Variant report

Variant	nsv581377
Chromosome Location	chr2:34962890-34966406
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:115)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:115 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr2:34963851-34964109	GM12878	blood:	n/a	n/a
2	CHD2	chr2:34963635-34964103	GM12878	blood:	n/a	n/a
3	CTCF	chr2:34963860-34964010	GM12872	blood:	n/a	n/a
4	CTCF	chr2:34963880-34964030	GM12873	blood:	n/a	n/a
5	CTCF	chr2:34964023-34964026	LNCaP	prostate:	n/a	n/a
6	CTCF	chr2:34963960-34964110	HAc	cerebellar:	n/a	n/a
7	CTCF	chr2:34963873-34964032	GM13977	blood:	n/a	n/a
8	CTCF	chr2:34963881-34964029	GM10266	blood:	n/a	n/a
9	CTCF	chr2:34963860-34964010	GM12873	blood:	n/a	n/a
10	CTCF	chr2:34963860-34964010	GM12869	blood:	n/a	n/a
11	CTCF	chr2:34963873-34964003	Gliobla	brain:	n/a	n/a
12	CTCF	chr2:34963840-34963990	GM12867	blood:	n/a	n/a
13	CTCF	chr2:34963821-34963995	HepG2	liver:	n/a	chr2:34963821-34963828
14	CTCF	chr2:34963820-34963970	SK-N-SH_RA	brain:	n/a	chr2:34963821-34963828
15	CTCF	chr2:34963900-34964050	BE2_C	brain:	n/a	n/a
16	CTCF	chr2:34963820-34963970	GM12873	blood:	n/a	chr2:34963821-34963828
17	CTCF	chr2:34963880-34964030	HepG2	liver:	n/a	n/a
18	CTCF	chr2:34963860-34964010	HRPEpiC	eye:	n/a	n/a
19	CTCF	chr2:34963840-34963990	WERI-Rb-1	eye:	n/a	n/a
20	CTCF	chr2:34963880-34964030	GM12872	blood:	n/a	n/a
21	CTCF	chr2:34963853-34964041	MCF-7	breast:	n/a	n/a
22	CTCF	chr2:34963918-34964004	A549	lung:	n/a	n/a
23	CTCF	chr2:34963900-34964050	A549	lung:	n/a	n/a
24	CTCF	chr2:34963920-34964018	GM10248	blood:	n/a	n/a
25	CTCF	chr2:34964040-34964190	HPF	lung:	n/a	n/a
26	CTCF	chr2:34963884-34964016	HUVEC	blood vessel:	n/a	n/a
27	CTCF	chr2:34963891-34964020	GM19239	blood:	n/a	n/a
28	CTCF	chr2:34963840-34963990	GM12869	blood:	n/a	n/a
29	CTCF	chr2:34963860-34964010	GM06990	blood:	n/a	n/a
30	CTCF	chr2:34963860-34964010	GM12870	blood:	n/a	n/a
31	CTCF	chr2:34963840-34963990	BE2_C	brain:	n/a	n/a
32	CTCF	chr2:34963827-34964079	GM12878	blood:	n/a	n/a
33	CTCF	chr2:34963764-34964114	H1-hESC	embryonic stem cell:	n/a	chr2:34963821-34963828
34	CTCF	chr2:34963900-34964050	Caco-2	colon:	n/a	n/a
35	CTCF	chr2:34963880-34964030	Caco-2	colon:	n/a	n/a
36	CTCF	chr2:34963880-34964030	GM06990	blood:	n/a	n/a
37	CTCF	chr2:34963860-34964010	GM12866	blood:	n/a	n/a
38	CTCF	chr2:34963860-34964010	RPTEC	kidney:	n/a	n/a
39	CTCF	chr2:34963860-34964010	HEK293	kidney:	n/a	n/a
40	CTCF	chr2:34963721-34964239	GM12878	blood:	n/a	chr2:34963821-34963828
41	CTCF	chr2:34963860-34964010	HRE	kidney:	n/a	n/a
42	CTCF	chr2:34963840-34963990	HMF	breast:	n/a	n/a
43	CTCF	chr2:34963740-34964030	HL-60	blood:	n/a	chr2:34963821-34963828
44	CTCF	chr2:34963840-34963990	RPTEC	kidney:	n/a	n/a
45	CTCF	chr2:34963820-34964090	MCF-7	breast:	n/a	chr2:34963821-34963828
46	CTCF	chr2:34963882-34964032	MCF-7	breast:	n/a	n/a
47	CTCF	chr2:34963861-34964038	HepG2	liver:	n/a	n/a
48	CTCF	chr2:34963888-34964029	GM19238	blood:	n/a	n/a
49	CTCF	chr2:34963919-34963994	NHEK	skin:	n/a	n/a
50	CTCF	chr2:34963920-34964070	GM12867	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:34237581..34238416-chr2:34963443..34964247,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RASGRP3-4	chr2:34962388-34963298	ENSG00000228262
2	lnc-RASGRP3-4	chr2:34962172-34963510	NONHSAT070051

