Variant report

Variant	rs7087885
Chromosome Location	chr10:49864618-49864619
allele	A/G
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	CTCF	chr10:49864301-49864618	GM20000	blood:	n/a	chr10:49864472-49864485 chr10:49864472-49864485 chr10:49864473-49864483 chr10:49864476-49864485 chr10:49864470-49864488 chr10:49864471-49864487 chr10:49864404-49864422
2	PAX5	chr10:49864219-49864644	GM12892	blood:	n/a	chr10:49864227-49864246 chr10:49864226-49864244
3	GABPA	chr10:49864269-49864727	K562	blood:	n/a	n/a
4	POLR2A	chr10:49863949-49864690	HUVEC	blood vessel:	n/a	n/a
5	RUNX3	chr10:49864243-49864721	GM12878	blood:	n/a	n/a
6	SMC3	chr10:49864175-49864740	GM12878	blood:	n/a	chr10:49864343-49864353 chr10:49864472-49864482 chr10:49864472-49864486
7	JUND	chr10:49864334-49864862	H1-hESC	embryonic stem cell:	n/a	n/a
8	RAD21	chr10:49864182-49864681	GM12878	blood:	n/a	chr10:49864471-49864484 chr10:49864454-49864467 chr10:49864406-49864416 chr10:49864470-49864482 chr10:49864472-49864482 chr10:49864468-49864487
9	POLR2A	chr10:49864125-49864724	HCT-116	colon:	n/a	n/a
10	HMGN3	chr10:49863654-49864651	K562	blood:	n/a	chr10:49863685-49863694
11	POLR2A	chr10:49864317-49864625	H1-hESC	embryonic stem cell:	n/a	n/a
12	JUN	chr10:49864508-49864781	H1-hESC	embryonic stem cell:	n/a	n/a
13	EP300	chr10:49864420-49864664	HepG2	liver:	n/a	chr10:49864470-49864479 chr10:49864470-49864486
14	YY1	chr10:49864192-49864719	GM12878	blood:	n/a	chr10:49864440-49864449
15	CEBPB	chr10:49864360-49864740	A549	lung:	n/a	n/a
16	ELF1	chr10:49864229-49864740	HepG2	liver:	n/a	chr10:49864440-49864449 chr10:49864542-49864551 chr10:49864448-49864461 chr10:49864238-49864250
17	RCOR1	chr10:49864228-49864750	K562	blood:	n/a	n/a
18	CTCF	chr10:49864291-49864625	H1-hESC	embryonic stem cell:	n/a	chr10:49864472-49864485 chr10:49864472-49864485 chr10:49864473-49864483 chr10:49864476-49864485 chr10:49864470-49864488 chr10:49864471-49864487 chr10:49864404-49864422
19	CTCF	chr10:49864282-49864641	Fibrobl	skin:	n/a	chr10:49864472-49864485 chr10:49864472-49864485 chr10:49864473-49864483 chr10:49864476-49864485 chr10:49864470-49864488 chr10:49864471-49864487 chr10:49864404-49864422
20	ELF1	chr10:49864123-49864796	GM12878	blood:	n/a	chr10:49864440-49864449 chr10:49864542-49864551 chr10:49864448-49864461 chr10:49864238-49864250
21	RAD21	chr10:49863121-49865128	SK-N-SH	brain:	n/a	chr10:49864471-49864484 chr10:49864454-49864467 chr10:49864406-49864416 chr10:49864470-49864482 chr10:49864472-49864482 chr10:49864108-49864121 chr10:49863692-49863706 chr10:49863461-49863475 chr10:49864468-49864487
22	JUN	chr10:49864118-49865333	K562	blood:	n/a	chr10:49865132-49865143
23	MAX	chr10:49864223-49864705	K562	blood:	n/a	n/a
24	JUND	chr10:49864187-49864747	A549	lung:	n/a	n/a
25	CTCFL	chr10:49864151-49864625	K562	blood:	n/a	chr10:49864472-49864481
26	RCOR1	chr10:49864136-49864738	GM12878	blood:	n/a	n/a
27	CTCF	chr10:49864302-49864635	MCF-7	breast:	n/a	chr10:49864472-49864485 chr10:49864472-49864485 chr10:49864473-49864483 chr10:49864476-49864485 chr10:49864470-49864488 chr10:49864471-49864487 chr10:49864404-49864422
28	POLR2A	chr10:49864202-49864777	HCT-116	colon:	n/a	n/a
29	MAX	chr10:49863388-49864788	A549	lung:	n/a	chr10:49863987-49863997 chr10:49863989-49863996 chr10:49863988-49863997 chr10:49863984-49863999 chr10:49863988-49863997 chr10:49863684-49863693 chr10:49863987-49863998
30	POLR2A	chr10:49864090-49864743	SK-N-SH	brain:	n/a	n/a
31	CHD2	chr10:49864320-49864934	H1-hESC	embryonic stem cell:	n/a	n/a
32	ZBTB33	chr10:49864212-49864618	HCT-116	colon:	n/a	n/a
33	GABPA	chr10:49864276-49864870	A549	lung:	n/a	n/a
34	CTCF	chr10:49864031-49864876	GM12878	blood:	n/a	chr10:49864472-49864485 chr10:49864472-49864485 chr10:49864473-49864483 chr10:49864476-49864485 chr10:49864470-49864488 chr10:49864471-49864487 chr10:49864404-49864422
35	RELA	chr10:49864279-49864821	GM18951	blood:	n/a	n/a
36	RAD21	chr10:49864003-49864869	HCT-116	colon:	n/a	chr10:49864471-49864484 chr10:49864454-49864467 chr10:49864406-49864416 chr10:49864470-49864482 chr10:49864472-49864482 chr10:49864108-49864121 chr10:49864468-49864487
37	CTCF	chr10:49864270-49864645	GM19240	blood:	n/a	chr10:49864472-49864485 chr10:49864472-49864485 chr10:49864473-49864483 chr10:49864476-49864485 chr10:49864470-49864488 chr10:49864471-49864487 chr10:49864404-49864422
