Variant report

Variant	esv3401953
Chromosome Location	chr10:5657596-5659494
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:122)
Chromatin interactive
region (count:20)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr10:5659027-5659067	GM13976	blood:	n/a	n/a
2	FOXA1	chr10:5657149-5657602	HepG2	liver:	n/a	n/a
3	FOXA2	chr10:5657085-5657664	A549	lung:	n/a	n/a
4	FOXA2	chr10:5657059-5657706	A549	lung:	n/a	n/a
5	MAFK	chr10:5658732-5658747	K562	blood:	n/a	n/a
6	REST	chr10:5658438-5658679	H1-hESC	embryonic stem cell:	n/a	n/a
7	REST	chr10:5658439-5658600	K562	blood:	n/a	n/a
8	TCF12	chr10:5657030-5657687	A549	lung:	n/a	n/a
9	ZBTB7A	chr10:5658478-5658574	K562	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:5658249-5658299	HMEC	breast:	n/a
2	chr10:5658492-5658542	HAEpiC	amniotic membrane:	n/a
3	chr10:5658249-5658299	Hepatocyte	liver:	n/a
4	chr10:5658492-5658542	CMK	blood:	n/a
5	chr10:5658249-5658299	U87	brain:	n/a
6	chr10:5658492-5658542	SK-N-MC	brain:	n/a
7	chr10:5658249-5658299	HAEpiC	amniotic membrane:	n/a
8	chr10:5658249-5658299	LNCaP	prostate:	n/a
9	chr10:5658249-5658299	GM12891	blood:	n/a
10	chr10:5658249-5658299	H1-hESC	embryonic stem cell:	embryo
11	chr10:5658492-5658542	SK-N-SH	brain:	n/a
12	chr10:5658492-5658542	BJ	skin:	n/a
13	chr10:5658249-5658299	AG10803	skin:	n/a
14	chr10:5658249-5658299	AG09309	skin:	n/a
15	chr10:5658249-5658299	HCPEpiC	choroid plexus:	n/a
16	chr10:5658249-5658299	GM06990	blood:	n/a
17	chr10:5658492-5658542	AG09309	skin:	n/a
18	chr10:5658492-5658542	HRE	kidney:	n/a
19	chr10:5658249-5658299	GM12878	blood:	n/a
20	chr10:5658249-5658299	NHBE	bronchial:	n/a
21	chr10:5658249-5658299	HepG2	liver:	n/a
22	chr10:5658249-5658299	HRPEpiC	eye:	n/a
23	chr10:5658492-5658542	GM12878	blood:	n/a
24	chr10:5658492-5658542	AoSMC	blood vessel:	n/a
25	chr10:5658249-5658299	HRCEpiC	kidney:	n/a
26	chr10:5658492-5658542	T-47D	breast:	n/a
27	chr10:5658492-5658542	HUVEC	blood vessel:	n/a
28	chr10:5658492-5658542	HNPCEpiC	eye:	n/a
29	chr10:5658492-5658542	HIPEpiC	eye:	n/a
30	chr10:5658492-5658542	Caco-2	colon:	n/a
31	chr10:5658492-5658542	H1-hESC	embryonic stem cell:	embryo
32	chr10:5658249-5658299	ProgFib	skin:	n/a
33	chr10:5658249-5658299	PrEC	prostate:	n/a
34	chr10:5658492-5658542	SK-N-SH_RA	brain:	n/a
35	chr10:5658492-5658542	ProgFib	skin:	n/a
36	chr10:5658249-5658299	Hela-S3	cervix:	n/a
37	chr10:5658249-5658299	CMK	blood:	n/a
38	chr10:5658249-5658299	A549	lung:	n/a
39	chr10:5658249-5658299	NHDF-neo	bronchial:	n/a
40	chr10:5658492-5658542	NH-A	brain:	n/a
41	chr10:5658492-5658542	HEK293	kidney:	embryo
42	chr10:5658249-5658299	HPAEpiC	pulmonary alveolar:	n/a
43	chr10:5658492-5658542	NHBE	bronchial:	n/a
44	chr10:5658249-5658299	HIPEpiC	eye:	n/a
45	chr10:5658492-5658542	Hela-S3	cervix:	n/a
46	chr10:5658492-5658542	HRCEpiC	kidney:	n/a
47	chr10:5658249-5658299	NB4	blood:	n/a
48	chr10:5658249-5658299	HNPCEpiC	eye:	n/a
49	chr10:5658249-5658299	IMR90	lung:	fetal
50	chr10:5658492-5658542	PFSK-1	brain:	n/a

