	chr3:121728444-121728445	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs190975532	chr3:121728449-121728450	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs531467265	chr3:121728503-121728504	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs552220979	chr3:121728506-121728507	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs551183101	chr3:121728514-121728515	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs140672027	chr3:121728528-121728529	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs184026002	chr3:121728573-121728574	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs186308689	chr3:121728577-121728578	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs536497612	chr3:121728581-121728582	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs112814395	chr3:121728661-121728662	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs146682181	chr3:121728689-121728690	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs140292605	chr3:121728725-121728726	Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs565709861	chr3:121728780-121728781	Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs59793446	chr3:121728833-121728834	Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs2001212	chr3:121728846-121728847	Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs145386701	chr3:121728853-121728854	Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs57354038	chr3:121728855-121728856	Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs540882168	chr3:121728903-121728904	Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs536910369	chr3:121728923-121728924	Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs149092671	chr3:121728937-121728938	Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs35996139	chr3:121728967-121728968	Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs386665231	chr3:121728968-121728969	Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs202070999	chr3:121728969-121728970	Enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs371869311	chr3:121728986-121728987	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs534036671	chr3:121728989-121728990	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs547484716	chr3:121729037-121729038	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs376889923	chr3:121729085-121729086	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs143176863	chr3:121729086-121729087	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs111964809	chr3:121729107-121729108	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs9859154	chr3:121729180-121729181	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs548394214	chr3:121729190-121729191	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs148276778	chr3:121729192-121729193	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs200277515	chr3:121729254-121729255	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs190317664	chr3:121729259-121729260	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs13093171	chr3:121729262-121729263	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs553275383	chr3:121729276-121729277	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs566799561	chr3:121729292-121729293	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs113936889	chr3:121729305-121729306	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs182959168	chr3:121729321-121729322	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs566227960	chr3:121729331-121729332	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs558626143	chr3:121729336-121729337	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs186887080	chr3:121729369-121729370	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Developmental delay	22180640	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
lymphocytic leukemia	21291569	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Autism	22241247	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:121705200-121729400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr3:121713000-121732200	Weak transcription	Esophagus	oesophagus
3	chr3:121720800-121732200	Weak transcription	Duodenum Mucosa	Duodenum
4	chr3:121720800-121732200	Weak transcription	Pancreas	Pancrea
5	chr3:121722000-121732400	Weak transcription	Colonic Mucosa	Colon
6	chr3:121722200-121732200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr3:121723200-121731800	Weak transcription	NHEK	skin
8	chr3:121724000-121728600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr3:121724000-121731800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr3:121724200-121740600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr3:121724400-121728400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr3:121724400-121732600	Weak transcription	Fetal Intestine Large	intestine
13	chr3:121724600-121733400	Weak transcription	Primary B cells from peripheral blood	blood
14	chr3:121725400-121728400	Weak transcription	GM12878-XiMat	blood
15	chr3:121726200-121730000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr3:121726200-121732200	Weak transcription	Fetal Intestine Small	intestine
17	chr3:121726200-121735000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:121726600-121728400	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr3:121727000-121728400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr3:121727200-121728400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr3:121728000-121729600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr3:121728400-121728600	Enhancers	GM12878-XiMat	blood
23	chr3:121728400-121729000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr3:121728400-121729000	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr3:121728400-121729400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr3:121728400-121731600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr3:121728600-121729000	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr3:121728600-121732600	Flanking Active TSS	GM12878-XiMat	blood
29	chr3:121729000-121729800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr3:121729000-121738800	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr3:121729400-121729800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr3:121729800-121730400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr3:121730000-121730200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr3:121730000-121730800	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr3:121730400-121732800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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