Variant report

Variant	rs9804209
Chromosome Location	chr10:43636181-43636182
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	RCOR1	chr10:43635852-43636617	GM12878	blood:	n/a	n/a
2	POLR2A	chr10:43635661-43636249	HUVEC	blood vessel:	n/a	n/a
3	FOXA1	chr10:43635745-43636218	HepG2	liver:	n/a	chr10:43635981-43635993
4	FOS	chr10:43635672-43636281	MCF10A-Er-Src	breast:	n/a	n/a
5	EBF1	chr10:43636017-43636350	GM12878	blood:	n/a	n/a
6	STAT3	chr10:43635810-43636259	MCF10A-Er-Src	breast:	n/a	chr10:43636068-43636076 chr10:43636089-43636112
7	MXI1	chr10:43635920-43636319	GM12878	blood:	n/a	n/a
8	MYC	chr10:43635798-43636297	MCF10A-Er-Src	breast:	n/a	n/a
9	BHLHE40	chr10:43636018-43636232	HepG2	liver:	n/a	n/a
10	FOXA1	chr10:43635746-43636228	HepG2	liver:	n/a	chr10:43635981-43635993
11	STAT1	chr10:43635993-43636193	GM12878	blood:	n/a	chr10:43636068-43636076 chr10:43636089-43636112
12	STAT3	chr10:43635901-43636411	GM12878	blood:	n/a	chr10:43636068-43636076 chr10:43636089-43636112
13	FOSL2	chr10:43635639-43636280	A549	lung:	n/a	n/a
14	SP1	chr10:43635694-43636251	A549	lung:	n/a	n/a
15	SPI1	chr10:43635932-43636308	GM12891	blood:	n/a	chr10:43636094-43636103
16	BHLHE40	chr10:43635878-43636421	GM12878	blood:	n/a	n/a
17	STAT3	chr10:43635750-43636501	MCF10A-Er-Src	breast:	n/a	chr10:43636068-43636076 chr10:43636089-43636112
18	FOXA2	chr10:43635705-43636237	A549	lung:	n/a	chr10:43635981-43635993
19	CHD2	chr10:43635886-43636299	GM12878	blood:	n/a	n/a
20	TBP	chr10:43635864-43636384	GM12878	blood:	n/a	n/a
21	TCF12	chr10:43635685-43636311	A549	lung:	n/a	n/a
22	PBX3	chr10:43635828-43636247	SK-N-SH	brain:	n/a	n/a
23	SIN3AK20	chr10:43635689-43636233	MCF-7	breast:	n/a	n/a
24	CEBPB	chr10:43635852-43636207	MCF-7	breast:	n/a	n/a
25	CEBPB	chr10:43635712-43636347	A549	lung:	n/a	n/a
26	FOS	chr10:43635625-43636316	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr10:43635600-43636481	HUVEC	blood vessel:	n/a	n/a
28	SPI1	chr10:43635918-43636215	GM12878	blood:	n/a	chr10:43636094-43636103
29	SPI1	chr10:43635927-43636195	GM12891	blood:	n/a	chr10:43636094-43636103
30	STAT3	chr10:43635845-43636253	MCF10A-Er-Src	breast:	n/a	chr10:43636068-43636076 chr10:43636089-43636112
31	EP300	chr10:43635861-43636395	GM12878	blood:	n/a	chr10:43636089-43636103
32	CEBPB	chr10:43635860-43636203	A549	lung:	n/a	n/a
33	MYC	chr10:43636025-43636259	NB4	blood:	n/a	n/a
34	STAT3	chr10:43635833-43636252	MCF10A-Er-Src	breast:	n/a	chr10:43636068-43636076 chr10:43636089-43636112
35	FOS	chr10:43635674-43636269	MCF10A-Er-Src	breast:	n/a	n/a
36	ARID3A	chr10:43636176-43636244	K562	blood:	n/a	n/a
37	RUNX3	chr10:43635829-43636300	GM12878	blood:	n/a	n/a
38	BATF	chr10:43635866-43636221	GM12878	blood:	n/a	n/a
39	MAX	chr10:43635854-43636194	NB4	blood:	n/a	n/a
40	EP300	chr10:43635845-43636365	GM12878	blood:	n/a	chr10:43636089-43636103
41	EP300	chr10:43635827-43636243	HepG2	liver:	n/a	chr10:43636089-43636103
42	ARID3A	chr10:43635813-43636289	HepG2	liver:	n/a	n/a
43	CEBPB	chr10:43635790-43636284	IMR90	lung:	n/a	n/a
44	EP300	chr10:43635695-43636314	GM12878	blood:	n/a	chr10:43636089-43636103
45	TBL1XR1	chr10:43635933-43636300	GM12878	blood:	n/a	n/a
46	CHD1	chr10:43635668-43636355	GM12878	blood:	n/a	n/a
47	RUNX3	chr10:43635847-43636346	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:43634643..43637619-chr10:43638128..43641213,3	K562	blood:

