Variant report

Variant	esv19338
Chromosome Location	chr10:38737759-38740414
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:39)
CpG islands
(count:549)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:39 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr10:38738233-38738485	K562	blood:	n/a	n/a
2	CEBPB	chr10:38738721-38738938	K562	blood:	n/a	n/a
3	CEBPB	chr10:38738701-38739205	HepG2	liver:	n/a	n/a
4	CEBPB	chr10:38738140-38738564	K562	blood:	n/a	n/a
5	CEBPB	chr10:38738268-38738409	HepG2	liver:	n/a	n/a
6	CEBPB	chr10:38738324-38738533	K562	blood:	n/a	n/a
7	CTCF	chr10:38739802-38739881	Spleen_OC	spleen:	n/a	n/a
8	CTCF	chr10:38737816-38738174	K562	blood:	n/a	chr10:38737969-38737982
9	CTCF	chr10:38737848-38738144	K562	blood:	n/a	chr10:38737969-38737982
10	FOSL2	chr10:38738667-38739188	HepG2	liver:	n/a	n/a
11	FOSL2	chr10:38738276-38738580	HepG2	liver:	n/a	n/a
12	FOSL2	chr10:38737957-38738264	HepG2	liver:	n/a	chr10:38738162-38738169
13	GABPA	chr10:38738214-38738464	Hela-S3	cervix:	n/a	n/a
14	GATA2	chr10:38737940-38738163	K562	blood:	n/a	n/a
15	HEY1	chr10:38737976-38738107	HepG2	liver:	n/a	n/a
16	HEY1	chr10:38737917-38738202	HepG2	liver:	n/a	n/a
17	HEY1	chr10:38737955-38738160	K562	blood:	n/a	n/a
18	HEY1	chr10:38737891-38738138	K562	blood:	n/a	n/a
19	JUND	chr10:38737940-38738143	HepG2	liver:	n/a	n/a
20	JUND	chr10:38737939-38738126	HepG2	liver:	n/a	n/a
21	NR2F2	chr10:38738148-38738556	K562	blood:	n/a	n/a
22	NR2F2	chr10:38739168-38739414	K562	blood:	n/a	n/a
23	NR2F2	chr10:38738107-38738612	K562	blood:	n/a	n/a
24	POLR2A	chr10:38738157-38738293	Gliobla	brain:	n/a	n/a
25	POLR2A	chr10:38738185-38738413	K562	blood:	n/a	n/a
26	POLR2A	chr10:38738347-38738383	K562	blood:	n/a	n/a
27	POLR2A	chr10:38739358-38739643	K562	blood:	n/a	n/a
28	REST	chr10:38738143-38738523	PANC-1	pancreas:	n/a	n/a
29	RXRA	chr10:38737964-38738144	HepG2	liver:	n/a	n/a
30	RXRA	chr10:38737846-38738183	HepG2	liver:	n/a	n/a
31	RXRA	chr10:38738218-38738541	HepG2	liver:	n/a	n/a
32	RXRA	chr10:38738699-38738921	HepG2	liver:	n/a	n/a
33	SIN3AK20	chr10:38737984-38738135	HepG2	liver:	n/a	n/a
34	SP1	chr10:38737926-38738590	HepG2	liver:	n/a	n/a
35	SP1	chr10:38738660-38739230	HepG2	liver:	n/a	n/a
36	TCF3	chr10:38738173-38738560	GM12878	blood:	n/a	n/a
37	USF1	chr10:38737981-38738132	HepG2	liver:	n/a	n/a
38	ZBTB33	chr10:38738362-38738465	HepG2	liver:	n/a	n/a
39	ZBTB33	chr10:38737860-38738179	K562	blood:	n/a	n/a

