Variant report

Variant	nsv825264
Chromosome Location	chr10:19586545-19664624
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	chr10:19603428-19603923	HepG2	liver:	n/a	n/a
2	BACH1	chr10:19590996-19591316	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr10:19591069-19591317	K562	blood:	n/a	n/a
4	CEBPB	chr10:19621201-19621687	A549	lung:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
5	CEBPB	chr10:19589005-19589242	IMR90	lung:	n/a	n/a
6	CEBPB	chr10:19617597-19617861	H1-hESC	embryonic stem cell:	n/a	chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760
7	CEBPB	chr10:19653229-19653328	IMR90	lung:	n/a	chr10:19653266-19653279 chr10:19653266-19653279 chr10:19653268-19653279 chr10:19653266-19653279 chr10:19653268-19653279
8	CEBPB	chr10:19621253-19621585	MCF-7	breast:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
9	CEBPB	chr10:19616929-19617199	HepG2	liver:	n/a	chr10:19617045-19617054 chr10:19617043-19617054
10	CEBPB	chr10:19621245-19621611	IMR90	lung:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
11	CEBPB	chr10:19630705-19631211	Hela-S3	cervix:	n/a	chr10:19631083-19631092 chr10:19631083-19631092
12	CEBPB	chr10:19617015-19617159	IMR90	lung:	n/a	chr10:19617045-19617054 chr10:19617043-19617054
13	CEBPB	chr10:19648171-19648434	HepG2	liver:	n/a	chr10:19648298-19648311 chr10:19648299-19648310
14	CEBPB	chr10:19617522-19618040	MCF-7	breast:	n/a	chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760
15	CEBPB	chr10:19593499-19593740	HepG2	liver:	n/a	n/a
16	CEBPB	chr10:19589028-19589280	HepG2	liver:	n/a	n/a
17	CEBPB	chr10:19621243-19621575	A549	lung:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
18	CEBPB	chr10:19617569-19617929	HepG2	liver:	n/a	chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760
19	CEBPB	chr10:19617025-19617162	A549	lung:	n/a	chr10:19617045-19617054 chr10:19617043-19617054
20	CEBPB	chr10:19621239-19621618	HepG2	liver:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
21	CEBPB	chr10:19621307-19621498	HepG2	liver:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
22	CEBPB	chr10:19621293-19621574	ECC-1	luminal epithelium:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
23	CEBPB	chr10:19621251-19621616	Hela-S3	cervix:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
24	CEBPB	chr10:19621255-19621616	A549	lung:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
25	CEBPB	chr10:19621246-19621602	K562	blood:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
26	CEBPB	chr10:19621286-19621558	H1-hESC	embryonic stem cell:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
27	CEBPB	chr10:19625503-19625733	HepG2	liver:	n/a	chr10:19625623-19625634
28	CEBPB	chr10:19617562-19617902	MCF-7	breast:	n/a	chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760
29	CEBPB	chr10:19617601-19617911	A549	lung:	n/a	chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760
30	CEBPB	chr10:19617561-19617954	Hela-S3	cervix:	n/a	chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760
31	CEBPB	chr10:19621212-19621668	MCF-7	breast:	n/a	chr10:19621417-19621430 chr10:19621418-19621429 chr10:19621419-19621428 chr10:19621417-19621428
32	CEBPB	chr10:19617567-19617931	IMR90	lung:	n/a	chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760 chr10:19617751-19617760
33	CEBPZ	chr10:19641658-19641670	HepG2	liver:	n/a	n/a
34	CTCF	chr10:19636620-19636770	AG04450	lung:	n/a	n/a
35	CTCF	chr10:19636494-19636852	HepG2	liver:	n/a	n/a
36	CTCF	chr10:19636620-19636770	SAEC	small airway:	n/a	n/a
37	CTCF	chr10:19636540-19636690	HVMF	connective:	n/a	n/a
38	CTCF	chr10:19636660-19636810	MCF-7	breast:	n/a	n/a
39	CTCF	chr10:19636617-19636787	LNCaP	prostate:	n/a	n/a
40	CTCF	chr10:19636660-19636810	HA-sp	spinal cord:	n/a	n/a
41	CTCF	chr10:19636525-19636844	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr10:19636600-19636750	HCM	heart:	n/a	n/a
43	CTCF	chr10:19636620-19636770	HA-sp	spinal cord:	n/a	n/a
44	CTCF	chr10:19636580-19636730	GM12874	blood:	n/a	n/a
45	CTCF	chr10:19636627-19636805	HepG2	liver:	n/a	n/a
46	CTCF	chr10:19660058-19660144	GM13976	blood:	n/a	n/a
47	CTCF	chr10:19636680-19636830	AG04450	lung:	n/a	n/a
48	CTCF	chr10:19636680-19636830	AoAF	blood vessel:	n/a	n/a
49	CTCF	chr10:19636620-19636770	AoAF	blood vessel:	n/a	n/a
50	CTCF	chr10:19636668-19636768	Lung_OC	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:19590664..19593584-chr10:19602792..19604860,2	K562	blood:
2	chr10:19623502..19625941-chr10:19631040..19633191,2	K562	blood:
3	chr10:19644040..19646101-chr10:19646355..19648931,2	MCF-7	breast:
4	chr10:19598040..19600371-chr10:19601058..19603498,2	MCF-7	breast:
5	chr10:19644040..19646101-chr10:19646355..19648931,2	MCF-7	breast:
6	chr10:19623502..19625941-chr10:19631040..19633191,2	K562	blood:
7	chr10:19598040..19600371-chr10:19601058..19603498,2	MCF-7	breast:
8	chr10:19590664..19593584-chr10:19602792..19604860,2	K562	blood:
9	chr10:19610336..19613284-chr14:35868183..35870740,2	MCF-7	breast:

