Variant report

Variant	rs2276385
Chromosome Location	chr11:71701502-71701503
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:71639752..71641545-chr11:71700204..71703182,2	MCF-7	breast:
2	chr11:71701372..71704130-chr11:71713984..71716251,2	K562	blood:
3	chr11:71696643..71698574-chr11:71700345..71702510,2	MCF-7	breast:
4	chr11:71700377..71703102-chr11:71705568..71707069,2	K562	blood:
5	chr11:71700377..71703208-chr11:71704361..71707069,2	K562	blood:
6	chr11:71697764..71701734-chr11:71709380..71711221,3	MCF-7	breast:
7	chr11:71692780..71694437-chr11:71700884..71703038,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137496	Chromatin interaction
ENSG00000137522	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs17161701	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17161942	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs2276383	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34075366	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35501875	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35844388	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3750913	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3750914	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3763797	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55743841	0.92[EUR][1000 genomes]
rs55815017	0.92[EUR][1000 genomes]
rs55938043	0.88[EUR][1000 genomes]
rs55992367	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57162500	0.92[EUR][1000 genomes]
rs5743658	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5743661	0.88[ASN][1000 genomes]
rs57637306	0.92[EUR][1000 genomes]
rs60057760	0.92[EUR][1000 genomes]
rs60165720	0.92[EUR][1000 genomes]
rs61745941	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7109653	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs7111712	0.96[EUR][1000 genomes]
rs7113974	0.92[EUR][1000 genomes]
rs7129814	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs72477716	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73527732	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73544108	0.92[EUR][1000 genomes]
rs9667883	0.93[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	nsv428262	chr11:71363639-71804055	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2276385	KCNAB1	trans	lymphoblastoid	RTeQTL
rs2276385	NUMA1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71660800-71709400	Weak transcription	Stomach Mucosa	stomach
2	chr11:71661000-71709600	Weak transcription	Small Intestine	intestine
3	chr11:71672200-71715200	Weak transcription	Fetal Brain Male	brain
4	chr11:71672400-71709400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr11:71672600-71709200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr11:71673600-71710800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr11:71673800-71701800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr11:71673800-71707800	Weak transcription	Fetal Heart	heart
9	chr11:71674000-71710600	Weak transcription	Brain Germinal Matrix	brain
10	chr11:71677000-71709400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr11:71677200-71736600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr11:71678000-71710600	Weak transcription	HMEC	breast
13	chr11:71681200-71709400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr11:71684200-71709000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr11:71687800-71703000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr11:71688600-71703200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:71689000-71711800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr11:71689600-71702400	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr11:71691400-71701600	Weak transcription	Brain Angular Gyrus	brain
20	chr11:71691400-71701600	Weak transcription	Brain Anterior Caudate	brain
21	chr11:71691400-71705800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr11:71693400-71702200	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr11:71695000-71701800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr11:71695200-71705800	Weak transcription	Lung	lung
25	chr11:71695200-71706400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr11:71695200-71709400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr11:71695200-71709400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr11:71695200-71710600	Weak transcription	Esophagus	oesophagus
29	chr11:71695400-71707600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr11:71695400-71709800	Weak transcription	Dnd41	blood
31	chr11:71695400-71712200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr11:71695400-71713000	Weak transcription	Psoas Muscle	Psoas
33	chr11:71697600-71701600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr11:71697600-71702000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr11:71697800-71701800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr11:71698400-71701600	Strong transcription	Fetal Intestine Small	intestine
37	chr11:71698600-71708800	Strong transcription	A549	lung
38	chr11:71699200-71702200	Weak transcription	Primary hematopoietic stem cells	blood
39	chr11:71699400-71701600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr11:71699400-71701600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr11:71699400-71701600	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr11:71699400-71706400	Weak transcription	Right Ventricle	heart
43	chr11:71699400-71707800	Weak transcription	Hela-S3	cervix
44	chr11:71699400-71710200	Weak transcription	NHDF-Ad	bronchial
45	chr11:71699600-71701600	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr11:71699600-71701600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr11:71699600-71701600	Weak transcription	Adipose Nuclei	Adipose
48	chr11:71699600-71701600	Weak transcription	Fetal Lung	lung
49	chr11:71699600-71701800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr11:71699600-71706200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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