Variant related genes	Relation type
ENSG00000273008	TF binding region

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10159558	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11238441	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11238465	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12258585	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12260994	0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12262152	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12765436	0.82[ASN][1000 genomes]
rs12765715	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12765838	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12766298	0.82[ASN][1000 genomes]
rs12775330	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12775743	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12779732	0.82[ASN][1000 genomes]
rs17363630	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1799939	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1800863	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1864393	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1879299	0.82[AMR][1000 genomes]
rs2075911	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28401552	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2900627	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3026776	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3026779	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3026781	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3026782	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34817887	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4987091	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7074319	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7086299	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7092548	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7096367	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71505665	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71505667	0.82[ASN][1000 genomes]
rs71505668	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs72783237	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs72783242	0.82[ASN][1000 genomes]
rs7893332	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7903283	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7910648	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7910805	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7921281	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7923256	0.88[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534548	chr10:42890664-43729688	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv430159	chr10:43291894-43946294	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv1038102	chr10:43441601-43642908	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv895082	chr10:43530071-43755506	Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv895083	chr10:43549708-43765485	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv1051701	chr10:43555542-43642895	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv1046892	chr10:43609488-43636278	Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
8	nsv916378	chr10:43622151-43868356	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	nsv1042310	chr10:43623060-43688505	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
10	nsv1043661	chr10:43626619-43890162	Bivalent Enhancer Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
11	nsv540574	chr10:43626619-43890162	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43632600-43636200	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr10:43632800-43636200	Active TSS	Muscle Satellite Cultured Cells	--
3	chr10:43632800-43636200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr10:43632800-43636400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr10:43634400-43636600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr10:43634400-43636600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr10:43634600-43636600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
8	chr10:43634600-43636800	Enhancers	Small Intestine	intestine
9	chr10:43634600-43637200	Weak transcription	Spleen	Spleen
10	chr10:43634600-43637800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr10:43634800-43636400	Enhancers	Hela-S3	cervix
12	chr10:43634800-43636600	Flanking Active TSS	Primary T cells from cord blood	blood
13	chr10:43634800-43636600	Flanking Active TSS	Dnd41	blood
14	chr10:43634800-43641000	Weak transcription	Stomach Mucosa	stomach
15	chr10:43634800-43646800	Weak transcription	Left Ventricle	heart
16	chr10:43634800-43652200	Weak transcription	Gastric	stomach
17	chr10:43635000-43636400	Enhancers	Fetal Lung	lung
18	chr10:43635000-43636400	Flanking Active TSS	NHDF-Ad	bronchial
19	chr10:43635000-43636600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr10:43635000-43636600	Flanking Active TSS	GM12878-XiMat	blood
21	chr10:43635000-43637600	Enhancers	Primary B cells from peripheral blood	blood
22	chr10:43635000-43638000	Enhancers	Primary T cells fromperipheralblood	blood
23	chr10:43635000-43639000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr10:43635000-43639600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr10:43635000-43641600	Weak transcription	Psoas Muscle	Psoas
26	chr10:43635200-43636200	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr10:43635200-43636200	Enhancers	Brain Angular Gyrus	brain
28	chr10:43635200-43636400	Enhancers	Fetal Stomach	stomach
29	chr10:43635200-43636600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr10:43635200-43637400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr10:43635200-43637400	Enhancers	Duodenum Mucosa	Duodenum
32	chr10:43635200-43638800	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr10:43635200-43641800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr10:43635400-43636400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr10:43635400-43636400	Enhancers	Fetal Brain Male	brain
36	chr10:43635400-43636400	Enhancers	NHEK	skin
37	chr10:43635400-43636600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr10:43635400-43637400	Enhancers	HMEC	breast
39	chr10:43635400-43638400	Weak transcription	Colon Smooth Muscle	Colon
40	chr10:43635400-43639200	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr10:43635400-43639600	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr10:43635400-43641200	Weak transcription	Brain Substantia Nigra	brain
43	chr10:43635400-43642400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr10:43635400-43644200	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr10:43635400-43655600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr10:43635600-43636200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr10:43635600-43636400	Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr10:43635600-43636400	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr10:43635600-43636600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr10:43635600-43636600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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