Variant report

Variant	esv1840702
Chromosome Location	chr10:38738847-38741100
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:490)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr10:38738721-38738938	K562	blood:	n/a	n/a
2	CEBPB	chr10:38738701-38739205	HepG2	liver:	n/a	n/a
3	CTCF	chr10:38739802-38739881	Spleen_OC	spleen:	n/a	n/a
4	FOSL2	chr10:38738667-38739188	HepG2	liver:	n/a	n/a
5	NR2F2	chr10:38739168-38739414	K562	blood:	n/a	n/a
6	POLR2A	chr10:38739358-38739643	K562	blood:	n/a	n/a
7	RXRA	chr10:38738699-38738921	HepG2	liver:	n/a	n/a
8	SP1	chr10:38738660-38739230	HepG2	liver:	n/a	n/a

(count:490 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:38738941-38738991	HEK293	kidney:	embryo
2	chr10:38739478-38739528	Hepatocyte	liver:	n/a
3	chr10:38738941-38738991	HEK293	kidney:	embryo
4	chr10:38739478-38739528	Hepatocyte	liver:	n/a
5	chr10:38740029-38740079	HCM	heart:	n/a
6	chr10:38739506-38739556	AG09319	gingival:	n/a
7	chr10:38739819-38739869	SK-N-SH	brain:	n/a
8	chr10:38739849-38739899	HCT-116	colon:	n/a
9	chr10:38740029-38740079	BJ	skin:	n/a
10	chr10:38739885-38739935	AoSMC	blood vessel:	n/a
11	chr10:38738941-38738991	AG04450	lung:	fetal
12	chr10:38740029-38740079	GM19239	blood:	n/a
13	chr10:38738941-38738991	HL-60	blood:	n/a
14	chr10:38739849-38739899	NHDF-neo	bronchial:	n/a
15	chr10:38739506-38739556	U87	brain:	n/a
16	chr10:38738941-38738991	AG09309	skin:	n/a
17	chr10:38738941-38738991	HCF	heart:	n/a
18	chr10:38740029-38740079	A549	lung:	n/a
19	chr10:38739819-38739869	Hepatocyte	liver:	n/a
20	chr10:38740319-38740369	HAEpiC	amniotic membrane:	n/a
21	chr10:38740319-38740369	HPAEpiC	pulmonary alveolar:	n/a
22	chr10:38740319-38740369	PANC-1	pancreas:	n/a
23	chr10:38739478-38739528	AG09309	skin:	n/a
24	chr10:38739885-38739935	NHDF-neo	bronchial:	n/a
25	chr10:38740319-38740369	GM19239	blood:	n/a
26	chr10:38740319-38740369	GM12878	blood:	n/a
27	chr10:38738941-38738991	ovcar-3	ovarian:	n/a
28	chr10:38740029-38740079	HCF	heart:	n/a
29	chr10:38740319-38740369	GM12892	blood:	n/a
30	chr10:38740319-38740369	HMEC	breast:	n/a
31	chr10:38739885-38739935	HMEC	breast:	n/a
32	chr10:38738941-38738991	ECC-1	luminal epithelium:	n/a
33	chr10:38739849-38739899	NB4	blood:	n/a
34	chr10:38739478-38739528	HEEpiC	esophagus:	n/a
35	chr10:38739506-38739556	HepG2	liver:	n/a
36	chr10:38740319-38740369	MCF-7	breast:	n/a
37	chr10:38739478-38739528	T-47D	breast:	n/a
38	chr10:38738941-38738991	Caco-2	colon:	n/a
39	chr10:38739885-38739935	NB4	blood:	n/a
40	chr10:38740319-38740369	IMR90	lung:	fetal
41	chr10:38739885-38739935	ProgFib	skin:	n/a
42	chr10:38739478-38739528	Hela-S3	cervix:	n/a
43	chr10:38739506-38739556	Jurkat	blood:	n/a
44	chr10:38739506-38739556	CMK	blood:	n/a
45	chr10:38739885-38739935	SK-N-MC	brain:	n/a
46	chr10:38739478-38739528	HMEC	breast:	n/a
47	chr10:38740029-38740079	AG09319	gingival:	n/a
48	chr10:38740029-38740079	NT2-D1	testis:	n/a
49	chr10:38739478-38739528	SKMC	muscle:	n/a
50	chr10:38739506-38739556	HCM	heart:	n/a

No data

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

Extended variants
information (count: 247 )
Associated
traits (count: 38 )