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:5659171..5662010-chr10:5707160..5709672,2	MCF-7	breast:
2	chr10:5655010..5657602-chr10:5662784..5666424,4	MCF-7	breast:
3	chr10:5487123..5488700-chr10:5656532..5659237,2	K562	blood:
4	chr10:5533027..5543195-chr10:5659124..5672516,23	MCF-7	breast:
5	chr10:5657637..5659280-chr10:5665475..5668063,2	MCF-7	breast:
6	chr10:5651351..5653513-chr10:5657933..5661985,4	K562	blood:
7	chr10:5643461..5645652-chr10:5657052..5659260,2	MCF-7	breast:
8	chr10:5506585..5509485-chr10:5655712..5657765,3	MCF-7	breast:
9	chr10:5483715..5496703-chr10:5653374..5669304,43	MCF-7	breast:
10	chr10:5534628..5543320-chr10:5658612..5667994,15	MCF-7	breast:
11	chr10:5529812..5532374-chr10:5655827..5658800,2	MCF-7	breast:
12	chr10:5636886..5639693-chr10:5658929..5661685,2	MCF-7	breast:
13	chr10:5653836..5655665-chr10:5658185..5659982,2	MCF-7	breast:
14	chr10:5636705..5640848-chr10:5659114..5662313,5	MCF-7	breast:
15	chr10:5484376..5493176-chr10:5653017..5671828,35	MCF-7	breast:
16	chr10:5657592..5659369-chr10:5661066..5662573,2	MCF-7	breast:
17	chr10:5655720..5657948-chr10:5668389..5670960,2	MCF-7	breast:
18	chr10:5650796..5653722-chr10:5656355..5659325,2	MCF-7	breast:
19	chr10:5594983..5597164-chr10:5655086..5657673,2	MCF-7	breast:
20	chr10:5659054..5661643-chr10:5799141..5801779,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ASB13-1	chr10:5658825-5659150	XLOC_008713
2	lnc-ASB13-1	chr10:5659264-5659363	XLOC_008713

No data

Variant related genes	Relation type
ENSG00000231483	TF binding region
ENSG00000231483	CpG island
ENSG00000178372	chromatin interactions
ENSG00000231483	chromatin interactions
ENSG00000108021	chromatin interactions
ENSG00000242147	chromatin interactions
ENSG00000228685	chromatin interactions
ENSG00000196372	chromatin interactions
ENSG00000173848	chromatin interactions

