Variant report

Variant	rs7102006
Chromosome Location	chr11:63637540-63637541
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:63603344..63615182-chr11:63634321..63647771,46	MCF-7	breast:
2	chr11:63637157..63639514-chr11:63645420..63648152,2	K562	blood:
3	chr11:63636831..63641695-chr11:63668952..63673218,5	K562	blood:
4	chr11:63631966..63634780-chr11:63636847..63639729,3	K562	blood:
5	chr11:63610591..63619595-chr11:63634759..63639809,13	MCF-7	breast:
6	chr11:63636556..63639041-chr11:63667851..63671875,3	MCF-7	breast:
7	chr11:63604963..63609785-chr11:63634052..63642181,26	MCF-7	breast:
8	chr11:63628759..63635867-chr11:63636847..63643133,8	K562	blood:

No data

Variant related genes	Relation type
ENSG00000072518	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10736731	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10751001	0.87[ASN][1000 genomes]
rs10792421	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10792422	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10792423	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10897452	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10897453	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10897454	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11231600	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11231606	0.88[EUR][1000 genomes]
rs11231624	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11231628	0.85[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11231637	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11231640	0.89[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11605500	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12277481	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12576275	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1486936	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1872772	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2840079	0.89[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs320109	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs3802941	0.92[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.83[YRI][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3850943	0.87[ASN][1000 genomes]
rs4143327	0.92[EUR][1000 genomes]
rs4963433	0.87[ASN][1000 genomes]
rs4980503	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4980505	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4980507	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4980528	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4980529	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4980532	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4980533	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61604723	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6421686	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6591825	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7105288	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7108375	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7110843	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7118913	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7121067	0.86[EUR][1000 genomes]
rs72934134	0.87[AFR][1000 genomes]
rs7937314	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7939351	0.86[EUR][1000 genomes]
rs7939416	0.82[ASN][1000 genomes]
rs7944519	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7946503	0.85[EUR][1000 genomes]
rs7948656	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs923247	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs928948	0.85[CHB][hapmap];1.00[JPT][hapmap];0.95[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	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv468589	chr11:63515752-63713239	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv555180	chr11:63515752-63713239	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	esv1839119	chr11:63615554-63680052	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63619200-63638000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr11:63619400-63639400	Weak transcription	Ovary	ovary
3	chr11:63619600-63639200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr11:63626400-63637800	Weak transcription	NH-A	brain
5	chr11:63628800-63644200	Genic enhancers	Fetal Intestine Small	intestine
6	chr11:63629600-63638800	Enhancers	Stomach Mucosa	stomach
7	chr11:63630000-63640000	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr11:63630600-63642200	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr11:63630800-63637600	Weak transcription	Aorta	Aorta
10	chr11:63630800-63639400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:63630800-63641600	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr11:63632400-63638800	Genic enhancers	Fetal Thymus	thymus
13	chr11:63632400-63642600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr11:63632400-63643400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr11:63632400-63643600	Enhancers	Pancreas	Pancrea
16	chr11:63632600-63639400	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr11:63632600-63640800	Enhancers	Placenta	Placenta
18	chr11:63633000-63639200	Weak transcription	HepG2	liver
19	chr11:63633000-63639800	Enhancers	Fetal Heart	heart
20	chr11:63633000-63646800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:63633000-63646800	Weak transcription	Fetal Brain Female	brain
22	chr11:63633200-63644800	Enhancers	Brain Substantia Nigra	brain
23	chr11:63634200-63642400	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr11:63634600-63638200	Genic enhancers	GM12878-XiMat	blood
25	chr11:63634800-63638200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr11:63634800-63639000	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr11:63635200-63639000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr11:63635400-63638400	Genic enhancers	NHEK	skin
29	chr11:63635600-63638600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr11:63635600-63639400	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr11:63635600-63639800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr11:63635600-63641400	Enhancers	Esophagus	oesophagus
33	chr11:63635800-63637600	Enhancers	HMEC	breast
34	chr11:63635800-63637800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr11:63635800-63638400	Genic enhancers	Primary B cells from peripheral blood	blood
36	chr11:63635800-63638400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr11:63635800-63639600	Enhancers	Colon Smooth Muscle	Colon
38	chr11:63635800-63639800	Enhancers	Adipose Nuclei	Adipose
39	chr11:63636000-63637600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr11:63636000-63637600	Genic enhancers	Brain Anterior Caudate	brain
41	chr11:63636000-63637600	Strong transcription	Fetal Stomach	stomach
42	chr11:63636000-63637600	Genic enhancers	Dnd41	blood
43	chr11:63636000-63637800	Enhancers	Placenta Amnion	Placenta Amnion
44	chr11:63636000-63638000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr11:63636000-63638200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr11:63636000-63638200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr11:63636000-63638200	Genic enhancers	Fetal Muscle Trunk	muscle
48	chr11:63636000-63638400	Enhancers	H1 Cell Line	embryonic stem cell
49	chr11:63636000-63638400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr11:63636000-63638400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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