Variant report

Variant	rs11600974
Chromosome Location	chr11:47653711-47653712
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:47650534..47652404-chr11:47653064..47655999,2	MCF-7	breast:
2	chr11:47648151..47655137-chr11:47656071..47661932,11	K562	blood:
3	chr11:47587041..47589864-chr11:47651902..47653803,2	K562	blood:
4	chr11:47652437..47655137-chr11:47656639..47658574,2	K562	blood:

Variant related genes	Relation type
ENSG00000110536	Chromatin interaction
ENSG00000109919	Chromatin interaction
ENSG00000149187	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11039358	1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[TSI][hapmap]
rs11537751	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11601083	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11602333	1.00[CEU][hapmap]
rs11602837	0.82[AMR][1000 genomes]
rs11603911	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs11605061	1.00[CEU][hapmap];0.82[AMR][1000 genomes]
rs11605681	1.00[MKK][hapmap];0.83[TSI][hapmap];1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs11607518	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];0.82[AMR][1000 genomes]
rs11608017	1.00[GIH][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2903989	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs36016346	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7105517	0.83[EUR][1000 genomes]
rs7113438	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7123576	1.00[MEX][hapmap]
rs9089	1.00[AMR][1000 genomes];1.00[EUR][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	nsv832142	chr11:47517955-47681310	Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv825872	chr11:47565425-47660330	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv469858	chr11:47647515-47837172	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47636600-47661400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr11:47636800-47653800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:47637600-47657200	Strong transcription	Primary B cells from peripheral blood	blood
4	chr11:47637600-47660800	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr11:47637600-47661200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:47637600-47663200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr11:47637800-47660400	Strong transcription	Sigmoid Colon	Sigmoid Colon
8	chr11:47637800-47661000	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr11:47637800-47661000	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr11:47638000-47661400	Strong transcription	Fetal Thymus	thymus
11	chr11:47638000-47661800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr11:47638200-47661200	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr11:47638200-47661200	Strong transcription	Stomach Smooth Muscle	stomach
14	chr11:47638200-47661600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr11:47638200-47661600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:47638400-47653800	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr11:47638400-47654000	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr11:47638400-47660400	Strong transcription	Dnd41	blood
19	chr11:47638400-47661200	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr11:47638600-47654000	Strong transcription	H1 Cell Line	embryonic stem cell
21	chr11:47638600-47657200	Strong transcription	Skeletal Muscle Female	skeletal muscle
22	chr11:47638800-47661600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr11:47639000-47658000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr11:47639000-47661200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr11:47639000-47661400	Strong transcription	Fetal Muscle Leg	muscle
26	chr11:47639000-47662600	Weak transcription	Stomach Mucosa	stomach
27	chr11:47639200-47653800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr11:47639200-47657600	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr11:47639400-47655400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:47639600-47661200	Strong transcription	Fetal Muscle Trunk	muscle
31	chr11:47639800-47657600	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr11:47640000-47653800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr11:47640000-47661000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr11:47640200-47661200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr11:47640200-47661200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr11:47640200-47661200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr11:47640400-47653800	Strong transcription	Fetal Brain Female	brain
38	chr11:47640600-47661400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr11:47640800-47661400	Strong transcription	Fetal Intestine Small	intestine
40	chr11:47640800-47661400	Strong transcription	Fetal Stomach	stomach
41	chr11:47641400-47653800	Strong transcription	Osteobl	bone
42	chr11:47641800-47653800	Strong transcription	Primary T cells from cord blood	blood
43	chr11:47641800-47657600	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr11:47641800-47657600	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr11:47641800-47659200	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr11:47641800-47661200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr11:47641800-47661600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr11:47642000-47654200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr11:47642000-47661400	Strong transcription	Placenta	Placenta
50	chr11:47642000-47661800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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