Extended variants
information (count: 74 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142221113	chr10:5657683-5657684	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs539895677	chr10:5657700-5657701	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs529831864	chr10:5657715-5657716	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs558796241	chr10:5657739-5657740	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs577103789	chr10:5657742-5657743	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs556518368	chr10:5657789-5657790	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs146174214	chr10:5657810-5657811	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs112913221	chr10:5657815-5657816	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs142815899	chr10:5657838-5657839	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs541830905	chr10:5657843-5657844	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs114442277	chr10:5657849-5657850	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs530528254	chr10:5657903-5657904	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs545482238	chr10:5657907-5657908	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs564384416	chr10:5657930-5657931	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs528636799	chr10:5657993-5657994	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs118096801	chr10:5658006-5658007	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs568754529	chr10:5658053-5658054	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs545257168	chr10:5658058-5658059	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs529534152	chr10:5658127-5658128	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs550958498	chr10:5658216-5658217	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs569236003	chr10:5658223-5658224	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs375934473	chr10:5658242-5658243	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs374289559	chr10:5658261-5658262	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs7899183	chr10:5658272-5658273	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs570688382	chr10:5658277-5658278	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs534831712	chr10:5658296-5658297	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs552864082	chr10:5658297-5658298	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs574678163	chr10:5658315-5658316	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs541717551	chr10:5658316-5658317	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs35049147	chr10:5658318-5658319	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs71388456	chr10:5658411-5658412	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs186732012	chr10:5658419-5658420	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs556577125	chr10:5658426-5658427	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs574888774	chr10:5658427-5658428	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs77835623	chr10:5658456-5658457	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs545518993	chr10:5658463-5658464	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs563819635	chr10:5658464-5658465	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs74416539	chr10:5658473-5658474	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs75180285	chr10:5658475-5658476	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs563302954	chr10:5658494-5658495	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs111500613	chr10:5658512-5658513	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs572572244	chr10:5658521-5658522	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs183150895	chr10:5658528-5658529	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs542999598	chr10:5658530-5658531	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs561085824	chr10:5658543-5658544	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs540847211	chr10:5658547-5658548	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs562096008	chr10:5658574-5658575	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs529602764	chr10:5658607-5658608	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs187556210	chr10:5658665-5658666	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs531737240	chr10:5658671-5658672	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Cancer	21129771	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
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
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
lymphocytic leukemia	21291569	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Ovarian cancer	22355333	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5650200-5662600	Enhancers	Fetal Muscle Leg	muscle
2	chr10:5650400-5661800	Enhancers	Fetal Muscle Trunk	muscle
3	chr10:5651800-5665000	Weak transcription	Spleen	Spleen
4	chr10:5652200-5660800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr10:5652200-5660800	Weak transcription	Right Ventricle	heart
6	chr10:5652800-5658600	Enhancers	HMEC	breast
7	chr10:5655600-5657600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr10:5655600-5658000	Enhancers	Placenta	Placenta
9	chr10:5655600-5658800	Enhancers	Stomach Smooth Muscle	stomach
10	chr10:5655800-5658000	Enhancers	Muscle Satellite Cultured Cells	--
11	chr10:5655800-5658200	Enhancers	NHDF-Ad	bronchial
12	chr10:5656000-5665000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr10:5656200-5657600	Weak transcription	Fetal Thymus	thymus
14	chr10:5656400-5657600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr10:5656400-5658800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr10:5656400-5660000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr10:5656400-5660200	Weak transcription	Right Atrium	heart
18	chr10:5656400-5660800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr10:5656400-5661200	Weak transcription	Fetal Kidney	kidney
20	chr10:5656600-5657600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr10:5656600-5657600	Weak transcription	Colonic Mucosa	Colon
22	chr10:5656600-5657800	Weak transcription	Ovary	ovary
23	chr10:5656600-5657800	Enhancers	Hela-S3	cervix
24	chr10:5656600-5658000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr10:5656600-5658000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr10:5656600-5658000	Weak transcription	Esophagus	oesophagus
27	chr10:5656600-5658600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr10:5656600-5658800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr10:5656600-5658800	Weak transcription	Pancreas	Pancrea
30	chr10:5656600-5658800	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr10:5656600-5659000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr10:5656600-5659000	Weak transcription	NHEK	skin
33	chr10:5656600-5659000	Enhancers	Osteobl	bone
34	chr10:5656600-5659800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr10:5656600-5660000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr10:5656600-5660000	Enhancers	HepG2	liver
37	chr10:5656600-5660400	Weak transcription	Fetal Intestine Large	intestine
38	chr10:5656600-5661000	Weak transcription	Duodenum Mucosa	Duodenum
39	chr10:5656600-5661000	Weak transcription	Fetal Lung	lung
40	chr10:5656600-5661000	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr10:5656600-5661000	Weak transcription	Stomach Mucosa	stomach
42	chr10:5656600-5661200	Weak transcription	NHLF	lung
43	chr10:5656600-5661400	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr10:5656600-5662800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr10:5656600-5665000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr10:5656600-5665000	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr10:5656800-5659400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr10:5656800-5661000	Weak transcription	HSMMtube	muscle
49	chr10:5656800-5665000	Weak transcription	Liver	Liver
50	chr10:5657000-5659400	Enhancers	Rectal Smooth Muscle	rectum

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