Variant report

Variant	rs11188502
Chromosome Location	chr10:97601370-97601371
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	PML	chr10:97601251-97602058	GM12878	blood:	n/a	n/a
2	SPI1	chr10:97601353-97601737	GM12878	blood:	n/a	chr10:97601585-97601598
3	NFIC	chr10:97601055-97602087	GM12878	blood:	n/a	n/a
4	NFATC1	chr10:97601192-97602054	GM12878	blood:	n/a	n/a
5	BCLAF1	chr10:97601344-97602007	GM12878	blood:	n/a	n/a
6	MTA3	chr10:97601326-97602012	GM12878	blood:	n/a	n/a
7	ZNF384	chr10:97601245-97602019	GM12878	blood:	n/a	n/a
8	GATA1	chr10:97601312-97602050	PBDE	blood:	n/a	n/a
9	ATF2	chr10:97601249-97602077	GM12878	blood:	n/a	n/a
10	SPI1	chr10:97601342-97601916	HL-60	blood:	n/a	chr10:97601585-97601598
11	SPI1	chr10:97601262-97601900	GM12878	blood:	n/a	chr10:97601585-97601598
12	POLR2A	chr10:97601352-97601657	GM12891	blood:	n/a	n/a
13	NFATC1	chr10:97601239-97602073	GM12878	blood:	n/a	n/a
14	NFIC	chr10:97601025-97602050	GM12878	blood:	n/a	n/a
15	FOXM1	chr10:97601336-97602065	GM12878	blood:	n/a	n/a
16	RUNX3	chr10:97601339-97602031	GM12878	blood:	n/a	n/a
17	IKZF1	chr10:97601339-97601867	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:97453647..97454478-chr10:97601201..97602348,10	MCF-7	breast:
2	chr10:97453473..97454491-chr10:97600756..97602502,23	MCF-7	breast:
3	chr10:97453502..97454417-chr10:97601367..97602301,5	K562	blood:

Variant related genes	Relation type
ENTPD1	TF binding region
ENSG00000119977	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10882654	1.00[JPT][hapmap]
rs11188412	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs11188415	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs11188419	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs11188423	1.00[JPT][hapmap]
rs11188424	0.83[EUR][1000 genomes]
rs11188431	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11188433	1.00[JPT][hapmap]
rs11188448	0.85[EUR][1000 genomes]
rs11188450	0.85[EUR][1000 genomes]
rs11188451	0.85[EUR][1000 genomes]
rs11188461	0.90[EUR][1000 genomes]
rs11188466	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11188467	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11188469	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11188475	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11188479	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11188481	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11188491	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11188508	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11553577	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs12355114	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12357211	0.80[EUR][1000 genomes]
rs12358517	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12784530	1.00[JPT][hapmap]
rs2275760	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2282305	1.00[JPT][hapmap]
rs3176882	0.85[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3181121	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3818833	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs41291576	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4420188	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4512762	0.87[ASN][1000 genomes]
rs56747025	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs57456033	0.87[AMR][1000 genomes]
rs58169787	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59502315	0.93[ASN][1000 genomes]
rs60144080	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61503377	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61731067	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7070507	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7073937	1.00[JPT][hapmap]
rs7090630	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7093453	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7100644	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73315224	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73315254	0.93[ASN][1000 genomes]
rs73315260	0.97[ASN][1000 genomes]
rs73315285	0.87[ASN][1000 genomes]
rs73317145	0.87[ASN][1000 genomes]
rs73329287	0.85[EUR][1000 genomes]
rs73331134	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73333021	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7898422	0.97[ASN][1000 genomes]
rs7913155	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531923	chr10:97366055-97725757	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv895905	chr10:97513362-97686064	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv895906	chr10:97513362-97703650	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv895907	chr10:97529318-97686064	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv895908	chr10:97544513-97724247	Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:97578600-97604400	Weak transcription	Aorta	Aorta
2	chr10:97581200-97602000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr10:97592000-97602200	Enhancers	Primary B cells from cord blood	blood
4	chr10:97592000-97607200	Weak transcription	Left Ventricle	heart
5	chr10:97592600-97632800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr10:97593000-97601400	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr10:97594200-97601400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr10:97594200-97602200	Enhancers	Primary B cells from peripheral blood	blood
9	chr10:97597200-97601600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr10:97597200-97627200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr10:97597400-97601400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr10:97597400-97601400	Weak transcription	Brain Substantia Nigra	brain
13	chr10:97597400-97602600	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr10:97597400-97604600	Weak transcription	Lung	lung
15	chr10:97597400-97624600	Weak transcription	Placenta	Placenta
16	chr10:97597400-97627400	Weak transcription	Brain Angular Gyrus	brain
17	chr10:97597600-97601400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr10:97597600-97609600	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr10:97597600-97620600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr10:97597800-97601400	Weak transcription	Fetal Stomach	stomach
21	chr10:97597800-97601400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr10:97598200-97601400	Weak transcription	Colon Smooth Muscle	Colon
23	chr10:97598200-97602600	Weak transcription	Stomach Smooth Muscle	stomach
24	chr10:97598400-97601400	Genic enhancers	Monocytes-CD14+_RO01746	blood
25	chr10:97600000-97601600	Enhancers	Fetal Intestine Small	intestine
26	chr10:97600000-97601800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr10:97600200-97601400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr10:97600200-97602400	Genic enhancers	Primary monocytes fromperipheralblood	blood
29	chr10:97600400-97601400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr10:97600400-97601400	Weak transcription	Rectal Smooth Muscle	rectum
31	chr10:97600600-97601400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr10:97600600-97602000	Enhancers	Fetal Lung	lung
33	chr10:97600600-97628600	Weak transcription	Colonic Mucosa	Colon
34	chr10:97600800-97601600	Weak transcription	HepG2	liver
35	chr10:97601000-97601400	Weak transcription	Duodenum Mucosa	Duodenum
36	chr10:97601000-97601400	Weak transcription	Fetal Intestine Large	intestine
37	chr10:97601000-97601600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr10:97601000-97601600	Enhancers	Spleen	Spleen
39	chr10:97601000-97601800	Enhancers	Primary hematopoietic stem cells	blood
40	chr10:97601200-97601400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr10:97601200-97601400	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr10:97601200-97601600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr10:97601200-97601600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr10:97601200-97601600	Active TSS	Fetal Brain Male	brain
45	chr10:97601200-97601600	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
46	chr10:97601200-97601800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr10:97601200-97601800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
48	chr10:97601200-97601800	Enhancers	Brain Anterior Caudate	brain
49	chr10:97601200-97601800	Enhancers	Brain Hippocampus Middle	brain
50	chr10:97601200-97601800	Enhancers	HUVEC	blood vessel

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