Variant report

Variant	rs9988855
Chromosome Location	chr11:16634707-16634708
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	chr11:16634578..16636953-chr11:16760027..16762559,3	K562	blood:

Variant related genes	Relation type
ENSG00000110693	Chromatin interaction
ENSG00000110696	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10741703	0.82[AFR][1000 genomes]
rs10741709	0.80[AMR][1000 genomes]
rs10766329	0.87[EUR][1000 genomes]
rs10766331	0.88[EUR][1000 genomes]
rs10766337	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10766343	0.89[GIH][hapmap];0.95[MEX][hapmap];0.88[MKK][hapmap];0.85[TSI][hapmap];0.82[AMR][1000 genomes]
rs10832613	1.00[CEU][hapmap];0.95[MEX][hapmap]
rs10832614	1.00[CEU][hapmap];0.95[MEX][hapmap]
rs10832622	0.85[EUR][1000 genomes]
rs10832627	0.87[EUR][1000 genomes]
rs10832628	0.87[EUR][1000 genomes]
rs10832629	0.88[EUR][1000 genomes]
rs10832635	0.88[EUR][1000 genomes]
rs10832637	0.88[EUR][1000 genomes]
rs10832639	0.88[EUR][1000 genomes]
rs10832640	0.88[EUR][1000 genomes]
rs10832642	0.90[EUR][1000 genomes]
rs10832643	0.90[EUR][1000 genomes]
rs10832647	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10832648	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10832668	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10832671	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10832672	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10832674	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11023948	0.93[CEU][hapmap]
rs11023962	0.85[EUR][1000 genomes]
rs11023981	0.88[EUR][1000 genomes]
rs11023988	0.93[EUR][1000 genomes]
rs11024012	1.00[ASW][hapmap];0.86[CEU][hapmap];0.93[GIH][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.99[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11024033	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11529132	0.87[EUR][1000 genomes]
rs11529582	0.85[EUR][1000 genomes]
rs12270317	0.88[EUR][1000 genomes]
rs12271656	0.87[EUR][1000 genomes]
rs12276256	0.87[EUR][1000 genomes]
rs12283896	0.93[EUR][1000 genomes]
rs12289091	0.97[EUR][1000 genomes]
rs12289093	0.93[EUR][1000 genomes]
rs12289098	0.83[EUR][1000 genomes]
rs12293115	1.00[CEU][hapmap]
rs12295506	0.83[EUR][1000 genomes]
rs12574185	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12575840	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12576360	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12794400	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12806064	0.85[EUR][1000 genomes]
rs34840028	0.93[EUR][1000 genomes]
rs35223308	0.87[EUR][1000 genomes]
rs36002981	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4492775	0.85[EUR][1000 genomes]
rs4511252	0.92[EUR][1000 genomes]
rs4525190	0.88[EUR][1000 genomes]
rs4536174	0.86[EUR][1000 genomes]
rs4603269	0.93[EUR][1000 genomes]
rs56965201	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57248274	0.87[EUR][1000 genomes]
rs60439454	0.87[EUR][1000 genomes]
rs6486296	0.96[EUR][1000 genomes]
rs6486298	0.97[EUR][1000 genomes]
rs6486300	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7103094	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7109995	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7111016	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7115099	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7116121	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7117636	0.87[EUR][1000 genomes]
rs7118181	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7118874	1.00[CEU][hapmap];0.95[MEX][hapmap]
rs7126577	0.85[EUR][1000 genomes]
rs7127280	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7128876	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7129286	0.88[EUR][1000 genomes]
rs7924787	0.88[EUR][1000 genomes]
rs7927904	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7928885	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7935041	0.97[EUR][1000 genomes]
rs7937139	0.88[EUR][1000 genomes]
rs7942856	0.92[EUR][1000 genomes]
rs7943712	0.86[EUR][1000 genomes]
rs7945295	0.90[EUR][1000 genomes]
rs7945898	0.85[EUR][1000 genomes]
rs7951676	1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.80[EUR][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	nsv553566	chr11:16329009-16799044	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv897016	chr11:16455794-16691743	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16631800-16635000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
2	chr11:16632600-16635000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr11:16632800-16635000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:16632800-16636000	Bivalent/Poised TSS	Fetal Kidney	kidney
5	chr11:16632800-16636200	Bivalent/Poised TSS	Fetal Brain Female	brain
6	chr11:16633000-16635000	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
7	chr11:16633200-16634800	Bivalent/Poised TSS	Brain Angular Gyrus	brain
8	chr11:16633200-16635000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
9	chr11:16633200-16635000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr11:16633200-16635400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
11	chr11:16633200-16636200	Active TSS	Right Atrium	heart
12	chr11:16633200-16636400	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr11:16633400-16635400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr11:16633600-16634800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
15	chr11:16633600-16635000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr11:16633600-16635000	Enhancers	Gastric	stomach
17	chr11:16633800-16636000	Active TSS	Right Ventricle	heart
18	chr11:16634200-16634800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr11:16634200-16634800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr11:16634200-16634800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr11:16634200-16634800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
22	chr11:16634200-16634800	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
23	chr11:16634200-16634800	Flanking Bivalent TSS/Enh	Fetal Lung	lung
24	chr11:16634200-16634800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
25	chr11:16634200-16634800	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
26	chr11:16634200-16634800	Bivalent Enhancer	HMEC	breast
27	chr11:16634200-16635000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
28	chr11:16634200-16635000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr11:16634200-16635000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
30	chr11:16634200-16635000	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
31	chr11:16634200-16635000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr11:16634200-16635000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr11:16634200-16635000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
34	chr11:16634200-16635000	Bivalent Enhancer	NHDF-Ad	bronchial
35	chr11:16634200-16635200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr11:16634200-16635200	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
37	chr11:16634200-16635200	Flanking Bivalent TSS/Enh	NH-A	brain
38	chr11:16634200-16635400	Bivalent Enhancer	Stomach Mucosa	stomach
39	chr11:16634200-16635800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
40	chr11:16634200-16636000	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
41	chr11:16634200-16636000	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
42	chr11:16634200-16636000	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
43	chr11:16634200-16636000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
44	chr11:16634200-16636000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
45	chr11:16634200-16636000	Flanking Active TSS	Pancreas	Pancrea
46	chr11:16634200-16636000	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
47	chr11:16634200-16636000	Bivalent/Poised TSS	HSMM	muscle
48	chr11:16634200-16636000	Flanking Bivalent TSS/Enh	NHEK	skin
49	chr11:16634200-16636200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
50	chr11:16634400-16634800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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