Variant report

Variant	rs808271
Chromosome Location	chr10:116581411-116581412
allele	A/C
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	POLR2A	chr10:116581212-116581785	K562	blood:	n/a	n/a
2	RFX5	chr10:116580617-116581604	Hela-S3	cervix:	n/a	n/a
3	TAF1	chr10:116581372-116581731	HepG2	liver:	n/a	n/a
4	CTCF	chr10:116581289-116581732	MCF-7	breast:	n/a	chr10:116581357-116581370 chr10:116581354-116581372
5	TAF1	chr10:116581371-116581558	PFSK-1	brain:	n/a	n/a
6	CTCF	chr10:116581265-116581656	Gliobla	brain:	n/a	chr10:116581357-116581370 chr10:116581354-116581372
7	RAD21	chr10:116581188-116581585	HepG2	liver:	n/a	chr10:116581360-116581372 chr10:116581355-116581374
8	CTCF	chr10:116581400-116581550	NHLF	lung:	n/a	n/a
9	UBTF	chr10:116581327-116582529	K562	blood:	n/a	n/a
10	CTCF	chr10:116581262-116581688	GM12891	blood:	n/a	chr10:116581357-116581370 chr10:116581354-116581372
11	SMC3	chr10:116581213-116581672	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr10:116581178-116582104	HUVEC	blood vessel:	n/a	n/a
13	CTCF	chr10:116581214-116581559	K562	blood:	n/a	chr10:116581357-116581370 chr10:116581354-116581372
14	POLR2A	chr10:116581072-116581787	GM12891	blood:	n/a	n/a
15	CTCF	chr10:116581320-116581470	HMF	breast:	n/a	chr10:116581357-116581370 chr10:116581354-116581372
16	JUND	chr10:116581209-116581574	K562	blood:	n/a	n/a
17	MAX	chr10:116581105-116581911	GM12878	blood:	n/a	n/a
18	EBF1	chr10:116581268-116581428	GM12878	blood:	n/a	n/a
19	POLR2A	chr10:116581348-116582052	Raji	blood:	n/a	n/a
20	RAD21	chr10:116581270-116581593	A549	lung:	n/a	chr10:116581360-116581372 chr10:116581355-116581374
21	CHD2	chr10:116581215-116581806	Hela-S3	cervix:	n/a	chr10:116581716-116581726
22	POLR2A	chr10:116581195-116581729	Hela-S3	cervix:	n/a	n/a
23	EGR1	chr10:116581223-116581563	K562	blood:	n/a	chr10:116581423-116581437
24	CTCF	chr10:116581276-116581642	GM10248	blood:	n/a	chr10:116581357-116581370 chr10:116581354-116581372
25	POLR2A	chr10:116581280-116581992	A549	lung:	n/a	n/a
26	CTCF	chr10:116581331-116581633	Lung_OC	lung:	n/a	chr10:116581357-116581370 chr10:116581354-116581372
27	CTCF	chr10:116581317-116581649	Pancreas_OC	pancreas:	n/a	chr10:116581357-116581370 chr10:116581354-116581372
28	YY1	chr10:116581364-116581610	K562	blood:	n/a	n/a
29	CTCF	chr10:116581380-116581530	HAc	cerebellar:	n/a	n/a
30	POLR2A	chr10:116581009-116582855	HUVEC	blood vessel:	n/a	n/a
31	EGR1	chr10:116581167-116581622	ECC-1	luminal epithelium:	n/a	chr10:116581423-116581437
32	ZBTB7A	chr10:116581310-116581506	HepG2	liver:	n/a	n/a
33	PAX5	chr10:116581222-116581730	GM12892	blood:	n/a	n/a
34	POLR2A	chr10:116581313-116581622	U87	brain:	n/a	n/a
35	E2F6	chr10:116581267-116581549	K562	blood:	n/a	n/a
36	EP300	chr10:116581268-116581650	GM12878	blood:	n/a	chr10:116581569-116581578
37	MXI1	chr10:116580831-116581578	Hela-S3	cervix:	n/a	n/a
38	TAF1	chr10:116581191-116582392	ECC-1	luminal epithelium:	n/a	n/a
39	POLR2A	chr10:116581290-116581932	HepG2	liver:	n/a	n/a
40	BACH1	chr10:116581091-116581507	H1-hESC	embryonic stem cell:	n/a	n/a
41	RAD21	chr10:116581277-116581571	K562	blood:	n/a	chr10:116581360-116581372 chr10:116581355-116581374
42	USF1	chr10:116581133-116581535	SK-N-SH	brain:	n/a	n/a
43	POLR2A	chr10:116581164-116582526	GM18526	blood:	n/a	n/a
44	CTCF	chr10:116581400-116581550	HAc	cerebellar:	n/a	n/a
45	YY1	chr10:116581161-116582138	GM12892	blood:	n/a	chr10:116581770-116581779 chr10:116581771-116581782 chr10:116581749-116581763 chr10:116581752-116581763 chr10:116581922-116581931 chr10:116581773-116581782 chr10:116581972-116581986
46	CTCF	chr10:116581400-116581550	HCFaa	heart:	n/a	n/a
47	CTCF	chr10:116581320-116581470	HCM	heart:	n/a	chr10:116581357-116581370 chr10:116581354-116581372
48	CTCF	chr10:116581023-116581632	HCT-116	colon:	n/a	chr10:116581357-116581370 chr10:116581354-116581372 chr10:116581103-116581111
49	YY1	chr10:116581294-116581688	K562	blood:	n/a	n/a
50	ELF1	chr10:116581235-116581896	GM12878	blood:	n/a	chr10:116581773-116581782 chr10:116581765-116581777 chr10:116581771-116581783 chr10:116581770-116581779

