Variant report

Variant	rs11604691
Chromosome Location	chr11:10548048-10548049
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:10500501..10502775-chr11:10545214..10548072,2	K562	blood:
2	chr11:10541835..10545303-chr11:10545348..10548762,4	K562	blood:
3	chr11:10499489..10502562-chr11:10546012..10549335,3	K562	blood:
4	chr11:10546252..10548492-chr11:10548781..10550979,2	K562	blood:
5	chr11:10544820..10548586-chr11:10548781..10551121,4	K562	blood:
6	chr11:10540875..10544152-chr11:10546119..10548762,4	K562	blood:
7	chr11:10546523..10548193-chr11:10551263..10553003,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1047730	0.94[ASN][1000 genomes]
rs11602469	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11607008	1.00[ASN][1000 genomes]
rs11826750	0.90[ASN][1000 genomes]
rs12275930	0.85[ASN][1000 genomes]
rs12290357	0.98[ASN][1000 genomes]
rs12294022	0.80[ASN][1000 genomes]
rs2054390	1.00[ASN][1000 genomes]
rs4909938	0.99[ASN][1000 genomes]
rs4909940	1.00[ASN][1000 genomes]
rs4909941	0.88[ASN][1000 genomes]
rs4910149	0.97[ASN][1000 genomes]
rs4910150	0.99[ASN][1000 genomes]
rs4910151	0.84[ASN][1000 genomes]
rs7123581	1.00[ASN][1000 genomes]
rs7128848	0.98[ASN][1000 genomes]
rs7131507	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73411920	1.00[ASN][1000 genomes]
rs7929890	0.99[ASN][1000 genomes]
rs7936626	0.98[ASN][1000 genomes]
rs7938782	0.88[ASN][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	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

No data

Chromatin state (count:121 , 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	chr11:10512800-10548600	Weak transcription	Right Ventricle	heart
4	chr11:10522400-10560800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr11:10525800-10555600	Strong transcription	Primary B cells from peripheral blood	blood
6	chr11:10526400-10548800	Weak transcription	Spleen	Spleen
7	chr11:10526400-10549000	Weak transcription	Ovary	ovary
8	chr11:10526400-10551800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:10526400-10561600	Weak transcription	Colonic Mucosa	Colon
10	chr11:10526800-10548800	Weak transcription	Psoas Muscle	Psoas
11	chr11:10528400-10548800	Weak transcription	K562	blood
12	chr11:10528400-10550600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr11:10528400-10555800	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr11:10533200-10549000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr11:10533200-10552000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr11:10533200-10561600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr11:10533200-10561600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr11:10533400-10561400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr11:10533800-10557400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr11:10535600-10556200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr11:10536400-10555600	Strong transcription	Primary B cells from cord blood	blood
22	chr11:10536600-10548600	Weak transcription	NH-A	brain
23	chr11:10537600-10548800	Weak transcription	Brain Germinal Matrix	brain
24	chr11:10538200-10561600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr11:10538400-10550600	Weak transcription	Pancreas	Pancrea
26	chr11:10538400-10561600	Weak transcription	Esophagus	oesophagus
27	chr11:10538400-10561600	Weak transcription	Lung	lung
28	chr11:10539200-10548600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr11:10539400-10555800	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr11:10540200-10548400	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr11:10540200-10549000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr11:10540200-10553400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr11:10540200-10555400	Strong transcription	Liver	Liver
34	chr11:10540200-10555600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:10540400-10549400	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr11:10540400-10551600	Strong transcription	Dnd41	blood
37	chr11:10540400-10553600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr11:10540600-10548800	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr11:10540600-10549000	Strong transcription	Duodenum Mucosa	Duodenum
40	chr11:10540600-10549600	Strong transcription	Stomach Smooth Muscle	stomach
41	chr11:10540600-10552000	Strong transcription	Fetal Muscle Trunk	muscle
42	chr11:10540600-10552200	Strong transcription	Adipose Nuclei	Adipose
43	chr11:10540600-10554600	Strong transcription	Primary hematopoietic stem cells	blood
44	chr11:10540600-10555600	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr11:10540800-10555200	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr11:10541000-10551800	Strong transcription	Primary T cells from cord blood	blood
47	chr11:10541200-10548600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr11:10541400-10561600	Weak transcription	Fetal Heart	heart
49	chr11:10541600-10548600	Weak transcription	Stomach Mucosa	stomach
50	chr11:10541600-10549000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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