Variant related genes	Relation type
MALRD1	TF binding region

Extended variants
information (count: 3431 )
Associated
traits (count: 39 )

Variant overlapped rSNPs/rCNVs (count:3431 , 50 per page) page: 1 2 3 4 5 6 7 ... 69

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139623656	chr10:19586551-19586552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs534552888	chr10:19586564-19586565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs199698107	chr10:19586565-19586566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546467805	chr10:19586584-19586585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538670941	chr10:19586606-19586607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs35566237	chr10:19586607-19586608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs117291975	chr10:19586630-19586631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568297949	chr10:19586631-19586632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs143548514	chr10:19586663-19586664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376320586	chr10:19586681-19586682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554478105	chr10:19586688-19586689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs193237679	chr10:19586700-19586701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540052593	chr10:19586701-19586702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553474339	chr10:19586724-19586725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577703001	chr10:19586772-19586773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545032325	chr10:19586784-19586785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563305593	chr10:19586827-19586828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376263243	chr10:19586831-19586832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543256544	chr10:19586874-19586875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561417933	chr10:19586911-19586912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368506009	chr10:19586957-19586958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551476731	chr10:19586961-19586962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112741736	chr10:19586971-19586972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183552752	chr10:19587016-19587017	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571347112	chr10:19587067-19587068	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs146308434	chr10:19587069-19587070	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2496053	chr10:19587093-19587094	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs2496052	chr10:19587108-19587109	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs1591335	chr10:19587148-19587149	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs554895940	chr10:19587151-19587152	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139594905	chr10:19587166-19587167	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144272237	chr10:19587180-19587181	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187503643	chr10:19587189-19587190	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577739106	chr10:19587250-19587251	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545057027	chr10:19587254-19587255	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556935998	chr10:19587275-19587276	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575279312	chr10:19587301-19587302	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542644591	chr10:19587306-19587307	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375290721	chr10:19587345-19587346	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561659465	chr10:19587354-19587355	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557932942	chr10:19587366-19587367	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs33997375	chr10:19587402-19587403	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528757613	chr10:19587422-19587423	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111844021	chr10:19587431-19587432	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540843415	chr10:19587438-19587439	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368215456	