Variant report

Variant	nsv1002168
Chromosome Location	chr2:141056296-141157971
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	BACH1	chr2:141148517-141148570	K562	blood:	n/a	n/a
2	BACH1	chr2:141148447-141148687	H1-hESC	embryonic stem cell:	n/a	n/a
3	BRCA1	chr2:141107472-141107496	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr2:141059459-141059780	HepG2	liver:	n/a	chr2:141059596-141059607
5	CEBPB	chr2:141116668-141116974	HepG2	liver:	n/a	chr2:141116822-141116833 chr2:141116821-141116834 chr2:141116821-141116834
6	CEBPB	chr2:141134884-141135167	MCF-7	breast:	n/a	n/a
7	CEBPB	chr2:141143335-141143535	HepG2	liver:	n/a	n/a
8	CEBPB	chr2:141109627-141109764	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPB	chr2:141134785-141135170	A549	lung:	n/a	n/a
10	CEBPB	chr2:141134819-141135043	K562	blood:	n/a	n/a
11	CEBPB	chr2:141099863-141100110	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr2:141111077-141111884	Hela-S3	cervix:	n/a	chr2:141111480-141111493
13	CEBPB	chr2:141134895-141135107	A549	lung:	n/a	n/a
14	CEBPB	chr2:141150440-141150724	HepG2	liver:	n/a	chr2:141150554-141150565
15	CEBPB	chr2:141134832-141135143	A549	lung:	n/a	n/a
16	CEBPB	chr2:141067332-141067618	IMR90	lung:	n/a	chr2:141067445-141067454 chr2:141067445-141067454
17	CEBPB	chr2:141059497-141059710	A549	lung:	n/a	chr2:141059596-141059607
18	CEBPB	chr2:141067429-141067576	A549	lung:	n/a	chr2:141067445-141067454 chr2:141067445-141067454
19	CEBPB	chr2:141150489-141150706	A549	lung:	n/a	chr2:141150554-141150565
20	CEBPB	chr2:141134769-141135184	MCF-7	breast:	n/a	n/a
21	CEBPB	chr2:141134837-141135157	Hela-S3	cervix:	n/a	n/a
22	CEBPB	chr2:141102371-141102693	A549	lung:	n/a	n/a
23	CEBPB	chr2:141060359-141060467	HepG2	liver:	n/a	n/a
24	CEBPB	chr2:141134808-141135165	HepG2	liver:	n/a	n/a
25	CEBPB	chr2:141150461-141150710	Hela-S3	cervix:	n/a	chr2:141150554-141150565
26	CEBPB	chr2:141102001-141102887	Hela-S3	cervix:	n/a	n/a
27	CEBPB	chr2:141067348-141067570	HepG2	liver:	n/a	chr2:141067445-141067454 chr2:141067445-141067454
28	CEBPB	chr2:141150438-141150722	HepG2	liver:	n/a	chr2:141150554-141150565
29	CEBPB	chr2:141114757-141114966	H1-hESC	embryonic stem cell:	n/a	chr2:141114829-141114840 chr2:141114829-141114840 chr2:141114903-141114914
30	CEBPB	chr2:141150483-141150639	HepG2	liver:	n/a	chr2:141150554-141150565
31	CEBPB	chr2:141150434-141150724	HepG2	liver:	n/a	chr2:141150554-141150565
32	CEBPB	chr2:141134832-141135160	H1-hESC	embryonic stem cell:	n/a	n/a
33	CEBPB	chr2:141130146-141130321	HepG2	liver:	n/a	chr2:141130212-141130223
34	CEBPB	chr2:141134909-141135165	ECC-1	luminal epithelium:	n/a	n/a
35	CEBPB	chr2:141114761-141114984	A549	lung:	n/a	chr2:141114829-141114840 chr2:141114829-141114840 chr2:141114903-141114914
36	CEBPB	chr2:141114744-141115072	HepG2	liver:	n/a	chr2:141114829-141114840 chr2:141114829-141114840 chr2:141114903-141114914
37	CEBPB	chr2:141113508-141113853	H1-hESC	embryonic stem cell:	n/a	n/a
38	CEBPB	chr2:141134884-141135048	HepG2	liver:	n/a	n/a
39	CEBPB	chr2:141134824-141135153	IMR90	lung:	n/a	n/a
40	CEBPD	chr2:141150463-141150634	HepG2	liver:	n/a	n/a
41	CHD2	chr2:141106638-141106700	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr2:141107360-141107510	HMF	breast:	n/a	chr2:141107463-141107481 chr2:141107458-141107479
43	CTCF	chr2:141070518-141070545	GM20000	blood:	n/a	n/a
44	CTCF	chr2:141107340-141107490	NHDF-neo	bronchial:	n/a	chr2:141107463-141107481 chr2:141107458-141107479
45	CTCF	chr2:141121460-141121610	HFF	foreskin:	n/a	n/a
46	CTCF	chr2:141136997-141137048	Medullo	brain:	n/a	n/a
47	CTCF	chr2:141107380-141107530	HPF	lung:	n/a	chr2:141107463-141107481 chr2:141107458-141107479
48	CTCF	chr2:141107400-141107550	HMF	breast:	n/a	chr2:141107463-141107481 chr2:141107458-141107479
49	CTCF	chr2:141107320-141107470	HPAF	blood vessel:	n/a	n/a
50	CTCF	chr2:141090200-141090350	HPF	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:141096050..141098665-chr2:141100590..141102243,2	MCF-7	breast:
2	chr2:141096050..141098665-chr2:141100590..141102243,2	MCF-7	breast:
3	chr2:141121172..141124109-chr2:141126429..141129083,2	MCF-7	breast:
4	chr2:141121172..141124109-chr2:141126429..141129083,2	MCF-7	breast:
5	chr2:141154130..141156710-chr2:141158652..141160326,2	MCF-7	breast:

