Variant report

Variant	nsv979013
Chromosome Location	chr2:67434416-67438924
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:52)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:52 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:67437720-67437870	HRPEpiC	eye:	n/a	n/a
2	CTCF	chr2:67437680-67437830	HRPEpiC	eye:	n/a	n/a
3	CTCF	chr2:67437620-67437770	NHLF	lung:	n/a	n/a
4	CTCF	chr2:67437600-67437750	HBMEC	blood vessel:	n/a	n/a
5	CTCF	chr2:67437620-67437770	BE2_C	brain:	n/a	n/a
6	CTCF	chr2:67437600-67437750	GM12865	blood:	n/a	n/a
7	CTCF	chr2:67437600-67437750	AG04450	lung:	n/a	n/a
8	CTCF	chr2:67437560-67437710	GM12864	blood:	n/a	n/a
9	CTCF	chr2:67437640-67437790	AG04450	lung:	n/a	n/a
10	CTCF	chr2:67437680-67437830	HepG2	liver:	n/a	n/a
11	CTCF	chr2:67437440-67437590	A549	lung:	n/a	chr2:67437521-67437534
12	CTCF	chr2:67437660-67437810	HEK293	kidney:	n/a	n/a
13	CTCF	chr2:67437600-67437750	GM12864	blood:	n/a	n/a
14	CTCF	chr2:67437600-67437750	WERI-Rb-1	eye:	n/a	n/a
15	CTCF	chr2:67437500-67437650	GM12871	blood:	n/a	chr2:67437521-67437534
16	CTCF	chr2:67437620-67437770	AoAF	blood vessel:	n/a	n/a
17	CTCF	chr2:67437620-67437770	AG09309	skin:	n/a	n/a
18	CTCF	chr2:67437600-67437750	HA-sp	spinal cord:	n/a	n/a
19	CTCF	chr2:67437680-67437830	HMF	breast:	n/a	n/a
20	CTCF	chr2:67437680-67437830	AoAF	blood vessel:	n/a	n/a
21	CTCF	chr2:67437540-67437690	Caco-2	colon:	n/a	n/a
22	CTCF	chr2:67437600-67437750	HPF	lung:	n/a	n/a
23	CTCF	chr2:67437580-67437730	HEK293	kidney:	n/a	n/a
24	CTCF	chr2:67437600-67437750	NHDF-neo	bronchial:	n/a	n/a
25	CTCF	chr2:67437720-67437870	MCF-7	breast:	n/a	n/a
26	CTCF	chr2:67437720-67437870	BE2_C	brain:	n/a	n/a
27	CTCF	chr2:67437640-67437790	HCPEpiC	choroid plexus:	n/a	n/a
28	CTCF	chr2:67437660-67437810	Hela-S3	cervix:	n/a	n/a
29	CTCF	chr2:67437680-67437830	HAc	cerebellar:	n/a	n/a
30	CTCF	chr2:67437640-67437790	Hela-S3	cervix:	n/a	n/a
31	CTCF	chr2:67437600-67437750	NHEK	skin:	n/a	n/a
32	CTCF	chr2:67438060-67438210	NHEK	skin:	n/a	n/a
33	CTCF	chr2:67437640-67437790	GM12875	blood:	n/a	n/a
34	CTCF	chr2:67437620-67437770	HA-sp	spinal cord:	n/a	n/a
35	CTCF	chr2:67437697-67437766	Hela-S3	cervix:	n/a	n/a
36	CTCF	chr2:67437580-67437730	HMF	breast:	n/a	n/a
37	CTCF	chr2:67437560-67437830	HVMF	connective:	n/a	n/a
38	CTCF	chr2:67437660-67437810	AG10803	skin:	n/a	n/a
39	CTCF	chr2:67437640-67437790	MCF-7	breast:	n/a	n/a
40	CTCF	chr2:67437600-67437750	HPAF	blood vessel:	n/a	n/a
41	CTCF	chr2:67437580-67437730	HCT-116	colon:	n/a	n/a
42	CTCF	chr2:67437620-67437770	K562	blood:	n/a	n/a
43	CTCF	chr2:67437620-67437770	HCFaa	heart:	n/a	n/a
44	ESR1	chr2:67436175-67436450	ECC-1	luminal epithelium:	n/a	n/a
45	NFIC	chr2:67436042-67436750	ECC-1	luminal epithelium:	n/a	n/a
46	NFIC	chr2:67436092-67436727	ECC-1	luminal epithelium:	n/a	n/a
47	POLR2A	chr2:67437288-67437713	H1-neurons	neurons:	n/a	n/a
48	RAD21	chr2:67437480-67437884	H1-hESC	embryonic stem cell:	n/a	n/a
49	RAD21	chr2:67437658-67437892	H1-hESC	embryonic stem cell:	n/a	n/a
50	STAT1	chr2:67437525-67437902	Hela-S3	cervix:	n/a	chr2:67437695-67437706