Variant overlapped rSNPs/rCNVs (count:247 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17595584	chr10:38738855-38738856	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs76435993	chr10:38738865-38738866	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs559355589	chr10:38738879-38738880	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs528075069	chr10:38738882-38738883	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs17595591	chr10:38738885-38738886	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs372028593	chr10:38738904-38738905	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs547777990	chr10:38738905-38738906	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs375178312	chr10:38738912-38738913	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs561686116	chr10:38738921-38738922	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs530698083	chr10:38738922-38738923	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs17595598	chr10:38738934-38738935	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs560778810	chr10:38738959-38738960	ZNF genes & repeats Weak transcription Strong transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
13	rs17611503	chr10:38738961-38738962	ZNF genes & repeats Weak transcription Strong transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
14	rs17611510	chr10:38738970-38738971	ZNF genes & repeats Weak transcription Strong transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
15	rs17611517	chr10:38738971-38738972	ZNF genes & repeats Weak transcription Strong transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
16	rs376982303	chr10:38738978-38738979	ZNF genes & repeats Weak transcription Strong transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
17	rs17611524	chr10:38738980-38738981	ZNF genes & repeats Weak transcription Strong transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
18	rs570576727	chr10:38739002-38739003	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs539586143	chr10:38739016-38739017	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs552400261	chr10:38739018-38739019	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs17595605	chr10:38739019-38739020	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs563623465	chr10:38739025-38739026	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs566119499	chr10:38739026-38739027	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs550785055	chr10:38739032-38739033	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs531563626	chr10:38739040-38739041	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs17595612	chr10:38739043-38739044	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs17595619	chr10:38739051-38739052	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs28507225	chr10:38739059-38739060	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs535066766	chr10:38739064-38739065	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs17595626	chr10:38739065-38739066	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs17595633	chr10:38739068-38739069	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs17611531	chr10:38739069-38739070	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs17611538	chr10:38739078-38739079	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs371298237	chr10:38739081-38739082	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs17611545	chr10:38739098-38739099	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs17611552	chr10:38739101-38739102	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs17595640	chr10:38739114-38739115	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs575245862	chr10:38739130-38739131	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs537721531	chr10:38739137-38739138	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs17595647	chr10:38739142-38739143	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs370147874	chr10:38739144-38739145	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs17595654	chr10:38739149-38739150	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs17595661	chr10:38739163-38739164	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs577373021	chr10:38739164-38739165	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs17611559	chr10:38739167-38739168	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs546328530	chr10:38739171-38739172	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs552837496	chr10:38739172-38739173	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs572883940	chr10:38739173-38739174	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs17611566	chr10:38739176-38739177	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs541457572	chr10:38739178-38739179	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:74 , 50 per page) page: 1 2

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	chr10:38700200-38739600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr10:38711200-38739600	Weak transcription	Adipose Nuclei	Adipose
7	chr10:38723400-38739400	Weak transcription	Brain Angular Gyrus	brain
8	chr10:38724800-38739600	Weak transcription	Fetal Lung	lung
9	chr10:38725000-38739000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr10:38725400-38739000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr10:38726400-38739400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr10:38727800-38740600	Weak transcription	Psoas Muscle	Psoas
13	chr10:38731400-38739200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr10:38733400-38739600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr10:38733800-38739200	Weak transcription	Dnd41	blood
16	chr10:38734400-38740000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr10:38735400-38739600	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr10:38736600-38739200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr10:38736800-38739000	Strong transcription	Lung	lung
20	chr10:38736800-38740600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr10:38737000-38739400	Weak transcription	NHLF	lung
22	chr10:38737200-38739000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr10:38737200-38739800	Strong transcription	Brain Hippocampus Middle	brain
24	chr10:38737200-38739800	ZNF genes & repeats	Fetal Stomach	stomach
25	chr10:38737200-38740400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr10:38737600-38739200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr10:38737800-38739200	Weak transcription	Duodenum Mucosa	Duodenum
28	chr10:38737800-38739400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr10:38737800-38739600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
30	chr10:38738000-38739600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr10:38738000-38739600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr10:38738000-38739600	Weak transcription	Placenta	Placenta
33	chr10:38738200-38739800	Weak transcription	Primary T cells from cord blood	blood
34	chr10:38738200-38739800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr10:38738200-38739800	Weak transcription	Stomach Smooth Muscle	stomach
36	chr10:38738400-38739400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr10:38738400-38739400	Weak transcription	Fetal Muscle Leg	muscle
38	chr10:38738400-38739400	Weak transcription	Spleen	Spleen
39	chr10:38738400-38739600	Weak transcription	Fetal Intestine Small	intestine
40	chr10:38738400-38739600	Weak transcription	Ovary	ovary
41	chr10:38738400-38740000	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr10:38738400-38740000	Weak transcription	Liver	Liver
43	chr10:38738400-38740000	Weak transcription	Brain Cingulate Gyrus	brain
44	chr10:38738400-38740000	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr10:38738400-38740000	Weak transcription	Right Ventricle	heart
46	chr10:38738400-38741200	Weak transcription	Brain Anterior Caudate	brain
47	chr10:38738400-38742000	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr10:38738600-38740600	Weak transcription	Pancreas	Pancrea
49	chr10:38738800-38740400	Weak transcription	Fetal Muscle Trunk	muscle
50	chr10:38738800-38740400	Weak transcription	Thymus	Thymus

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