Variant related genes	Relation type
LRP1B	TF binding region

Extended variants
information (count: 2591 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:2591 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532920705	chr2:141056306-141056307	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs540205044	chr2:141056309-141056310	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs116473851	chr2:141056338-141056339	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs529143579	chr2:141056344-141056345	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs548827208	chr2:141056374-141056375	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs193009984	chr2:141056978-141056979	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs184089561	chr2:141057024-141057025	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs111232848	chr2:141057026-141057027	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs528815422	chr2:141057036-141057037	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs146973627	chr2:141057064-141057065	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs548224421	chr2:141057096-141057097	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs188431162	chr2:141057112-141057113	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs551548378	chr2:141057175-141057176	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs538233940	chr2:141059471-141059472	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs558557259	chr2:141059485-141059486	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs10204667	chr2:141059500-141059501	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs192477099	chr2:141059546-141059547	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs554904154	chr2:141059553-141059554	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs574642492	chr2:141059576-141059577	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs549399922	chr2:141059626-141059627	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs543616555	chr2:141059671-141059672	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs562810334	chr2:141059778-141059779	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs531869826	chr2:141059780-141059781	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs545067747	chr2:141059811-141059812	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs138844978	chr2:141059829-141059830	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs527684889	chr2:141059830-141059831	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs547645517	chr2:141059836-141059837	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs567635787	chr2:141059847-141059848	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs530204866	chr2:141059850-141059851	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs149349211	chr2:141059860-141059861	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs144678933	chr2:141059866-141059867	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs112934111	chr2:141059883-141059884	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs72892280	chr2:141060101-141060102	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs534608822	chr2:141060118-141060119	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs554868153	chr2:141060157-141060158	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs188781802	chr2:141060195-141060196	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs373381870	chr2:141060231-141060232	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs116200949	chr2:141060404-141060405	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs12692042	chr2:141060408-141060409	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs565049161	chr2:141060438-141060439	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs572076155	chr2:141060457-141060458	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs541050625	chr2:141060466-141060467	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs566334893	chr2:141066010-141066011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs572111979	chr2:141066023-141066024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs541670571	chr2:141066056-141066057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs595789	chr2:141066069-141066070	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs530288102	chr2:141066097-141066098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs543682081	chr2:141066120-141066121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs371534983	chr2:141066136-141066137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs563355900	chr2:141066153-141066154	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Mental retardation	17621639	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	19435819	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma	21080181	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Autism	22543975	CNVD
Cancer	20164920	CNVD
Hypertension	22686481	CNVD
Hypospadia	22686481	CNVD
Intellectual disability	22686481	CNVD
Omphalocele	22686481	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	22341455	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:141066000-141067200	Enhancers	Fetal Intestine Large	intestine
2	chr2:141066000-141067200	Enhancers	Fetal Intestine Small	intestine
3	chr2:141068400-141070400	Enhancers	Dnd41	blood
4	chr2:141075200-141075800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:141076800-141077000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:141077000-141080400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:141080400-141080800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:141080800-141082200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:141082200-141082600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:141082600-141083000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:141082600-141083200	Enhancers	Dnd41	blood
12	chr2:141089000-141089200	Enhancers	Small Intestine	intestine
13	chr2:141089200-141096200	Weak transcription	Small Intestine	intestine
14	chr2:141094000-141094800	Enhancers	Fetal Intestine Large	intestine
15	chr2:141094000-141094800	Enhancers	Fetal Intestine Small	intestine
16	chr2:141094800-141095800	Weak transcription	Fetal Intestine Small	intestine
17	chr2:141094800-141096400	Enhancers	Duodenum Mucosa	Duodenum
18	chr2:141095800-141096600	Enhancers	Fetal Intestine Small	intestine
19	chr2:141096000-141096800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:141096000-141097000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:141096200-141096600	Enhancers	Small Intestine	intestine
22	chr2:141096400-141096600	Enhancers	Fetal Intestine Large	intestine
23	chr2:141101800-141102600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:141101800-141102800	Enhancers	Hela-S3	cervix
25	chr2:141102400-141102800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:141102400-141103000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:141104200-141104400	Enhancers	H9 Cell Line	embryonic stem cell
28	chr2:141105400-141107600	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr2:141105800-141106000	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr2:141106000-141106800	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr2:141106000-141106800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:141106000-141106800	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr2:141106000-141107000	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr2:141106200-141113600	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr2:141106400-141106800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr2:141106400-141106800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:141106400-141107000	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr2:141106400-141107400	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr2:141106800-141107000	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr2:141106800-141112200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr2:141106800-141113000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr2:141107000-141111200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr2:141107000-141111400	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr2:141107400-141113400	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr2:141107600-141111600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr2:141109200-141109800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr2:141111000-141111600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr2:141111000-141111800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr2:141111000-141112000	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr2:141111000-141112200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links