38	MAX	chr10:49863351-49864919	HCT-116	colon:	n/a	chr10:49863987-49863997 chr10:49863989-49863996 chr10:49863988-49863997 chr10:49863984-49863999 chr10:49863988-49863997 chr10:49863684-49863693 chr10:49863987-49863998
39	TRIM28	chr10:49864234-49864721	K562	blood:	n/a	n/a
40	STAT3	chr10:49864458-49864658	MCF10A-Er-Src	breast:	n/a	n/a
41	CEBPB	chr10:49864347-49864765	ECC-1	luminal epithelium:	n/a	n/a
42	FOXM1	chr10:49864210-49864672	GM12878	blood:	n/a	n/a
43	TCF12	chr10:49863547-49864768	ECC-1	luminal epithelium:	n/a	n/a
44	CBX3	chr10:49864215-49864763	K562	blood:	n/a	n/a
45	TCF12	chr10:49863121-49864869	SK-N-SH	brain:	n/a	n/a
46	STAT5A	chr10:49864218-49864701	K562	blood:	n/a	chr10:49864449-49864456
47	ELF1	chr10:49864220-49864744	K562	blood:	n/a	chr10:49864440-49864449 chr10:49864542-49864551 chr10:49864448-49864461 chr10:49864238-49864250
48	GABPA	chr10:49864198-49864619	HepG2	liver:	n/a	n/a
49	RAD21	chr10:49864276-49864747	ECC-1	luminal epithelium:	n/a	chr10:49864471-49864484 chr10:49864454-49864467 chr10:49864406-49864416 chr10:49864470-49864482 chr10:49864472-49864482 chr10:49864468-49864487
50	USF2	chr10:49864414-49864713	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:49864600-49864650	HRE	kidney:	n/a
2	chr10:49864600-49864650	AG10803	skin:	n/a
3	chr10:49864600-49864650	SKMC	muscle:	n/a
4	chr10:49864600-49864650	SK-N-MC	brain:	n/a
5	chr10:49864600-49864650	PrEC	prostate:	n/a
6	chr10:49864600-49864650	HEEpiC	esophagus:	n/a
7	chr10:49864600-49864650	HIPEpiC	eye:	n/a
8	chr10:49864600-49864650	NHBE	bronchial:	n/a
9	chr10:49864600-49864650	K562	blood:	n/a
10	chr10:49864600-49864650	H1-hESC	embryonic stem cell:	embryo
11	chr10:49864600-49864650	AG04450	lung:	fetal
12	chr10:49864600-49864650	RPTEC	kidney:	n/a
13	chr10:49864600-49864650	IMR90	lung:	fetal
14	chr10:49864600-49864650	NT2-D1	testis:	n/a
15	chr10:49864600-49864650	U87	brain:	n/a
16	chr10:49864600-49864650	GM12891	blood:	n/a
17	chr10:49864600-49864650	HEK293	kidney:	embryo
18	chr10:49864600-49864650	CMK	blood:	n/a
19	chr10:49864600-49864650	Hela-S3	cervix:	n/a
20	chr10:49864600-49864650	HCPEpiC	choroid plexus:	n/a
21	chr10:49864600-49864650	PFSK-1	brain:	n/a
22	chr10:49864600-49864650	Jurkat	blood:	n/a
23	chr10:49864600-49864650	GM12892	blood:	n/a
24	chr10:49864600-49864650	HCT-116	colon:	n/a
25	chr10:49864600-49864650	AG04449	skin:	fetal
26	chr10:49864600-49864650	HMEC	breast:	n/a
27	chr10:49864600-49864650	HRPEpiC	eye:	n/a
28	chr10:49864600-49864650	NHDF-neo	bronchial:	n/a
29	chr10:49864600-49864650	BE2_C	brain:	n/a
30	chr10:49864600-49864650	SK-N-SH	brain:	n/a
31	chr10:49864600-49864650	MCF10A-Er-Src	breast:	n/a
32	chr10:49864600-49864650	Caco-2	colon:	n/a
33	chr10:49864600-49864650	HL-60	blood:	n/a
34	chr10:49864600-49864650	GM19239	blood:	n/a
35	chr10:49864600-49864650	HNPCEpiC	eye:	n/a
36	chr10:49864600-49864650	HPAEpiC	pulmonary alveolar:	n/a
37	chr10:49864600-49864650	AG09319	gingival:	n/a
38	chr10:49864600-49864650	AG09309	skin:	n/a
39	chr10:49864600-49864650	NB4	blood:	n/a
40	chr10:49864600-49864650	NH-A	brain:	n/a
41	chr10:49864600-49864650	GM12878	blood:	n/a
42	chr10:49864600-49864650	ECC-1	luminal epithelium:	n/a
43	chr10:49864600-49864650	HCF	heart:	n/a
44	chr10:49864600-49864650	ProgFib	skin:	n/a
45	chr10:49864600-49864650	GM06990	blood:	n/a
46	chr10:49864600-49864650	SAEC	small airway:	n/a
47	chr10:49864600-49864650	Hepatocyte	liver:	n/a
48	chr10:49864600-49864650	HRCEpiC	kidney:	n/a
49	chr10:49864600-49864650	AoSMC	blood vessel:	n/a
50	chr10:49864600-49864650	HepG2	liver:	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:49731096..49734201-chr10:49864172..49866367,3	K562	blood:
2	chr10:49863839..49866724-chr10:50507173..50508742,2	K562	blood:
3	chr10:49812859..49813605-chr10:49864444..49864969,2	K562	blood:
4	chr10:49714827..49719872-chr10:49861427..49864767,4	K562	blood:

Variant related genes	Relation type
ARHGAP22	TF binding region
ARHGAP22	CpG island
ENSG00000248682	Chromatin interaction
ENSG00000177354	Chromatin interaction
ENSG00000128805	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10857616	0.88[ASN][1000 genomes]
rs11101416	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12257645	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2377595	0.91[ASN][1000 genomes]
rs2377596	0.90[ASN][1000 genomes]
rs2377612	0.96[ASN][1000 genomes]
rs2377613	0.96[ASN][1000 genomes]
