Variant report

Variant	rs1991923
Chromosome Location	chr11:85369198-85369199
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:85344282..85346606-chr11:85367280..85369213,2	MCF-7	breast:
2	chr11:85338471..85340497-chr11:85366834..85369762,4	MCF-7	breast:
3	chr11:85368615..85371955-chr11:85778453..85780555,3	MCF-7	breast:
4	chr11:85367507..85369377-chr11:85420172..85422732,2	K562	blood:

Variant related genes	Relation type
ENSG00000073921	Chromatin interaction
ENSG00000171204	Chromatin interaction
ENSG00000150672	Chromatin interaction

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10501595	0.89[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11234359	0.95[CHB][hapmap];0.93[JPT][hapmap];0.80[ASN][1000 genomes]
rs11603984	0.80[ASN][1000 genomes]
rs11604028	0.87[ASN][1000 genomes]
rs11820071	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1192	0.90[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1214001	1.00[CEU][hapmap];0.90[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];0.93[JPT][hapmap];0.81[MEX][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12417341	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12419172	0.88[CEU][hapmap];0.84[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1354397	0.95[CHB][hapmap]
rs17148254	0.98[ASN][1000 genomes]
rs17148293	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17148306	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17208492	0.90[CHB][hapmap];0.84[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.85[MKK][hapmap];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs17208519	0.90[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs17810659	0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs188311	0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs1892872	0.89[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2162055	0.93[ASN][1000 genomes]
rs2290823	0.88[CEU][hapmap];0.90[CHB][hapmap];0.87[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2467059	0.90[CHB][hapmap];0.87[CHD][hapmap];0.94[JPT][hapmap];0.82[LWK][hapmap];0.88[ASN][1000 genomes]
rs286499	0.94[CHB][hapmap]
rs286513	0.95[CHB][hapmap]
rs290175	0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs290177	0.90[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs290178	0.90[ASN][1000 genomes]
rs290182	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs290186	0.90[CHB][hapmap];0.94[CHD][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs290194	0.94[JPT][hapmap]
rs290196	0.94[JPT][hapmap]
rs290199	0.94[JPT][hapmap]
rs35097455	0.82[ASN][1000 genomes]
rs35844123	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4280023	0.86[ASN][1000 genomes]
rs4943918	0.94[CHB][hapmap]
rs4943925	0.86[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4944527	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4944529	0.90[CHB][hapmap];0.83[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4944531	0.88[CEU][hapmap];0.90[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4944532	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs497698	0.92[ASN][1000 genomes]
rs510948	0.88[JPT][hapmap]
rs537266	0.94[JPT][hapmap]
rs537604	0.88[JPT][hapmap];0.87[YRI][hapmap]
rs55739259	0.86[ASN][1000 genomes]
rs56073783	0.88[ASN][1000 genomes]
rs56238215	0.82[ASN][1000 genomes]
rs56273824	0.80[ASN][1000 genomes]
rs56321405	0.80[ASN][1000 genomes]
rs56579	0.90[CHB][hapmap];0.87[CHD][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs56737296	0.86[ASN][1000 genomes]
rs57223077	0.88[ASN][1000 genomes]
rs573766	0.93[JPT][hapmap]
rs578324	0.94[JPT][hapmap]
rs58152312	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs583122	0.94[JPT][hapmap]
rs58931064	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs592712	0.88[JPT][hapmap]
rs60484561	0.80[ASN][1000 genomes]
rs60838923	0.91[ASN][1000 genomes]
rs609012	0.88[JPT][hapmap]
rs61133973	0.83[ASN][1000 genomes]
rs61286868	0.87[ASN][1000 genomes]
rs613973	1.00[JPT][hapmap]
rs639688	0.81[JPT][hapmap]
rs650036	0.94[JPT][hapmap]
rs653559	0.94[JPT][hapmap]
rs6592252	0.95[ASN][1000 genomes]
rs6592253	0.95[ASN][1000 genomes]
rs681044	0.94[JPT][hapmap]
rs688741	0.94[JPT][hapmap]
rs7108132	0.95[ASN][1000 genomes]
rs7108137	0.88[ASN][1000 genomes]
rs7110363	0.95[CHB][hapmap]
rs7115250	0.97[ASN][1000 genomes]
rs7119617	0.90[CHB][hapmap];0.87[CHD][hapmap];0.97[GIH][hapmap];0.93[JPT][hapmap];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73499156	0.80[ASN][1000 genomes]
rs73499163	0.80[ASN][1000 genomes]
rs7939217	0.92[ASN][1000 genomes]
rs7943586	0.90[CHB][hapmap];0.90[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7948778	0.90[CHB][hapmap]
