Variant report

Variant	rs12570382
Chromosome Location	chr10:52346216-52346217
allele	G/T
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	TEAD4	chr10:52346148-52346729	K562	blood:	n/a	n/a
2	CBX3	chr10:52345999-52346700	HCT-116	colon:	n/a	n/a
3	FOSL1	chr10:52346038-52346758	HCT-116	colon:	n/a	chr10:52346425-52346434 chr10:52346424-52346435 chr10:52346426-52346435
4	CEBPB	chr10:52346207-52346689	K562	blood:	n/a	n/a
5	ZC3H11A	chr10:52345660-52346523	K562	blood:	n/a	n/a
6	MYC	chr10:52346072-52346839	K562	blood:	n/a	n/a
7	MYC	chr10:52346176-52346672	Hela-S3	cervix:	n/a	n/a
8	NR3C1	chr10:52346191-52346653	A549	lung:	n/a	chr10:52346425-52346434 chr10:52346458-52346473 chr10:52346426-52346435
9	FOSL1	chr10:52346171-52346611	K562	blood:	n/a	chr10:52346425-52346434 chr10:52346424-52346435 chr10:52346426-52346435
10	FOS	chr10:52346191-52346619	K562	blood:	n/a	chr10:52346425-52346434 chr10:52346424-52346435 chr10:52346426-52346435
11	RFX5	chr10:52346208-52346718	Hela-S3	cervix:	n/a	n/a
12	CHD2	chr10:52346150-52346622	Hela-S3	cervix:	n/a	n/a
13	JUND	chr10:52346058-52346747	HCT-116	colon:	n/a	chr10:52346425-52346434 chr10:52346426-52346435
14	JUN	chr10:52346193-52346872	Hela-S3	cervix:	n/a	chr10:52346425-52346434 chr10:52346426-52346435
15	CUX1	chr10:52346041-52346915	K562	blood:	n/a	n/a
16	MAFK	chr10:52346163-52346744	K562	blood:	n/a	n/a
17	SP1	chr10:52346195-52346566	A549	lung:	n/a	n/a
18	STAT3	chr10:52346190-52346619	Hela-S3	cervix:	n/a	chr10:52346522-52346530 chr10:52346565-52346572
19	JUN	chr10:52345182-52347030	K562	blood:	n/a	chr10:52346425-52346434 chr10:52346426-52346435
20	ZMIZ1	chr10:52346037-52346676	K562	blood:	n/a	n/a
21	CBX3	chr10:52345962-52346743	HCT-116	colon:	n/a	n/a
22	ATF1	chr10:52346212-52346616	K562	blood:	n/a	n/a
23	JUND	chr10:52346041-52346665	K562	blood:	n/a	chr10:52346425-52346434 chr10:52346426-52346435
24	CEBPB	chr10:52346020-52346901	HCT-116	colon:	n/a	n/a
25	FOSL2	chr10:52346194-52346611	A549	lung:	n/a	chr10:52346425-52346434 chr10:52346426-52346435
26	MXI1	chr10:52345927-52346669	IMR90	lung:	n/a	n/a
27	MAX	chr10:52346163-52346556	A549	lung:	n/a	n/a
28	POLR2A	chr10:52346192-52346683	HCT-116	colon:	n/a	n/a
29	JUND	chr10:52346171-52347025	Hela-S3	cervix:	n/a	chr10:52346425-52346434 chr10:52346426-52346435
30	MAZ	chr10:52346168-52346624	K562	blood:	n/a	n/a
31	MAX	chr10:52346038-52346614	Hela-S3	cervix:	n/a	n/a
32	MAX	chr10:52345942-52346661	K562	blood:	n/a	n/a
33	CREB1	chr10:52346201-52346644	K562	blood:	n/a	n/a
34	MAX	chr10:52346000-52346807	HCT-116	colon:	n/a	n/a
35	FOSL1	chr10:52346086-52346727	HCT-116	colon:	n/a	chr10:52346425-52346434 chr10:52346424-52346435 chr10:52346426-52346435
36	JUN	chr10:52346071-52346630	K562	blood:	n/a	chr10:52346425-52346434 chr10:52346426-52346435
37	E2F6	chr10:52346149-52346460	K562	blood:	n/a	n/a
38	BRCA1	chr10:52346019-52346655	Hela-S3	cervix:	n/a	n/a
39	JUN	chr10:52346198-52346668	K562	blood:	n/a	chr10:52346425-52346434 chr10:52346426-52346435
40	CEBPB	chr10:52346067-52346806	HCT-116	colon:	n/a	n/a
41	BHLHE40	chr10:52345958-52346690	K562	blood:	n/a	n/a
42	CBX3	chr10:52346002-52346614	K562	blood:	n/a	n/a
43	SP1	chr10:52346186-52346842	HCT-116	colon:	n/a	n/a
44	JUND	chr10:52346106-52346785	HCT-116	colon:	n/a	chr10:52346425-52346434 chr10:52346426-52346435
45	MYC	chr10:52345924-52346647	K562	blood:	n/a	n/a
46	MAX	chr10:52346004-52346760	HCT-116	colon:	n/a	n/a
47	USF2	chr10:52346042-52346637	Hela-S3	cervix:	n/a	n/a
48	RCOR1	chr10:52346149-52346643	K562	blood:	n/a	n/a
49	MYC	chr10:52346100-52346616	MCF10A-Er-Src	breast:	n/a	n/a
50	SP1	chr10:52346017-52346825	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:52345136..52347979-chr10:52349121..52350897,2	MCF-7	breast:
2	chr10:52343887..52348125-chr10:52383719..52386062,5	K562	blood:
3	chr10:52346092..52348176-chr10:52375554..52378162,2	K562	blood:
4	chr10:52342227..52348125-chr10:52381237..52386507,8	K562	blood:
5	chr10:52346124..52348507-chr10:52350618..52352666,3	K562	blood:

