Variant report

Variant	nsv470468
Chromosome Location	chr2:63374063-63449512
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	ARID3A	chr2:63419225-63422040	HepG2	liver:	n/a	n/a
2	ATF1	chr2:63446125-63446645	K562	blood:	n/a	n/a
3	BACH1	chr2:63386871-63386963	K562	blood:	n/a	n/a
4	BCLAF1	chr2:63445940-63446319	K562	blood:	n/a	n/a
5	BHLHE40	chr2:63420060-63420403	HepG2	liver:	n/a	n/a
6	BHLHE40	chr2:63416097-63416401	GM12878	blood:	n/a	n/a
7	CEBPB	chr2:63449020-63449100	K562	blood:	n/a	n/a
8	CEBPB	chr2:63428140-63428144	HepG2	liver:	n/a	n/a
9	CEBPB	chr2:63420115-63420372	HepG2	liver:	n/a	chr2:63420211-63420220 chr2:63420211-63420220 chr2:63420209-63420222 chr2:63420209-63420220 chr2:63420209-63420222 chr2:63420211-63420220 chr2:63420206-63420223 chr2:63420211-63420222 chr2:63420211-63420220
10	CEBPB	chr2:63420564-63420822	HepG2	liver:	n/a	n/a
11	CEBPB	chr2:63419994-63420449	A549	lung:	n/a	chr2:63420211-63420220 chr2:63420211-63420220 chr2:63420209-63420222 chr2:63420209-63420220 chr2:63420209-63420222 chr2:63420211-63420220 chr2:63420206-63420223 chr2:63420211-63420222 chr2:63420211-63420220
12	CEBPB	chr2:63377387-63377589	HepG2	liver:	n/a	n/a
13	CEBPB	chr2:63420069-63420399	Hela-S3	cervix:	n/a	chr2:63420211-63420220 chr2:63420211-63420220 chr2:63420209-63420222 chr2:63420209-63420220 chr2:63420209-63420222 chr2:63420211-63420220 chr2:63420206-63420223 chr2:63420211-63420222 chr2:63420211-63420220
14	CEBPB	chr2:63420575-63420827	HepG2	liver:	n/a	n/a
15	CEBPB	chr2:63420052-63420359	IMR90	lung:	n/a	chr2:63420211-63420220 chr2:63420211-63420220 chr2:63420209-63420222 chr2:63420209-63420220 chr2:63420209-63420222 chr2:63420211-63420220 chr2:63420206-63420223 chr2:63420211-63420222 chr2:63420211-63420220
16	CEBPB	chr2:63448866-63449228	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr2:63387878-63388047	HepG2	liver:	n/a	n/a
18	CEBPB	chr2:63420042-63420390	A549	lung:	n/a	chr2:63420211-63420220 chr2:63420211-63420220 chr2:63420209-63420222 chr2:63420209-63420220 chr2:63420209-63420222 chr2:63420211-63420220 chr2:63420206-63420223 chr2:63420211-63420222 chr2:63420211-63420220
19	CEBPB	chr2:63419616-63420908	HepG2	liver:	n/a	chr2:63420211-63420220 chr2:63420211-63420220 chr2:63420209-63420222 chr2:63420209-63420220 chr2:63420209-63420222 chr2:63420211-63420220 chr2:63420206-63420223 chr2:63420211-63420222 chr2:63420211-63420220
20	CEBPB	chr2:63420103-63420903	HepG2	liver:	n/a	chr2:63420211-63420220 chr2:63420211-63420220 chr2:63420209-63420222 chr2:63420209-63420220 chr2:63420209-63420222 chr2:63420211-63420220 chr2:63420206-63420223 chr2:63420211-63420222 chr2:63420211-63420220
21	CEBPB	chr2:63406110-63406128	HepG2	liver:	n/a	chr2:63406110-63406121
22	CEBPB	chr2:63420644-63420805	A549	lung:	n/a	n/a
23	CEBPB	chr2:63449020-63449081	A549	lung:	n/a	n/a
24	CEBPB	chr2:63420061-63420377	K562	blood:	n/a	chr2:63420211-63420220 chr2:63420211-63420220 chr2:63420209-63420222 chr2:63420209-63420220 chr2:63420209-63420222 chr2:63420211-63420220 chr2:63420206-63420223 chr2:63420211-63420222 chr2:63420211-63420220
25	CEBPB	chr2:63377430-63377567	HepG2	liver:	n/a	n/a
26	CEBPD	chr2:63420557-63420865	HepG2	liver:	n/a	n/a
27	CEBPD	chr2:63420549-63420804	HepG2	liver:	n/a	n/a
28	CEBPD	chr2:63420070-63420395	HepG2	liver:	n/a	chr2:63420211-63420220 chr2:63420210-63420221
29	CHD2	chr2:63416061-63416421	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr2:63416180-63416330	Hela-S3	cervix:	n/a	n/a
31	CTCF	chr2:63416158-63416371	Hela-S3	cervix:	n/a	n/a
32	CTCF	chr2:63416160-63416310	HAc	cerebellar:	n/a	n/a
33	CTCF	chr2:63416200-63416350	GM12870	blood:	n/a	n/a
34	CTCF	chr2:63390560-63390710	GM12873	blood:	n/a	chr2:63390571-63390580
35	CTCF	chr2:63416200-63416350	SK-N-SH_RA	brain:	n/a	n/a
36	CTCF	chr2:63416180-63416330	HPF	lung:	n/a	n/a
37	CTCF	chr2:63416240-63416390	Hela-S3	cervix:	n/a	n/a
38	CTCF	chr2:63416200-63416350	GM12873	blood:	n/a	n/a
39	CTCF	chr2:63416180-63416330	AG04449	skin:	n/a	n/a
40	CTCF	chr2:63416180-63416330	GM12871	blood:	n/a	n/a
41	CTCF	chr2:63390480-63390630	Hela-S3	cervix:	n/a	chr2:63390571-63390580
42	CTCF	chr2:63416240-63416390	HAc	cerebellar:	n/a	n/a
43	CTCF	chr2:63416200-63416350	HPAF	blood vessel:	n/a	n/a
44	CTCF	chr2:63416200-63416350	HA-sp	spinal cord:	n/a	n/a
45	CTCF	chr2:63416180-63416330	A549	lung:	n/a	n/a
46	CTCF	chr2:63416180-63416330	BJ	skin:	n/a	n/a
47	CTCF	chr2:63416008-63416473	K562	blood:	n/a	n/a
48	CTCF	chr2:63416034-63416422	K562	blood:	n/a	n/a
49	CTCF	chr2:63416160-63416310	SK-N-SH_RA	brain:	n/a	n/a
50	CTCF	chr2:63415306-63416654	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:63412753..63414874-chr2:63416724..63419103,2	K562	blood:
2	chr2:63276578..63278526-chr2:63445505..63447200,2	MCF-7	breast:
