Variant report

Variant	esv2763294
Chromosome Location	chr3:119994092-120003434
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:119993238..119995408-chr3:119999571..120001166,2	MCF-7	breast:
2	chr3:119994272..119996913-chr3:120067468..120069034,2	MCF-7	breast:
3	chr3:119812596..119815568-chr3:119997692..119999690,2	MCF-7	breast:
4	chr3:119995285..119996973-chr3:120066681..120068206,2	MCF-7	breast:
5	chr3:119998538..120000450-chr3:120002439..120005114,2	K562	blood:
6	chr3:119993238..119995408-chr3:119999571..120001166,2	MCF-7	breast:
7	chr3:120002820..120005702-chr3:120066388..120068289,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163428	chromatin interactions
ENSG00000240661	chromatin interactions
ENSG00000175697	chromatin interactions
ENSG00000242622	chromatin interactions
ENSG00000082701	chromatin interactions

Extended variants
information (count: 275 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:275 , 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	rs543805819	chr3:119994169-119994170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576829009	chr3:119994174-119994175	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529753781	chr3:119994225-119994226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546373736	chr3:119994294-119994295	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs144057712	chr3:119994301-119994302	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs532433858	chr3:119994342-119994343	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs146816967	chr3:119994387-119994388	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs373505511	chr3:119994398-119994399	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs569143890	chr3:119994550-119994551	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs369332245	chr3:119994592-119994593	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs183064124	chr3:119994593-119994594	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs138906109	chr3:119994596-119994597	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs187534614	chr3:119994670-119994671	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs190591370	chr3:119994719-119994720	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs149400033	chr3:119994746-119994747	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs564393026	chr3:119994800-119994801	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs530091984	chr3:119994807-119994808	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs144754884	chr3:119994825-119994826	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs112850654	chr3:119994847-119994848	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs576347882	chr3:119994861-119994862	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs373282753	chr3:119994899-119994900	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs116647529	chr3:119994918-119994919	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs560578695	chr3:119994929-119994930	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs574180826	chr3:119994936-119994937	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs539980130	chr3:119994948-119994949	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs10663633	chr3:119994954-119994955	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs397814331	chr3:119994966-119994967	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs200953687	chr3:119994967-119994968	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs183552196	chr3:119994990-119994991	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs550704593	chr3:119995012-119995013	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs556261503	chr3:119995025-119995026	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs375203525	chr3:119995026-119995027	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs532160141	chr3:119995065-119995066	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs9875613	chr3:119995092-119995093	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs187803950	chr3:119995098-119995099	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs34019988	chr3:119995186-119995187	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs562605717	chr3:119995193-119995194	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs531659070	chr3:119995241-119995242	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs373446689	chr3:119995262-119995263	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs191555268	chr3:119995286-119995287	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs148533500	chr3:119995316-119995317	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs547529833	chr3:119995347-119995348	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs552526649	chr3:119995348-119995349	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs184409792	chr3:119995356-119995357	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs76026755	chr3:119995361-119995362	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs376545895	chr3:119995389-119995390	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs2319672	chr3:119995423-119995424	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs187757301	chr3:119995424-119995425	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs535780860	chr3:119995425-119995426	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs554134925	chr3:119995447-119995448	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Acute lymphoblastic leukemia	21339820	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
Cancer	20164920	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Glioblastoma multiforme	22286061	CNVD
Neurodevelopmental disorder	22521361	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119993200-119994800	Enhancers	Fetal Muscle Leg	muscle
2	chr3:119993200-119994800	Enhancers	Fetal Stomach	stomach
3	chr3:119993400-119994800	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr3:119993400-119995400	Enhancers	HSMM	muscle
5	chr3:119993600-119994400	Enhancers	Fetal Brain Female	brain
6	chr3:119993600-119994400	Enhancers	HSMMtube	muscle
7	chr3:119993600-119994800	Enhancers	Brain Anterior Caudate	brain
8	chr3:119993600-119994800	Enhancers	Psoas Muscle	Psoas
9	chr3:119993600-119995000	Enhancers	Fetal Brain Male	brain
10	chr3:119993800-119994200	Enhancers	Colon Smooth Muscle	Colon
11	chr3:119993800-119994400	Enhancers	Duodenum Smooth Muscle	Duodenum
12	chr3:119993800-119994600	Enhancers	Brain Germinal Matrix	brain
13	chr3:119993800-119995000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr3:119994000-119995800	Weak transcription	A549	lung
15	chr3:119994000-119997600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr3:119994400-119994600	Flanking Active TSS	HSMMtube	muscle
17	chr3:119994400-119995200	Flanking Active TSS	Fetal Brain Female	brain
18	chr3:119994600-119994800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr3:119994600-119994800	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr3:119994600-119995000	Flanking Active TSS	Brain Germinal Matrix	brain
21	chr3:119994600-119995000	Active TSS	HSMMtube	muscle
22	chr3:119994800-119995000	Flanking Active TSS	Fetal Muscle Leg	muscle
23	chr3:119994800-119995200	Enhancers	Muscle Satellite Cultured Cells	--
24	chr3:119995000-119995600	Enhancers	Brain Germinal Matrix	brain
25	chr3:119995200-119995400	Active TSS	Fetal Brain Female	brain
26	chr3:119995800-119996000	Enhancers	A549	lung
27	chr3:119999000-119999200	Enhancers	Thymus	Thymus
28	chr3:119999600-119999800	Bivalent Enhancer	HepG2	liver
29	chr3:120000400-120000600	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr3:120000600-120003400	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr3:120002000-120002400	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr3:120002000-120002400	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr3:120002000-120002400	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr3:120002000-120003200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
35	chr3:120002200-120002600	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr3:120002200-120002800	Active TSS	Fetal Brain Female	brain
37	chr3:120002400-120002600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
38	chr3:120002400-120003000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
39	chr3:120002400-120003200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
40	chr3:120002600-120003000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
41	chr3:120002600-120003000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
42	chr3:120002600-120003400	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr3:120002600-120003600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr3:120002800-120003000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
45	chr3:120002800-120003000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr3:120002800-120003000	Flanking Active TSS	Fetal Brain Female	brain
47	chr3:120002800-120003200	Enhancers	H9 Cell Line	embryonic stem cell
48	chr3:120002800-120003400	Enhancers	Brain Germinal Matrix	brain
49	chr3:120003000-120003200	Active TSS	Fetal Brain Female	brain
50	chr3:120003000-120003400	Enhancers	Colon Smooth Muscle	Colon

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