Variant report

Variant	rs1039210
Chromosome Location	chr11:9166835-9166836
allele	C/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	GATA3	chr11:9166314-9166913	SK-N-SH	brain:	n/a	chr11:9166819-9166827
2	GATA3	chr11:9166358-9166979	SK-N-SH	brain:	n/a	chr11:9166819-9166827
3	CTCF	chr11:9166763-9166856	GM19240	blood:	n/a	n/a
4	CTCF	chr11:9166760-9166910	WERI-Rb-1	eye:	n/a	n/a
5	CTCF	chr11:9166787-9166848	GM12878	blood:	n/a	n/a
6	CTCF	chr11:9166800-9166950	GM12864	blood:	n/a	n/a
7	CTCF	chr11:9166768-9166872	GM19238	blood:	n/a	n/a
8	CTCF	chr11:9166782-9166845	GM12892	blood:	n/a	n/a
9	GATA3	chr11:9166433-9166930	MCF-7	breast:	n/a	chr11:9166819-9166827

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:9166569..9169771-chr11:9171907..9174978,4	K562	blood:

Variant related genes	Relation type
DENND5A	TF binding region
ENSG00000184014	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10047438	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10769991	0.86[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10769992	0.84[CEU][hapmap];0.83[JPT][hapmap]
rs10769994	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10769995	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10769996	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10769997	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10769998	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10769999	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10770006	0.91[YRI][hapmap]
rs10770008	0.94[YRI][hapmap]
rs10770010	0.94[YRI][hapmap]
rs10840175	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10840176	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10840178	0.88[ASN][1000 genomes]
rs10840179	0.90[ASN][1000 genomes]
rs10840181	0.90[ASN][1000 genomes]
rs10840182	0.90[ASN][1000 genomes]
rs10840183	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10840185	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11042189	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11042195	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11042199	0.89[CHB][hapmap];0.83[JPT][hapmap];0.90[ASN][1000 genomes]
rs11042200	1.00[CEU][hapmap];0.89[CHB][hapmap];0.82[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11042211	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11604616	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12291375	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17256375	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1827011	0.80[CEU][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1874822	0.88[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1997628	0.87[ASN][1000 genomes]
rs2133217	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2291839	0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs2316087	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2647537	0.88[CEU][hapmap];0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs2742556	0.84[CEU][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2742557	0.81[ASN][1000 genomes]
rs4910035	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs5011703	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56077948	0.90[ASN][1000 genomes]
rs56216908	0.82[ASN][1000 genomes]
rs6486199	0.81[AMR][1000 genomes]
rs7109745	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7120239	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7121013	0.86[YRI][hapmap]
rs7123970	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7128469	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7394878	0.92[CEU][hapmap];1.00[CHB][hapmap];0.81[YRI][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7395151	0.96[CEU][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7395347	0.86[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7395846	0.92[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7396705	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7925308	0.88[CEU][hapmap];1.00[CHB][hapmap];0.84[YRI][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7925418	0.89[CHB][hapmap]
rs7930507	0.92[CEU][hapmap];1.00[CHB][hapmap];0.81[YRI][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7931872	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7947251	0.85[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9888257	0.86[CHB][hapmap];0.92[JPT][hapmap];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv33264	chr11:9007612-9311131	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1040049	chr11:9152536-9363488	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv526778	chr11:9159739-9185077	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9142600-9175000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:9151800-9175800	Strong transcription	Fetal Muscle Trunk	muscle
3	chr11:9152800-9175800	Strong transcription	Fetal Muscle Leg	muscle
4	chr11:9153000-9179800	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr11:9155000-9203400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:9156800-9167200	Strong transcription	Placenta	Placenta
7	chr11:9157000-9180000	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr11:9158000-9183200	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr11:9159000-9168000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr11:9159000-9169400	Strong transcription	Fetal Intestine Small	intestine
11	chr11:9159000-9170200	Genic enhancers	Brain Hippocampus Middle	brain
12	chr11:9159000-9175800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr11:9159400-9170200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr11:9159400-9174400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr11:9159600-9179400	Strong transcription	Primary T cells from cord blood	blood
16	chr11:9159800-9169200	Strong transcription	Right Ventricle	heart
17	chr11:9159800-9183400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr11:9160000-9174000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr11:9160000-9177200	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr11:9160200-9168000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:9160200-9174600	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr11:9160200-9174800	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr11:9160200-9175600	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr11:9160400-9167800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr11:9160400-9171400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr11:9160400-9174200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr11:9160400-9175600	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr11:9160600-9172000	Strong transcription	Colon Smooth Muscle	Colon
29	chr11:9160600-9174000	Strong transcription	H9 Cell Line	embryonic stem cell
30	chr11:9160600-9174200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr11:9160600-9174200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr11:9160600-9175400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr11:9160800-9167000	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr11:9160800-9174000	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr11:9161000-9174000	Strong transcription	Primary B cells from cord blood	blood
36	chr11:9161200-9172200	Strong transcription	Rectal Smooth Muscle	rectum
37	chr11:9161200-9172400	Strong transcription	Duodenum Mucosa	Duodenum
38	chr11:9161200-9174000	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr11:9161200-9174200	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr11:9161200-9175400	Strong transcription	Fetal Lung	lung
41	chr11:9161200-9202400	Weak transcription	Small Intestine	intestine
42	chr11:9161400-9171600	Strong transcription	HSMM	muscle
43	chr11:9161400-9172000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr11:9161400-9173000	Weak transcription	Stomach Mucosa	stomach
45	chr11:9161400-9174200	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr11:9161400-9175600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr11:9161400-9179200	Strong transcription	Fetal Stomach	stomach
48	chr11:9161400-9181000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr11:9161600-9171600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr11:9161600-9172200	Strong transcription	HSMMtube	muscle

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