Variant report

Variant	rs9888198
Chromosome Location	chr11:73241099-73241100
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	chr11:73018081..73018732-chr11:73241033..73241875,2	K562	blood:
2	chr11:73240973..73241953-chr11:73371670..73372602,3	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10898919	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11235738	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11235740	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11235745	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11235759	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11235775	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11235778	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235779	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11825028	1.00[ASN][1000 genomes]
rs12269884	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12274589	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12282790	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12282871	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12288934	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12290367	0.89[ASN][1000 genomes]
rs12290835	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12293596	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13328886	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3825005	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56721062	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57181830	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57536508	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57860998	1.00[AMR][1000 genomes]
rs59809325	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59955477	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs59991976	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60038108	1.00[EUR][1000 genomes]
rs60123349	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60349984	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60920919	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs61396858	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61613696	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7131397	0.89[ASN][1000 genomes]
rs9888218	0.89[ASN][1000 genomes]
rs9971494	1.00[EUR][1000 genomes];1.00[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	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	nsv1048171	chr11:73210060-73271831	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73205800-73241400	Weak transcription	Pancreas	Pancrea
2	chr11:73219200-73241400	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr11:73232600-73249400	Weak transcription	Brain Germinal Matrix	brain
4	chr11:73233000-73241400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr11:73236600-73244200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr11:73237800-73244200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr11:73238000-73241600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr11:73238400-73243600	Weak transcription	Aorta	Aorta
9	chr11:73238600-73244000	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr11:73239000-73245800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr11:73239400-73241200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr11:73239600-73242800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:73240000-73242000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr11:73240000-73242200	Weak transcription	Fetal Stomach	stomach
15	chr11:73240000-73242200	Weak transcription	Osteobl	bone
16	chr11:73240000-73242600	Weak transcription	Ovary	ovary
17	chr11:73240000-73243800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr11:73240000-73244000	Enhancers	Brain Angular Gyrus	brain
19	chr11:73240000-73244200	Enhancers	Small Intestine	intestine
20	chr11:73240200-73241400	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr11:73240200-73241600	Weak transcription	Primary hematopoietic stem cells	blood
22	chr11:73240200-73241600	Enhancers	Liver	Liver
23	chr11:73240200-73242600	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr11:73240200-73242800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr11:73240200-73243200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr11:73240200-73243400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr11:73240200-73243400	Enhancers	Duodenum Mucosa	Duodenum
28	chr11:73240200-73243800	Enhancers	Brain Cingulate Gyrus	brain
29	chr11:73240200-73244400	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr11:73240200-73245000	Weak transcription	Fetal Kidney	kidney
31	chr11:73240200-73249600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr11:73240200-73252600	Weak transcription	Placenta	Placenta
33	chr11:73240400-73241200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr11:73240400-73241200	Weak transcription	HepG2	liver
35	chr11:73240400-73241400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:73240400-73241400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr11:73240400-73241400	Weak transcription	Brain Substantia Nigra	brain
38	chr11:73240400-73241400	Weak transcription	Fetal Thymus	thymus
39	chr11:73240400-73241400	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr11:73240400-73241400	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr11:73240400-73241800	Weak transcription	Brain Anterior Caudate	brain
42	chr11:73240400-73242200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr11:73240400-73242200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr11:73240400-73242200	Weak transcription	Primary T cells from cord blood	blood
45	chr11:73240400-73242200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr11:73240400-73242400	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr11:73240400-73242400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr11:73240400-73242400	Weak transcription	Right Atrium	heart
49	chr11:73240400-73242600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr11:73240400-73242600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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