3	chr2:63444892..63446878-chr2:63448930..63450827,2	K562	blood:
4	chr2:63380495..63383018-chr2:63391609..63394093,2	K562	blood:
5	chr2:63250422..63251063-chr2:63415754..63416314,2	MCF-7	breast:
6	chr2:63373980..63376722-chr2:63378523..63380385,2	K562	blood:
7	chr2:63415883..63416512-chr2:63651703..63652517,3	MCF-7	breast:
8	chr2:63305442..63306670-chr2:63415898..63416755,7	MCF-7	breast:
9	chr2:63442419..63444599-chr2:63453198..63454821,2	MCF-7	breast:
10	chr2:63277365..63278980-chr2:63414915..63416689,2	MCF-7	breast:
11	chr2:63412753..63414874-chr2:63416724..63419103,2	K562	blood:
12	chr2:63446740..63449410-chr2:63450389..63452777,2	MCF-7	breast:
13	chr2:63305807..63306583-chr2:63416196..63416702,2	K562	blood:
14	chr2:63380495..63383018-chr2:63391609..63394093,2	K562	blood:
15	chr2:63446257..63449242-chr2:63459684..63462648,2	K562	blood:
16	chr2:63444892..63446878-chr2:63448930..63450827,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM17-12	chr2:63380049-63380249	NONHSAT071054

Variant related genes	Relation type
WDPCP	TF binding region
ENSG00000143951	chromatin interactions
ENSG00000115507	chromatin interactions
ENSG00000233716	chromatin interactions

Extended variants
information (count: 2064 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:2064 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4671458	chr2:63374063-63374064	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs138228457	chr2:63374080-63374081	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs191651071	chr2:63374110-63374111	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs73934609	chr2:63374119-63374120	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs372765776	chr2:63374137-63374138	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs183749888	chr2:63374152-63374153	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs554115992	chr2:63374171-63374172	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs572561815	chr2:63374173-63374174	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs79618975	chr2:63374205-63374206	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs564414680	chr2:63374211-63374212	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs531614404	chr2:63374225-63374226	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs188079284	chr2:63374255-63374256	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs375577843	chr2:63374347-63374348	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs556194989	chr2:63374420-63374421	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs551791962	chr2:63374494-63374495	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs368987238	chr2:63374532-63374533	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs11685079	chr2:63374600-63374601	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs149554877	chr2:63374672-63374673	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs547870756	chr2:63374717-63374718	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs547861772	chr2:63374731-63374732	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs565744968	chr2:63374737-63374738	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs533112342	chr2:63374738-63374739	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs182217914	chr2:63374788-63374789	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs536422349	chr2:63374821-63374822	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs117371062	chr2:63374822-63374823	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs555094507	chr2:63374852-63374853	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs185552107	chr2:63374860-63374861	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs534458321	chr2:63374952-63374953	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs190025643	chr2:63374972-63374973	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs181616403	chr2:63374974-63374975	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs10189233	chr2:63374986-63374987	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs539613218	chr2:63375029-63375030	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs564280428	chr2:63375047-63375048	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs550483048	chr2:63375057-63375058	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs574652751	chr2:63375102-63375103	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs375023042	chr2:63375103-63375104	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs557916778	chr2:63375114-63375115	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs576357634	chr2:63375115-63375116	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs537285131	chr2:63375117-63375118	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs397984814	chr2:63375123-63375124	