Variant report

Variant	nsv873807
Chromosome Location	chr2:34230442-34369656
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:675)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:675 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr2:34321987-34322130	H1-hESC	embryonic stem cell:	n/a	n/a
2	BHLHE40	chr2:34318851-34319200	GM12878	blood:	n/a	n/a
3	BHLHE40	chr2:34237938-34237989	K562	blood:	n/a	n/a
4	BRCA1	chr2:34321723-34321955	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr2:34329961-34330780	IMR90	lung:	n/a	n/a
6	CEBPB	chr2:34327416-34327754	IMR90	lung:	n/a	n/a
7	CEBPB	chr2:34351362-34351712	HepG2	liver:	n/a	n/a
8	CEBPB	chr2:34237910-34238054	HepG2	liver:	n/a	n/a
9	CEBPB	chr2:34330050-34330691	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr2:34237654-34238159	H1-hESC	embryonic stem cell:	n/a	n/a
11	CEBPB	chr2:34237819-34238137	HepG2	liver:	n/a	n/a
12	CEBPB	chr2:34242505-34242705	HepG2	liver:	n/a	n/a
13	CEBPB	chr2:34282589-34282874	HepG2	liver:	n/a	n/a
14	CEBPB	chr2:34341235-34341427	HepG2	liver:	n/a	n/a
15	CEBPB	chr2:34331805-34332056	A549	lung:	n/a	chr2:34331898-34331909
16	CEBPB	chr2:34237882-34238165	A549	lung:	n/a	n/a
17	CEBPB	chr2:34292173-34292361	HepG2	liver:	n/a	chr2:34292232-34292243
18	CEBPB	chr2:34331757-34332067	IMR90	lung:	n/a	chr2:34331898-34331909
19	CEBPB	chr2:34351399-34351724	A549	lung:	n/a	n/a
20	CEBPB	chr2:34351375-34351733	IMR90	lung:	n/a	n/a
21	CEBPB	chr2:34331823-34332032	H1-hESC	embryonic stem cell:	n/a	chr2:34331898-34331909
22	CEBPB	chr2:34282612-34282876	A549	lung:	n/a	n/a
23	CEBPB	chr2:34331718-34332056	HepG2	liver:	n/a	chr2:34331898-34331909
24	CEBPB	chr2:34315236-34315504	HepG2	liver:	n/a	chr2:34315355-34315366
25	CEBPB	chr2:34327493-34327598	A549	lung:	n/a	n/a
26	CHD2	chr2:34237878-34238102	GM12878	blood:	n/a	n/a
27	CHD2	chr2:34237832-34238198	H1-hESC	embryonic stem cell:	n/a	n/a
28	CHD2	chr2:34318894-34319185	GM12878	blood:	n/a	n/a
29	CTCF	chr2:34237855-34238032	SK-N-SH_RA	brain:	n/a	n/a
30	CTCF	chr2:34237757-34238148	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr2:34237850-34238118	GM19240	blood:	n/a	n/a
32	CTCF	chr2:34321713-34321964	HepG2	liver:	n/a	n/a
33	CTCF	chr2:34321760-34321910	HCPEpiC	choroid plexus:	n/a	n/a
34	CTCF	chr2:34237720-34237870	HAc	cerebellar:	n/a	n/a
35	CTCF	chr2:34237900-34238050	GM12866	blood:	n/a	n/a
36	CTCF	chr2:34321682-34321961	Medullo	brain:	n/a	n/a
37	CTCF	chr2:34321623-34322057	HepG2	liver:	n/a	n/a
38	CTCF	chr2:34321780-34321930	AG04450	lung:	n/a	n/a
39	CTCF	chr2:34321676-34321956	Gliobla	brain:	n/a	n/a
40	CTCF	chr2:34321780-34321930	WERI-Rb-1	eye:	n/a	n/a
41	CTCF	chr2:34237880-34238030	BJ	skin:	n/a	n/a
42	CTCF	chr2:34237880-34238030	HepG2	liver:	n/a	n/a
43	CTCF	chr2:34321760-34321910	K562	blood:	n/a	n/a
44	CTCF	chr2:34321800-34321950	GM12871	blood:	n/a	n/a
45	CTCF	chr2:34321515-34321522	GM10266	blood:	n/a	n/a
46	CTCF	chr2:34237861-34238097	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr2:34237890-34238098	Fibrobl	skin:	n/a	n/a
48	CTCF	chr2:34321702-34321937	GM10266	blood:	n/a	n/a
49	CTCF	chr2:34237880-34238030	NHEK	skin:	n/a	n/a
50	CTCF	chr2:34321766-34321881	GM19239	blood:	n/a	n/a