No data

Variant related genes	Relation type
ENSG00000232153	TF binding region

Extended variants
information (count: 164 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:164 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1917411	chr2:34962890-34962891	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs551651349	chr2:34962893-34962894	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs533338126	chr2:34962904-34962905	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs571570166	chr2:34962921-34962922	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs551617362	chr2:34962948-34962949	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs533937810	chr2:34963018-34963019	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs368255316	chr2:34963024-34963025	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs189111346	chr2:34963038-34963039	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs76527502	chr2:34963067-34963068	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs536333283	chr2:34963080-34963081	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs181581049	chr2:34963118-34963119	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs148114186	chr2:34963152-34963153	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs554307863	chr2:34963158-34963159	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs184224908	chr2:34963177-34963178	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs143791793	chr2:34963191-34963192	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs189419434	chr2:34963215-34963216	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs560684926	chr2:34963221-34963222	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs574508093	chr2:34963244-34963245	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs182012382	chr2:34963257-34963258	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs536953694	chr2:34963260-34963261	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs186226177	chr2:34963263-34963264	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs368525158	chr2:34963278-34963279	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs147242173	chr2:34963304-34963305	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs372504026	chr2:34963332-34963333	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs531800015	chr2:34963339-34963340	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs551516401	chr2:34963374-34963375	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
27	rs566922833	chr2:34963389-34963390	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs113336797	chr2:34963400-34963401	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs190745705	chr2:34963476-34963477	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs372447957	chr2:34963486-34963487	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs140758534	chr2:34963498-34963499	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs78745577	chr2:34963514-34963515	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs76152776	chr2:34963536-34963537	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs572541011	chr2:34963590-34963591	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs568373713	chr2:34963596-34963597	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs143296302	chr2:34963623-34963624	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs61142286	chr2:34963651-34963652	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs542742641	chr2:34963656-34963657	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs13001098	chr2:34963669-34963670	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs557221319	chr2:34963701-34963702	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs6730055	chr2:34963711-34963712	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs574302826	chr2:34963781-34963782	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs565992467	chr2:34963784-34963785	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs6543868	chr2:34963805-34963806	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs375350918	chr2:34963821-34963822	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs562783548	chr2:34963846-34963847	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs114208304	chr2:34963887-34963888	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs181595309	chr2:34963914-34963915	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs185711578	chr2:34963940-34963941	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs190082737	chr2:34963941-34963942	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Breast cancer	21785460	CNVD
Lung cancer	18438408	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
small cell lung cancer	20016488	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:34955200-34963800	Weak transcription	Pancreas	Pancrea
2	chr2:34961400-34967400	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr2:34961600-34966000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:34961800-34963200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:34963200-34964200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr2:34963800-34964200	Enhancers	Pancreas	Pancrea
7	chr2:34966000-34966600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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