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs543704623	chr2:63375298-63375299	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs77976575	chr2:63375311-63375312	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs573937594	chr2:63375355-63375356	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs541168794	chr2:63375384-63375385	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs138087913	chr2:63375423-63375424	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs142655272	chr2:63375513-63375514	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs146043628	chr2:63375514-63375515	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs563448384	chr2:63375521-63375522	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs114632409	chr2:63375530-63375531	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs139905847	chr2:63375567-63375568	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
lymphocytic leukemia	21291569	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
Acute lymphoblastic leukemia	20435627	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
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Autism	22579565	CNVD
Autism	16963482	CNVD
Autism	21750575	CNVD
idiopathic intellectual disability	16963482	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Follicular lymphoma	17699855	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63346600-63399200	Weak transcription	Left Ventricle	heart
2	chr2:63364400-63384800	Weak transcription	Ovary	ovary
3	chr2:63370600-63400600	Weak transcription	Fetal Lung	lung
4	chr2:63371200-63396400	Weak transcription	Gastric	stomach
5	chr2:63372600-63391400	Weak transcription	Aorta	Aorta
6	chr2:63372800-63374400	Weak transcription	Dnd41	blood
7	chr2:63372800-63378200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr2:63372800-63384000	Weak transcription	Adipose Nuclei	Adipose
9	chr2:63373400-63395600	Weak transcription	Primary B cells from cord blood	blood
10	chr2:63374400-63374600	ZNF genes & repeats	Dnd41	blood
11	chr2:63374600-63380200	Weak transcription	Dnd41	blood
12	chr2:63375200-63391400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:63375400-63376600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:63376600-63377800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:63376800-63379800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr2:63377200-63377800	Enhancers	HepG2	liver
17	chr2:63377800-63379600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:63378200-63378800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr2:63378800-63388800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr2:63385600-63389800	Weak transcription	Fetal Heart	heart
21	chr2:63388000-63388200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:63388200-63389200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:63391400-63391800	ZNF genes & repeats	Aorta	Aorta
24	chr2:63391400-63392600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:63391800-63397200	Weak transcription	Aorta	Aorta
26	chr2:63392200-63394800	Weak transcription	Right Atrium	heart
27	chr2:63392400-63399200	Weak transcription	Adipose Nuclei	Adipose
28	chr2:63392800-63400800	Weak transcription	Ovary	ovary
29	chr2:63394200-63396600	Weak transcription	Fetal Stomach	stomach
30	chr2:63394600-63395200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:63395800-63396000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr2:63397200-63397800	ZNF genes & repeats	Aorta	Aorta
33	chr2:63397800-63399200	Weak transcription	Brain Hippocampus Middle	brain
34	chr2:63397800-63406000	Weak transcription	Aorta	Aorta
35	chr2:63398400-63399600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr2:63398400-63401000	Weak transcription	Primary T cells from cord blood	blood
37	chr2:63399200-63399400	ZNF genes & repeats	Brain Hippocampus Middle	brain
38	chr2:63399200-63400000	Strong transcription	Adipose Nuclei	Adipose
39	chr2:63399200-63400000	Strong transcription	Left Ventricle	heart
40	chr2:63399200-63401600	Weak transcription	Small Intestine	intestine
41	chr2:63399400-63403000	Weak transcription	Brain Hippocampus Middle	brain
42	chr2:63399600-63401600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr2:63400000-63403400	Weak transcription	Adipose Nuclei	Adipose
44	chr2:63400000-63416000	Weak transcription	Left Ventricle	heart
45	chr2:63406000-63406200	ZNF genes & repeats	Aorta	Aorta
46	chr2:63411000-63411400	Enhancers	HepG2	liver
47	chr2:63411400-63412600	Weak transcription	HepG2	liver
48	chr2:63412600-63412800	Enhancers	HepG2	liver
49	chr2:63413200-63414000	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr2:63414400-63416400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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