(count:549 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:38740029-38740079	HIPEpiC	eye:	n/a
2	chr10:38738647-38738697	AG04449	skin:	fetal
3	chr10:38739506-38739556	GM06990	blood:	n/a
4	chr10:38740029-38740079	RPTEC	kidney:	n/a
5	chr10:38739478-38739528	GM12891	blood:	n/a
6	chr10:38739885-38739935	SAEC	small airway:	n/a
7	chr10:38739849-38739899	AG09319	gingival:	n/a
8	chr10:38738941-38738991	HPAEpiC	pulmonary alveolar:	n/a
9	chr10:38738647-38738697	CMK	blood:	n/a
10	chr10:38740319-38740369	HIPEpiC	eye:	n/a
11	chr10:38740029-38740079	HRCEpiC	kidney:	n/a
12	chr10:38740029-38740079	HCPEpiC	choroid plexus:	n/a
13	chr10:38739506-38739556	NT2-D1	testis:	n/a
14	chr10:38739506-38739556	MCF-7	breast:	n/a
15	chr10:38739478-38739528	HMEC	breast:	n/a
16	chr10:38739506-38739556	HCM	heart:	n/a
17	chr10:38740029-38740079	HepG2	liver:	n/a
18	chr10:38738647-38738697	GM12878	blood:	n/a
19	chr10:38739885-38739935	H1-hESC	embryonic stem cell:	embryo
20	chr10:38739849-38739899	GM06990	blood:	n/a
21	chr10:38738941-38738991	HIPEpiC	eye:	n/a
22	chr10:38740029-38740079	U87	brain:	n/a
23	chr10:38739849-38739899	NHBE	bronchial:	n/a
24	chr10:38738647-38738697	NB4	blood:	n/a
25	chr10:38740319-38740369	IMR90	lung:	fetal
26	chr10:38739506-38739556	NB4	blood:	n/a
27	chr10:38739478-38739528	PFSK-1	brain:	n/a
28	chr10:38738941-38738991	HCM	heart:	n/a
29	chr10:38739478-38739528	NHDF-neo	bronchial:	n/a
30	chr10:38739819-38739869	BE2_C	brain:	n/a
31	chr10:38738941-38738991	H1-hESC	embryonic stem cell:	embryo
32	chr10:38739849-38739899	GM12891	blood:	n/a
33	chr10:38740319-38740369	GM19239	blood:	n/a
34	chr10:38740319-38740369	HMEC	breast:	n/a
35	chr10:38739478-38739528	Jurkat	blood:	n/a
36	chr10:38739849-38739899	CMK	blood:	n/a
37	chr10:38740029-38740079	HCT-116	colon:	n/a
38	chr10:38738647-38738697	GM06990	blood:	n/a
39	chr10:38739506-38739556	HMEC	breast:	n/a
40	chr10:38739819-38739869	HMEC	breast:	n/a
41	chr10:38739819-38739869	RPTEC	kidney:	n/a
42	chr10:38738941-38738991	HAEpiC	amniotic membrane:	n/a
43	chr10:38739506-38739556	BJ	skin:	n/a
44	chr10:38739478-38739528	HL-60	blood:	n/a
45	chr10:38739849-38739899	HEK293	kidney:	embryo
46	chr10:38740319-38740369	U87	brain:	n/a
47	chr10:38738647-38738697	HRCEpiC	kidney:	n/a
48	chr10:38739885-38739935	HL-60	blood:	n/a
49	chr10:38738647-38738697	T-47D	breast:	n/a
50	chr10:38739819-38739869	AG09309	skin:	n/a

No data

Variant related genes	Relation type
ENSG00000203496	TF binding region
ENSG00000203496	CpG island

Extended variants
information (count: 297 )
Associated
traits (count: 38 )