rs2377614	0.96[ASN][1000 genomes]
rs2377615	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2377616	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2377618	0.81[EUR][1000 genomes]
rs4240515	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4373841	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4375365	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4525142	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4562728	0.93[ASN][1000 genomes]
rs7087882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7911516	0.81[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv895372	chr10:49576878-49933488	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 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	chr10:49863200-49864800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr10:49863200-49865000	Active TSS	H9 Cell Line	embryonic stem cell
3	chr10:49863200-49865200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr10:49863400-49864800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
5	chr10:49863400-49864800	Active TSS	A549	lung
6	chr10:49863400-49865000	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr10:49863400-49865400	Enhancers	Fetal Heart	heart
8	chr10:49863600-49865000	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr10:49863600-49865000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr10:49863600-49865000	Active TSS	HSMMtube	muscle
11	chr10:49863800-49864800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr10:49863800-49864800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr10:49863800-49864800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr10:49863800-49864800	Active TSS	Aorta	Aorta
15	chr10:49863800-49865000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
16	chr10:49863800-49865200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr10:49864000-49864800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr10:49864000-49864800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr10:49864000-49864800	Active TSS	Primary T cells from cord blood	blood
20	chr10:49864000-49864800	Active TSS	Gastric	stomach
21	chr10:49864000-49864800	Active TSS	Left Ventricle	heart
22	chr10:49864000-49864800	Active TSS	NHDF-Ad	bronchial
23	chr10:49864000-49865000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr10:49864000-49865000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr10:49864000-49865000	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr10:49864000-49865000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr10:49864000-49865000	Active TSS	Thymus	Thymus
28	chr10:49864000-49865200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
29	chr10:49864000-49865200	Bivalent Enhancer	Placenta	Placenta
30	chr10:49864000-49865200	Enhancers	Spleen	Spleen
31	chr10:49864200-49864800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr10:49864200-49864800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr10:49864200-49864800	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr10:49864200-49864800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
35	chr10:49864200-49864800	Transcr. at gene 5' and 3'	Right Atrium	heart
36	chr10:49864200-49865000	Enhancers	Lung	lung
37	chr10:49864400-49865000	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr10:49864400-49865000	Bivalent/Poised TSS	Fetal Kidney	kidney
39	chr10:49864400-49865200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr10:49864400-49865200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
41	chr10:49864600-49864800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
42	chr10:49864600-49864800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr10:49864600-49864800	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr10:49864600-49864800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
45	chr10:49864600-49864800	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
46	chr10:49864600-49864800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr10:49864600-49864800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
48	chr10:49864600-49864800	Flanking Active TSS	Colonic Mucosa	Colon
49	chr10:49864600-49864800	Flanking Active TSS	Colon Smooth Muscle	Colon
50	chr10:49864600-49864800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum

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