chr10:19587444-19587445	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374325353	chr10:19587453-19587454	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565443560	chr10:19587467-19587468	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs145133813	chr10:19587468-19587469	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs35542650	chr10:19587505-19587506	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:39)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intracranial aneurysm	16715129	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Multiple myeloma	16616336	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	22083797	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:19548600-19587000	Weak transcription	Fetal Intestine Large	intestine
2	chr10:19573000-19606000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr10:19580600-19587000	Weak transcription	Fetal Intestine Small	intestine
4	chr10:19587000-19587400	Enhancers	H9 Cell Line	embryonic stem cell
5	chr10:19587000-19587600	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr10:19587000-19587600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr10:19587000-19587600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr10:19587000-19587800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr10:19587000-19587800	Strong transcription	Fetal Intestine Small	intestine
10	chr10:19587000-19589000	Strong transcription	Fetal Intestine Large	intestine
11	chr10:19587200-19587600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr10:19587200-19587600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr10:19587200-19587800	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr10:19587800-19637800	Weak transcription	Fetal Intestine Small	intestine
15	chr10:19588800-19590400	Weak transcription	NH-A	brain
16	chr10:19589000-19608400	Weak transcription	Fetal Intestine Large	intestine
17	chr10:19590400-19591600	Enhancers	Muscle Satellite Cultured Cells	--
18	chr10:19590400-19591600	Enhancers	HMEC	breast
19	chr10:19590400-19591600	Enhancers	NHEK	skin
20	chr10:19590400-19591600	Enhancers	Osteobl	bone
21	chr10:19590400-19591800	Enhancers	NH-A	brain
22	chr10:19590800-19591200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr10:19591000-19591600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr10:19591800-19593800	Weak transcription	NH-A	brain
25	chr10:19593800-19594600	Enhancers	NH-A	brain
26	chr10:19594600-19598600	Weak transcription	NH-A	brain
27	chr10:19596200-19603600	Weak transcription	HepG2	liver
28	chr10:19598600-19599600	Enhancers	NH-A	brain
29	chr10:19598800-19599800	Enhancers	Osteobl	bone
30	chr10:19599000-19599400	Enhancers	Muscle Satellite Cultured Cells	--
31	chr10:19599200-19599600	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr10:19600800-19601200	Enhancers	Fetal Heart	heart
33	chr10:19608400-19608800	Strong transcription	Fetal Intestine Large	intestine
34	chr10:19608800-19621800	Weak transcription	Fetal Intestine Large	intestine
35	chr10:19612400-19614800	Weak transcription	Duodenum Mucosa	Duodenum
36	chr10:19614400-19615200	Enhancers	NHEK	skin
37	chr10:19614800-19615000	Enhancers	Duodenum Mucosa	Duodenum
38	chr10:19615000-19657000	Weak transcription	Duodenum Mucosa	Duodenum
39	chr10:19618600-19619000	Enhancers	HepG2	liver
40	chr10:19619000-19639400	Weak transcription	HepG2	liver
41	chr10:19621800-19622600	Strong transcription	Fetal Intestine Large	intestine
42	chr10:19622600-19635800	Weak transcription	Fetal Intestine Large	intestine
43	chr10:19635800-19638200	Strong transcription	Fetal Intestine Large	intestine
44	chr10:19637800-19638200	Strong transcription	Fetal Intestine Small	intestine
45	chr10:19638200-19639000	Weak transcription	Fetal Intestine Small	intestine
46	chr10:19638200-19642000	Weak transcription	Fetal Intestine Large	intestine
47	chr10:19639000-19639800	Strong transcription	Fetal Intestine Small	intestine
48	chr10:19639800-19661600	Weak transcription	Fetal Intestine Small	intestine
49	chr10:19642000-19642600	Strong transcription	Fetal Intestine Large	intestine
50	chr10:19642600-19657600	Weak transcription	Fetal Intestine Large	intestine

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