Variant overlapped rSNPs/rCNVs (count:297 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572223229	chr10:38737763-38737764	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs540829469	chr10:38737780-38737781	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560640975	chr10:38737782-38737783	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11594183	chr10:38737792-38737793	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs376899221	chr10:38737801-38737802	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542655909	chr10:38737806-38737807	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs116043689	chr10:38737816-38737817	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs547578266	chr10:38737857-38737858	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs531568128	chr10:38737864-38737865	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs545696060	chr10:38737906-38737907	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs181279827	chr10:38737918-38737919	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs547670176	chr10:38737919-38737920	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs567410028	chr10:38737934-38737935	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs560841263	chr10:38737957-38737958	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs529797318	chr10:38737977-38737978	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs549830870	chr10:38737978-38737979	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs529985533	chr10:38737989-38737990	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs548944309	chr10:38738014-38738015	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs185744633	chr10:38738077-38738078	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs538605975	chr10:38738080-38738081	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs538256301	chr10:38738086-38738087	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs11594251	chr10:38738100-38738101	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs534867529	chr10:38738102-38738103	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs554461438	chr10:38738125-38738126	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs373607421	chr10:38738129-38738130	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs573832717	chr10:38738134-38738135	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs542731696	chr10:38738135-38738136	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs556201552	chr10:38738145-38738146	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs367875391	chr10:38738172-38738173	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs371652798	chr10:38738185-38738186	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs576036301	chr10:38738202-38738203	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs375148490	chr10:38738223-38738224	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs369676893	chr10:38738231-38738232	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs191929595	chr10:38738243-38738244	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs183660041	chr10:38738271-38738272	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs541644253	chr10:38738272-38738273	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs561445191	chr10:38738282-38738283	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs187384956	chr10:38738284-38738285	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs530288889	chr10:38738300-38738301	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs549918632	chr10:38738306-38738307	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs569729050	chr10:38738316-38738317	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs1980634	chr10:38738319-38738320	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
43	rs77591875	chr10:38738321-38738322	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs551884855	chr10:38738329-38738330	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs368181660	chr10:38738360-38738361	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs566007198	chr10:38738369-38738370	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs534600593	chr10:38738383-38738384	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs554374170	chr10:38738389-38738390	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs11011563	chr10:38738403-38738404	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs536807462	chr10:38738406-38738407	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:38)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Colorectal cancer	20459617	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Central neurocytomas	17123091	CNVD
Neurocytoma	17123091	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:38692200-38741000	Weak transcription	Aorta	Aorta
2	chr10:38692400-38739600	Weak transcription	Gastric	stomach
3	chr10:38692800-38741200	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr10:38693000-38739200	Weak transcription	Primary B cells from peripheral blood	blood
5	chr10:38698600-38738800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr10:38700200-38739600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr10:38707600-38738800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr10:38711200-38739600	Weak transcription	Adipose Nuclei	Adipose
9	chr10:38723400-38739400	Weak transcription	Brain Angular Gyrus	brain
10	chr10:38724800-38739600	Weak transcription	Fetal Lung	lung
11	chr10:38725000-38739000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr10:38725400-38739000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr10:38726400-38739400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr10:38727800-38740600	Weak transcription	Psoas Muscle	Psoas
15	chr10:38731400-38739200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr10:38733400-38739600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr10:38733800-38739200	Weak transcription	Dnd41	blood
18	chr10:38734400-38740000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr10:38735400-38739600	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr10:38736200-38738600	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr10:38736600-38738400	Strong transcription	Liver	Liver
22	chr10:38736600-38738800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr10:38736600-38739200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr10:38736800-38737800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr10:38736800-38738000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr10:38736800-38738000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr10:38736800-38738200	Strong transcription	Stomach Smooth Muscle	stomach
28	chr10:38736800-38738400	Strong transcription	Brain Anterior Caudate	brain
29	chr10:38736800-38738400	Strong transcription	Fetal Intestine Small	intestine
30	chr10:38736800-38738400	Strong transcription	Ovary	ovary
31	chr10:38736800-38738400	Strong transcription	Right Ventricle	heart
32	chr10:38736800-38738400	Strong transcription	Skeletal Muscle Male	skeletal muscle
33	chr10:38736800-38738600	Strong transcription	Pancreas	Pancrea
34	chr10:38736800-38738800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr10:38736800-38738800	Strong transcription	Fetal Muscle Trunk	muscle
36	chr10:38736800-38738800	Strong transcription	Thymus	Thymus
37	chr10:38736800-38739000	Strong transcription	Lung	lung
38	chr10:38736800-38740600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr10:38737000-38739400	Weak transcription	NHLF	lung
40	chr10:38737200-38737800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr10:38737200-38737800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr10:38737200-38737800	Strong transcription	Esophagus	oesophagus
43	chr10:38737200-38738200	Strong transcription	Primary T cells from cord blood	blood
44	chr10:38737200-38738400	Strong transcription	Brain Cingulate Gyrus	brain
45	chr10:38737200-38738400	Strong transcription	Brain Inferior Temporal Lobe	brain
46	chr10:38737200-38738400	Strong transcription	Fetal Muscle Leg	muscle
47	chr10:38737200-38738400	Strong transcription	Spleen	Spleen
48	chr10:38737200-38739000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr10:38737200-38739800	Strong transcription	Brain Hippocampus Middle	brain
50	chr10:38737200-38739800	ZNF genes & repeats	Fetal Stomach	stomach

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