No data

Variant related genes	Relation type
ENSG00000230906	TF binding region

Extended variants
information (count: 176 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:176 , 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	rs13391684	chr2:67434469-67434470	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs370521495	chr2:67434498-67434499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565511929	chr2:67434574-67434575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535715861	chr2:67434578-67434579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531033456	chr2:67434600-67434601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187839726	chr2:67434673-67434674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561443028	chr2:67434691-67434692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146953027	chr2:67434708-67434709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs137976718	chr2:67434711-67434712	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192510894	chr2:67434759-67434760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184081945	chr2:67434770-67434771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs75241221	chr2:67434782-67434783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541397621	chr2:67434788-67434789	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188816774	chr2:67434816-67434817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140728251	chr2:67434913-67434914	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556738924	chr2:67434929-67434930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181330637	chr2:67434934-67434935	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535844685	chr2:67434950-67434951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553032186	chr2:67434951-67434952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537099506	chr2:67435030-67435031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184352848	chr2:67435050-67435051	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189103841	chr2:67435062-67435063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573560622	chr2:67435070-67435071	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545764598	chr2:67435089-67435090	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565582725	chr2:67435143-67435144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575708923	chr2:67435144-67435145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150075157	chr2:67435257-67435258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530216566	chr2:67435262-67435263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371161701	chr2:67435268-67435269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138948473	chr2:67435345-67435346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560156747	chr2:67435379-67435380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs371008323	chr2:67435408-67435409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs551213537	chr2:67435413-67435414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs550340107	chr2:67435481-67435482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs149427915	chr2:67435491-67435492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs530583780	chr2:67435606-67435607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs377325173	chr2:67435632-67435633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs532232744	chr2:67435688-67435689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs550772354	chr2:67435727-67435728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs552370819	chr2:67435739-67435740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs146377878	chr2:67435749-67435750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs182357170	chr2:67435774-67435775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs552993568	chr2:67435776-67435777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs566430065	chr2:67435815-67435816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs76642004	chr2:67435833-67435834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs527898591	chr2:67435843-67435844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs558951275	chr2:67435895-67435896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs575916399	chr2:67435920-67435921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs544459818	chr2:67435944-67435945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs555182839	chr2:67435950-67435951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
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
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Lung cancer	18438408	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Leukoplakia	24403051	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Colorectal cancer	16272173	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67423800-67437400	Weak transcription	Pancreas	Pancrea
2	chr2:67430000-67437400	Weak transcription	Colon Smooth Muscle	Colon
3	chr2:67432800-67434600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr2:67434600-67435000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr2:67434600-67435200	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr2:67434800-67435200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr2:67434800-67435200	Enhancers	H9 Cell Line	embryonic stem cell
8	chr2:67434800-67435200	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr2:67435200-67442200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:67435400-67436000	Enhancers	Fetal Lung	lung
11	chr2:67436000-67436400	Weak transcription	Fetal Lung	lung
12	chr2:67436200-67436400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr2:67436400-67436600	Enhancers	Fetal Lung	lung
14	chr2:67436400-67440400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr2:67436600-67439000	Weak transcription	Fetal Lung	lung
16	chr2:67437400-67437600	Flanking Active TSS	Colon Smooth Muscle	Colon
17	chr2:67437400-67437600	Enhancers	Fetal Stomach	stomach
18	chr2:67437400-67439000	Enhancers	Pancreas	Pancrea
19	chr2:67437600-67437800	Active TSS	Colon Smooth Muscle	Colon
20	chr2:67437600-67438200	Weak transcription	Fetal Stomach	stomach
21	chr2:67437800-67440400	Weak transcription	Colon Smooth Muscle	Colon
22	chr2:67438200-67438800	Enhancers	Fetal Stomach	stomach
23	chr2:67438800-67440400	Weak transcription	Fetal Stomach	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links