Variant related genes	Relation type
RMRPP4	TF binding region
ENSG00000198964	Chromatin interaction
ENSG00000238523	Chromatin interaction
ENSG00000226200	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10508930	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10763550	0.87[YRI][hapmap]
rs12572387	0.87[YRI][hapmap]
rs7086540	0.85[YRI][hapmap]

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	nsv1054775	chr10:51595893-52392361	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1051087	chr10:51886486-52447295	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv916214	chr10:51886486-52458983	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv918212	chr10:51886486-52465482	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv817412	chr10:51911034-52432990	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv469522	chr10:52276564-52447589	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv482564	chr10:52276564-52447589	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv8660	chr10:52328259-52346278	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
9	nsv971909	chr10:52344351-52348873	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52322000-52348600	Weak transcription	Fetal Stomach	stomach
2	chr10:52336200-52349000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr10:52336400-52348600	Weak transcription	Lung	lung
4	chr10:52336800-52363000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr10:52337000-52348000	Weak transcription	Thymus	Thymus
6	chr10:52337800-52346400	Weak transcription	Spleen	Spleen
7	chr10:52337800-52347800	Weak transcription	Fetal Thymus	thymus
8	chr10:52337800-52352800	Weak transcription	Fetal Brain Male	brain
9	chr10:52338000-52356400	Weak transcription	Fetal Brain Female	brain
10	chr10:52338000-52363800	Weak transcription	Fetal Kidney	kidney
11	chr10:52338000-52367000	Weak transcription	Aorta	Aorta
12	chr10:52338200-52346400	Weak transcription	Adipose Nuclei	Adipose
13	chr10:52338200-52346400	Weak transcription	Osteobl	bone
14	chr10:52338200-52347600	Weak transcription	Fetal Muscle Leg	muscle
15	chr10:52338200-52347800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr10:52338200-52348800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr10:52338200-52353600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr10:52338200-52353800	Weak transcription	Stomach Smooth Muscle	stomach
19	chr10:52338400-52348000	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr10:52338600-52347600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr10:52338600-52353400	Weak transcription	Brain Germinal Matrix	brain
22	chr10:52338600-52353600	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr10:52338800-52347800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr10:52338800-52348000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr10:52340400-52360200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr10:52341000-52347600	Weak transcription	Fetal Lung	lung
27	chr10:52341000-52348000	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr10:52341200-52347400	Weak transcription	HepG2	liver
29	chr10:52341200-52347800	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr10:52341200-52348800	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr10:52341200-52373000	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr10:52341400-52347800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr10:52341400-52355400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr10:52341400-52360200	Weak transcription	GM12878-XiMat	blood
35	chr10:52341600-52347800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr10:52341600-52348600	Weak transcription	Fetal Intestine Small	intestine
37	chr10:52341800-52350600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr10:52341800-52351800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr10:52341800-52352800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr10:52341800-52355000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr10:52341800-52362000	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr10:52342000-52347600	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr10:52342000-52352000	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr10:52342200-52347600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr10:52342200-52351800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr10:52342400-52346400	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr10:52342400-52347800	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr10:52342400-52348000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr10:52342400-52351600	Weak transcription	Brain Angular Gyrus	brain
50	chr10:52342400-52353000	Weak transcription	Brain Cingulate Gyrus	brain

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