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:20810431..20812269-chr2:34245445..34246945,2	MCF-7	breast:
2	chr2:34237451..34238372-chr2:34321266..34322187,3	MCF-7	breast:
3	chr2:34334993..34337694-chr2:34340157..34342643,2	K562	blood:
4	chr2:34237506..34238447-chr2:34795265..34796658,5	MCF-7	breast:
5	chr10:124597456..124597958-chr2:34237773..34238411,2	MCF-7	breast:
6	chr2:34324491..34327338-chr2:34327561..34329321,2	MCF-7	breast:
7	chr2:34237421..34238380-chr2:35339556..35340362,2	MCF-7	breast:
8	chr2:34253322..34256129-chr2:34261257..34263423,2	K562	blood:
9	chr2:34237681..34238401-chr2:34795339..34796232,5	MCF-7	breast:
10	chr2:34237581..34238416-chr2:34963443..34964247,2	MCF-7	breast:
11	chr2:34321381..34322557-chr2:34795669..34796275,5	MCF-7	breast:
12	chr2:34253322..34256129-chr2:34261257..34263423,2	K562	blood:
13	chr14:20811148..20811932-chr2:34244925..34245925,2	MCF-7	breast:
14	chr2:34334993..34337694-chr2:34340157..34342643,2	K562	blood:
15	chr2:34324491..34327338-chr2:34327561..34329321,2	MCF-7	breast:
16	chr2:34321239..34322372-chr2:34772370..34773083,4	MCF-7	breast:
17	chr2:33906087..33906631-chr2:34321375..34322022,2	MCF-7	breast:
18	chr2:34237451..34238372-chr2:34321266..34322187,3	MCF-7	breast:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RASGRP3-2	chr2:34293281-34293347	XLOC_001422
2	lnc-RASGRP3-2	chr2:34288818-34293939	NONHSAT070031
3	lnc-RASGRP3-1	chr2:34285817-34285994	ENSG00000203386
4	lnc-RASGRP3-2	chr2:34292293-34292370	XLOC_001422
5	lnc-RASGRP3-2	chr2:34294166-34294617	XLOC_001422
6	lnc-RASGRP3-1	chr2:34286086-34286114	ENSG00000203386
7	lnc-RASGRP3-2	chr2:34284362-34284586	NONHSAT070031

No data

Variant related genes	Relation type
ENSG00000237790	TF binding region
ENSG00000259001	chromatin interactions
ENSG00000138161	chromatin interactions
ENSG00000129484	chromatin interactions