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:116580811..116581705-chr8:27631902..27632494,2	Hela-S3	cervix:
2	chr10:116567584..116574580-chr10:116575101..116583231,11	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ABLIM1-1	chr10:116581032-116581425	NONHSAT016464

Variant related genes	Relation type
FAM160B1	TF binding region
ENSG00000215760	Chromatin interaction
ENSG00000171320	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949138	chr10:116311531-116874477	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1038050	chr10:116315109-116895719	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv533027	chr10:116344641-116856352	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	esv3435429	chr10:116394152-117006347	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	esv1814163	chr10:116519705-116582581	Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv518081	chr10:116576189-116582502	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv3338822	chr10:116579462-116583960	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv3407216	chr10:116580587-116583135	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	esv3343755	chr10:116580762-116583210	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:116579400-116583600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr10:116579800-116583600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr10:116580200-116582200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr10:116580600-116581600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr10:116580600-116582800	Active TSS	NHEK	skin
6	chr10:116580600-116583000	Active TSS	Placenta Amnion	Placenta Amnion
7	chr10:116580600-116583600	Active TSS	GM12878-XiMat	blood
8	chr10:116580600-116583800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr10:116580600-116584600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr10:116580800-116582800	Active TSS	Hela-S3	cervix
11	chr10:116580800-116583000	Active TSS	Brain Angular Gyrus	brain
12	chr10:116580800-116583200	Active TSS	A549	lung
13	chr10:116580800-116583400	Active TSS	NH-A	brain
14	chr10:116580800-116584200	Active TSS	NHLF	lung
15	chr10:116580800-116584600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr10:116581000-116581600	Active TSS	Brain Germinal Matrix	brain
17	chr10:116581000-116581800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr10:116581000-116582200	Active TSS	Primary T cells fromperipheralblood	blood
19	chr10:116581000-116582400	Active TSS	Primary T helper naive cells from peripheral blood	blood
20	chr10:116581000-116582400	Active TSS	Rectal Mucosa Donor 31	rectum
21	chr10:116581000-116582400	Active TSS	HepG2	liver
22	chr10:116581000-116582600	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr10:116581000-116582600	Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr10:116581000-116582600	Active TSS	Primary T cells from cord blood	blood
25	chr10:116581000-116582600	Active TSS	Brain Anterior Caudate	brain
26	chr10:116581000-116582800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr10:116581000-116582800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr10:116581000-116582800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr10:116581000-116582800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
30	chr10:116581000-116582800	Active TSS	Fetal Brain Female	brain
31	chr10:116581000-116582800	Active TSS	Fetal Kidney	kidney
32	chr10:116581000-116583000	Active TSS	H1 Cell Line	embryonic stem cell
33	chr10:116581000-116583000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr10:116581000-116583000	Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr10:116581000-116583000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
36	chr10:116581000-116583000	Active TSS	Brain Cingulate Gyrus	brain
37	chr10:116581000-116583000	Active TSS	Brain Hippocampus Middle	brain
38	chr10:116581000-116583000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr10:116581000-116583000	Active TSS	Brain Substantia Nigra	brain
40	chr10:116581000-116583000	Active TSS	Colon Smooth Muscle	Colon
41	chr10:116581000-116583000	Active TSS	Placenta	Placenta
42	chr10:116581000-116583000	Active TSS	Rectal Smooth Muscle	rectum
43	chr10:116581000-116583000	Active TSS	K562	blood
44	chr10:116581000-116583200	Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr10:116581000-116583200	Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr10:116581000-116583200	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr10:116581000-116583200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr10:116581000-116583200	Active TSS	Duodenum Mucosa	Duodenum
49	chr10:116581000-116583200	Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr10:116581000-116583200	Active TSS	Fetal Intestine Large	intestine

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