rs881121	0.89[CHB][hapmap];0.87[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.81[MKK][hapmap];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs947861	0.90[CHB][hapmap];0.87[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs947862	0.98[ASN][1000 genomes]
rs947863	0.90[CHB][hapmap];0.87[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051155	chr11:85006564-85721261	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv541110	chr11:85006564-85721261	Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv898047	chr11:85180409-85377707	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	esv2758279	chr11:85180480-85603988	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	esv2759845	chr11:85180480-85603988	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription 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	56 gene(s)	inside rSNPs	diseases
6	nsv898048	chr11:85206156-85404138	Flanking Active TSS Genic enhancers Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85359400-85370400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:85359400-85373000	Weak transcription	Small Intestine	intestine
3	chr11:85359400-85374000	Weak transcription	Esophagus	oesophagus
4	chr11:85359600-85373000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:85359600-85373400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:85359800-85372600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr11:85359800-85373000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:85359800-85373000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr11:85359800-85373000	Weak transcription	Ovary	ovary
10	chr11:85359800-85373200	Weak transcription	Fetal Stomach	stomach
11	chr11:85360000-85373000	Weak transcription	Colonic Mucosa	Colon
12	chr11:85360200-85369200	Weak transcription	Brain Angular Gyrus	brain
13	chr11:85360200-85371200	Weak transcription	Fetal Brain Male	brain
14	chr11:85360200-85372200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr11:85360200-85373000	Weak transcription	Thymus	Thymus
16	chr11:85360400-85373000	Weak transcription	Right Ventricle	heart
17	chr11:85360400-85373200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr11:85360400-85374000	Weak transcription	Lung	lung
19	chr11:85360400-85374000	Weak transcription	Pancreas	Pancrea
20	chr11:85360400-85374200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr11:85360600-85369600	Weak transcription	Brain Germinal Matrix	brain
22	chr11:85360600-85370400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr11:85360600-85371400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr11:85360800-85369200	Weak transcription	Brain Cingulate Gyrus	brain
25	chr11:85360800-85370200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr11:85360800-85372600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr11:85360800-85372600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr11:85361000-85370400	Weak transcription	Fetal Intestine Small	intestine
29	chr11:85361400-85369200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr11:85361400-85373000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr11:85361600-85369200	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr11:85361800-85370400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:85362000-85369800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr11:85362200-85369400	Strong transcription	NHDF-Ad	bronchial
35	chr11:85362200-85370000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr11:85362400-85369400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr11:85362400-85372600	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr11:85362600-85374200	Weak transcription	Spleen	Spleen
39	chr11:85362800-85371000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr11:85362800-85371000	Weak transcription	Rectal Smooth Muscle	rectum
41	chr11:85362800-85372000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr11:85362800-85373400	Weak transcription	Left Ventricle	heart
43	chr11:85363000-85373000	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr11:85363200-85370400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr11:85363200-85373000	Weak transcription	Aorta	Aorta
46	chr11:85363200-85373000	Weak transcription	Fetal Muscle Leg	muscle
47	chr11:85363600-85369600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr11:85363800-85369200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr11:85363800-85371000	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr11:85364000-85369200	Strong transcription	HUVEC	blood vessel

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