Extended variants
information (count: 2263 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:2263 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1848966	chr2:34230442-34230443	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs572775849	chr2:34230453-34230454	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs373033184	chr2:34230495-34230496	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs374831792	chr2:34230500-34230501	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs562582120	chr2:34230543-34230544	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs74406186	chr2:34230551-34230552	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs551370612	chr2:34230606-34230607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs139296991	chr2:34230632-34230633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs527582215	chr2:34230647-34230648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs547285007	chr2:34230648-34230649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567161046	chr2:34230680-34230681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561731672	chr2:34230693-34230694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs6755700	chr2:34230751-34230752	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs549684275	chr2:34230754-34230755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs569352874	chr2:34230764-34230765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs573789857	chr2:34230765-34230766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs187500304	chr2:34230773-34230774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs372734032	chr2:34230815-34230816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs564729174	chr2:34230822-34230823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs537914251	chr2:34230866-34230867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs146922542	chr2:34230894-34230895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs571665936	chr2:34230934-34230935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs6543798	chr2:34230945-34230946	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs554489789	chr2:34230958-34230959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs192457317	chr2:34230966-34230967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs143504170	chr2:34230967-34230968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs368811513	chr2:34231074-34231075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs556445458	chr2:34231104-34231105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs144089565	chr2:34231108-34231109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs148662093	chr2:34231121-34231122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs370721173	chr2:34231145-34231146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs564583425	chr2:34231194-34231195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs80339501	chr2:34231239-34231240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs183802112	chr2:34231247-34231248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs371526618	chr2:34231260-34231261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs560873827	chr2:34231382-34231383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs111756470	chr2:34231413-34231414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs3054673	chr2:34231441-34231442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs373582362	chr2:34231480-34231481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs529915209	chr2:34231509-34231510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs141236139	chr2:34231525-34231526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs569707161	chr2:34231541-34231542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs78180342	chr2:34231562-34231563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs187971931	chr2:34231573-34231574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs529830218	chr2:34236819-34236820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs186966927	chr2:34236823-34236824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs562989937	chr2:34236860-34236861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs574031673	chr2:34236869-34236870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs531799078	chr2:34236898-34236899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs191058837	chr2:34236910-34236911	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
Autism	22495309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:170 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:34229000-34231400	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr2:34229600-34231400	Enhancers	Brain Substantia Nigra	brain
3	chr2:34229800-34231400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:34230200-34230600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
5	chr2:34230400-34230600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:34230400-34231000	Enhancers	Brain Anterior Caudate	brain
7	chr2:34230400-34231200	Enhancers	Brain Angular Gyrus	brain
8	chr2:34230400-34231200	Enhancers	Brain Germinal Matrix	brain
9	chr2:34230400-34231400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr2:34230400-34231400	Enhancers	Brain Cingulate Gyrus	brain
11	chr2:34230400-34231600	Enhancers	Brain Hippocampus Middle	brain
12	chr2:34230600-34231200	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr2:34236800-34237800	Enhancers	Fetal Lung	lung
14	chr2:34237400-34237800	Enhancers	Brain Hippocampus Middle	brain
15	chr2:34237400-34237800	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr2:34237400-34238200	Enhancers	Fetal Stomach	stomach
17	chr2:34237600-34238200	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr2:34237600-34238200	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr2:34237600-34238200	Enhancers	Brain Anterior Caudate	brain
20	chr2:34237600-34238200	Enhancers	Brain Cingulate Gyrus	brain
21	chr2:34237600-34238200	Enhancers	Fetal Kidney	kidney
22	chr2:34237600-34238200	Enhancers	Rectal Smooth Muscle	rectum
23	chr2:34237800-34238200	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr2:34237800-34238200	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr2:34237800-34238200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
26	chr2:34238200-34240600	Weak transcription	Fetal Kidney	kidney
27	chr2:34240600-34240800	ZNF genes & repeats	Fetal Kidney	kidney
28	chr2:34243000-34248800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr2:34248800-34249200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr2:34249400-34250200	Weak transcription	Left Ventricle	heart
31	chr2:34249600-34250600	Enhancers	Stomach Smooth Muscle	stomach
32	chr2:34249800-34250600	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr2:34249800-34250600	Enhancers	Fetal Stomach	stomach
34	chr2:34250200-34250600	Enhancers	Colon Smooth Muscle	Colon
35	chr2:34250400-34251000	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr2:34250400-34251000	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr2:34250600-34255400	Weak transcription	Fetal Stomach	stomach
38	chr2:34250600-34255800	Weak transcription	Stomach Smooth Muscle	stomach
39	chr2:34250600-34256000	Weak transcription	Colon Smooth Muscle	Colon
40	chr2:34250600-34256200	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr2:34255200-34256400	Enhancers	Rectal Smooth Muscle	rectum
42	chr2:34255400-34255800	Enhancers	Fetal Stomach	stomach
43	chr2:34255600-34257000	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr2:34255600-34257000	Enhancers	Fetal Heart	heart
45	chr2:34255800-34256000	Weak transcription	Fetal Stomach	stomach
46	chr2:34255800-34257000	Enhancers	Stomach Smooth Muscle	stomach
47	chr2:34256000-34256400	Enhancers	Fetal Stomach	stomach
48	chr2:34256000-34256800	Enhancers	Colon Smooth Muscle	Colon
49	chr2:34256200-34256800	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr2:34262000-34262800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links