Variant report

Variant	rs10742806
Chromosome Location	chr11:47456226-47456227
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:47411798..47414791-chr11:47455255..47456985,2	K562	blood:
2	chr11:47446158..47448061-chr11:47454722..47456544,3	MCF-7	breast:
3	chr11:47453415..47456321-chr11:47460580..47462674,2	K562	blood:

Variant related genes	Relation type
ENSG00000252327	Chromatin interaction
ENSG00000165916	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1044269	0.94[JPT][hapmap]
rs10742805	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10742816	0.94[JPT][hapmap]
rs10769267	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11819955	0.94[JPT][hapmap]
rs11820650	0.81[ASN][1000 genomes]
rs11820680	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11821917	0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs11824864	0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs11828339	0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs12282783	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12419342	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1474056	0.94[JPT][hapmap]
rs17198158	0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs17790804	0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs2138767	0.94[JPT][hapmap]
rs2242511	0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs3740684	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3740685	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3781628	0.80[ASN][1000 genomes]
rs3824867	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3847503	0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs4147730	0.94[JPT][hapmap]
rs4237544	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4282946	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4752783	0.94[JPT][hapmap]
rs4752786	0.94[JPT][hapmap]
rs4752829	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4752836	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4752837	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4752839	0.89[JPT][hapmap]
rs4752843	0.94[JPT][hapmap]
rs4752992	0.80[ASN][1000 genomes]
rs60380053	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60882887	0.83[ASN][1000 genomes]
rs61000762	0.83[ASN][1000 genomes]
rs7101772	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7104366	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7105122	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7105907	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7107853	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7108143	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7111873	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7117277	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7119556	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7125468	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7126210	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7130693	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs753812	0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs7931089	0.93[JPT][hapmap]
rs7948705	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9666924	0.94[JPT][hapmap]
rs9734013	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9919526	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];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	nsv897323	chr11:47182926-47460306	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv832141	chr11:47333180-47520993	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv825871	chr11:47376020-47457537	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv897325	chr11:47411736-47600438	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers 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 miRNA target site	55 gene(s)	inside rSNPs	diseases
5	nsv1036011	chr11:47413060-47582279	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
6	nsv975328	chr11:47446815-47471052	Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47448600-47459600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:47448600-47488400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:47449000-47457200	Weak transcription	Right Atrium	heart
4	chr11:47449000-47459200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr11:47449000-47459400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr11:47453400-47458800	Enhancers	HepG2	liver
7	chr11:47453400-47469200	Weak transcription	Psoas Muscle	Psoas
8	chr11:47453400-47480000	Weak transcription	Thymus	Thymus
9	chr11:47453600-47459000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr11:47454600-47456600	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr11:47454600-47457800	Enhancers	Liver	Liver
12	chr11:47454800-47456400	Enhancers	HSMMtube	muscle
13	chr11:47454800-47456600	Enhancers	Fetal Muscle Leg	muscle
14	chr11:47454800-47456800	Enhancers	HSMM	muscle
15	chr11:47455000-47458400	Weak transcription	Fetal Intestine Small	intestine
16	chr11:47455200-47458800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr11:47455200-47459000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr11:47455200-47459200	Weak transcription	Fetal Muscle Trunk	muscle
19	chr11:47455200-47459400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr11:47455600-47456600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr11:47455600-47456600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr11:47455600-47456600	Enhancers	Osteobl	bone
23	chr11:47455600-47456800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr11:47455800-47456400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr11:47455800-47456400	Enhancers	Brain Anterior Caudate	brain
26	chr11:47455800-47456400	Enhancers	Ovary	ovary
27	chr11:47455800-47456400	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr11:47455800-47456600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr11:47455800-47456600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr11:47455800-47456600	Enhancers	Muscle Satellite Cultured Cells	--
31	chr11:47455800-47456600	Enhancers	NHLF	lung
32	chr11:47456200-47456400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr11:47456200-47458800	Weak transcription	Stomach Smooth Muscle	stomach
34	chr11:47456200-47459200	Weak transcription	Adipose Nuclei	Adipose

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