Variant report

Variant	rs7123581
Chromosome Location	chr11:10543924-10543925
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:10535540..10537535-chr11:10543160..10545486,2	K562	blood:
2	chr11:10541835..10545303-chr11:10545348..10548762,4	K562	blood:
3	chr11:10541656..10544963-chr11:10560896..10564071,4	K562	blood:
4	chr11:10534555..10537040-chr11:10542558..10544660,2	K562	blood:
5	chr11:10540875..10544152-chr11:10546119..10548762,4	K562	blood:

Variant related genes	Relation type
ENSG00000110315	Chromatin interaction
ENSG00000177112	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1047730	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11602469	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11604691	1.00[ASN][1000 genomes]
rs11607008	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];1.00[ASN][1000 genomes]
rs11826750	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12275930	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12290357	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12294022	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2054390	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4909938	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4909940	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4909941	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4910149	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4910150	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.83[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4910151	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7128848	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7131507	0.88[ASN][1000 genomes]
rs73411920	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7929890	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7936626	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7938782	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv1044011	chr11:10529353-10564450	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats 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 miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv819964	chr11:10537254-10545535	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10501600-10550600	Weak transcription	Small Intestine	intestine
2	chr11:10502600-10560800	Weak transcription	Fetal Brain Male	brain
3	chr11:10507800-10544800	Weak transcription	Fetal Kidney	kidney
4	chr11:10512800-10548600	Weak transcription	Right Ventricle	heart
5	chr11:10516000-10544000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr11:10522400-10546200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr11:10522400-10560800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr11:10524600-10544800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr11:10525800-10555600	Strong transcription	Primary B cells from peripheral blood	blood
10	chr11:10526400-10548800	Weak transcription	Spleen	Spleen
11	chr11:10526400-10549000	Weak transcription	Ovary	ovary
12	chr11:10526400-10551800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:10526400-10561600	Weak transcription	Colonic Mucosa	Colon
14	chr11:10526800-10548800	Weak transcription	Psoas Muscle	Psoas
15	chr11:10528400-10548800	Weak transcription	K562	blood
16	chr11:10528400-10550600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr11:10528400-10555800	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr11:10533200-10549000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr11:10533200-10552000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr11:10533200-10561600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr11:10533200-10561600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr11:10533400-10561400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr11:10533800-10557400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr11:10535600-10556200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr11:10536400-10546000	Weak transcription	A549	lung
26	chr11:10536400-10555600	Strong transcription	Primary B cells from cord blood	blood
27	chr11:10536600-10548600	Weak transcription	NH-A	brain
28	chr11:10536800-10544000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr11:10537600-10548800	Weak transcription	Brain Germinal Matrix	brain
30	chr11:10538200-10544400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr11:10538200-10561600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr11:10538400-10550600	Weak transcription	Pancreas	Pancrea
33	chr11:10538400-10561600	Weak transcription	Esophagus	oesophagus
34	chr11:10538400-10561600	Weak transcription	Lung	lung
35	chr11:10539200-10544000	Weak transcription	HepG2	liver
36	chr11:10539200-10548600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr11:10539400-10555800	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr11:10539600-10545000	Strong transcription	HSMM	muscle
39	chr11:10539600-10547800	Strong transcription	Osteobl	bone
40	chr11:10540000-10546800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr11:10540000-10548000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr11:10540200-10544000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr11:10540200-10544200	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr11:10540200-10546800	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr11:10540200-10548400	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr11:10540200-10549000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr11:10540200-10553400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr11:10540200-10555400	Strong transcription	Liver	Liver
49	chr11:10540200-10555600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:10540400-10545400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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