Variant report

Variant	rs11235810
Chromosome Location	chr11:73290487-73290488
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:73289699..73292318-chr11:73308150..73310462,2	K562	blood:

Variant related genes	Relation type
ENSG00000054965	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10898921	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11235736	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11235772	1.00[CEU][hapmap];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11235783	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11235784	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11235786	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11235787	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11235789	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11235790	1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11235791	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11235792	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11235796	1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11235802	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11235803	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11235807	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11235811	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235816	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12417351	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12417890	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12417977	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12418558	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12420228	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12421012	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17132126	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17244589	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1808095	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1939383	1.00[CEU][hapmap];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3087498	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34493385	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56277844	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56375530	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56394842	0.86[EUR][1000 genomes]
rs57225667	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60203229	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61018857	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3395161	chr11:73084616-73461577	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv983188	chr11:73273934-73307064	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv975202	chr11:73289057-73294849	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73250000-73307800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr11:73253800-73307000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr11:73263200-73306000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr11:73266600-73307800	Weak transcription	Fetal Intestine Small	intestine
5	chr11:73272200-73307600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr11:73274800-73290800	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr11:73275400-73307000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr11:73276400-73296800	Weak transcription	Fetal Muscle Leg	muscle
9	chr11:73276400-73299200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr11:73276400-73307000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr11:73277200-73299600	Weak transcription	Primary B cells from peripheral blood	blood
12	chr11:73277400-73307800	Weak transcription	Fetal Intestine Large	intestine
13	chr11:73277600-73293800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr11:73279400-73307000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr11:73279600-73291200	Weak transcription	Ovary	ovary
16	chr11:73280000-73299400	Weak transcription	Fetal Stomach	stomach
17	chr11:73280600-73296200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr11:73281600-73307800	Weak transcription	Hela-S3	cervix
19	chr11:73281800-73295400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr11:73282000-73296800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr11:73282200-73296400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr11:73282200-73296600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr11:73282200-73297000	Weak transcription	HMEC	breast
24	chr11:73282200-73297200	Weak transcription	NH-A	brain
25	chr11:73282400-73293800	Weak transcription	HSMM	muscle
26	chr11:73285200-73292400	Weak transcription	Right Atrium	heart
27	chr11:73285200-73294600	Weak transcription	Right Ventricle	heart
28	chr11:73285200-73303600	Weak transcription	Left Ventricle	heart
29	chr11:73285200-73306600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr11:73286000-73294800	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr11:73286200-73295000	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr11:73286800-73307600	Weak transcription	Lung	lung
33	chr11:73287800-73306200	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr11:73288000-73291200	Enhancers	Fetal Brain Male	brain
35	chr11:73288000-73306200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr11:73288200-73293800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr11:73288400-73307800	Weak transcription	Aorta	Aorta
38	chr11:73288800-73307600	Weak transcription	Fetal Kidney	kidney
39	chr11:73289000-73304800	Weak transcription	Thymus	Thymus
40	chr11:73289000-73305800	Weak transcription	Brain Cingulate Gyrus	brain
41	chr11:73289200-73291000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:73289200-73293800	Weak transcription	Psoas Muscle	Psoas
43	chr11:73289200-73294400	Weak transcription	Brain Substantia Nigra	brain
44	chr11:73289200-73299400	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr11:73289200-73300800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:73289200-73304600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr11:73289200-73304800	Weak transcription	Dnd41	blood
48	chr11:73289400-73291800	Strong transcription	Primary T cells from cord blood	blood
49	chr11:73289400-73293800	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr11:73289400-73293800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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