Variant report

Variant	rs7127484
Chromosome Location	chr11:36485919-36485920
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:36484356..36487106-chr11:36488282..36491848,3	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1046864	0.92[CEU][hapmap];1.00[CHB][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10836567	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11033641	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11033644	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11033647	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11033650	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11033651	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11601211	1.00[MEX][hapmap]
rs2201845	0.84[CEU][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap]
rs2303439	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs331457	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs331459	0.92[ASN][1000 genomes]
rs331463	0.87[EUR][1000 genomes]
rs4755453	0.92[CEU][hapmap];0.80[EUR][1000 genomes]
rs502243	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5030403	0.81[CEU][hapmap];1.00[JPT][hapmap]
rs5030409	0.83[CEU][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap]
rs5030437	0.92[CEU][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes]
rs5030445	0.92[CEU][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes]
rs5030470	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5030472	0.84[CEU][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap]
rs5030482	0.92[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5030485	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5030486	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs540386	0.92[CEU][hapmap];1.00[CHB][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs552140	0.92[CEU][hapmap];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7109169	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7111402	0.89[GIH][hapmap];0.95[TSI][hapmap]
rs7927299	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs890258	0.83[TSI][hapmap]
rs981981	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs981982	0.96[AMR][1000 genomes];0.98[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	nsv467791	chr11:36108497-36999385	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv554003	chr11:36108497-36999385	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv1046452	chr11:36460958-36503079	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 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	chr11:36471800-36506800	Weak transcription	Gastric	stomach
2	chr11:36471800-36506800	Weak transcription	Pancreas	Pancrea
3	chr11:36473000-36488000	Weak transcription	Liver	Liver
4	chr11:36473200-36505600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr11:36474200-36486800	Weak transcription	Small Intestine	intestine
6	chr11:36474800-36511000	Weak transcription	Fetal Kidney	kidney
7	chr11:36475200-36486000	Strong transcription	Sigmoid Colon	Sigmoid Colon
8	chr11:36477800-36488200	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr11:36478000-36487400	Weak transcription	Esophagus	oesophagus
10	chr11:36478000-36488400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr11:36478000-36488800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr11:36478000-36489400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr11:36478200-36489800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:36478200-36508800	Weak transcription	Fetal Brain Female	brain
15	chr11:36478400-36486000	Strong transcription	Rectal Mucosa Donor 31	rectum
16	chr11:36478400-36488000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr11:36478400-36491600	Weak transcription	Brain Angular Gyrus	brain
18	chr11:36478600-36487600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr11:36478600-36488800	Weak transcription	HMEC	breast
20	chr11:36478600-36490800	Weak transcription	Right Atrium	heart
21	chr11:36478600-36506400	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr11:36478800-36487200	Weak transcription	Placenta	Placenta
23	chr11:36478800-36487400	Weak transcription	Fetal Muscle Leg	muscle
24	chr11:36478800-36488800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr11:36478800-36489400	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr11:36478800-36489400	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr11:36478800-36491200	Weak transcription	NHDF-Ad	bronchial
28	chr11:36478800-36491600	Weak transcription	Brain Anterior Caudate	brain
29	chr11:36478800-36492200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr11:36478800-36505400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr11:36478800-36510400	Weak transcription	Right Ventricle	heart
32	chr11:36478800-36512200	Weak transcription	Colon Smooth Muscle	Colon
33	chr11:36480400-36486600	Weak transcription	Primary hematopoietic stem cells	blood
34	chr11:36480600-36490800	Weak transcription	Lung	lung
35	chr11:36481800-36508600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr11:36482200-36487400	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr11:36482400-36489000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:36482600-36489000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr11:36482800-36489600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr11:36482800-36491200	Weak transcription	Fetal Lung	lung
41	chr11:36484200-36486000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr11:36484400-36489400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr11:36484400-36492200	Weak transcription	Aorta	Aorta
44	chr11:36484400-36506800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr11:36484600-36486000	Enhancers	HSMM	muscle
46	chr11:36484600-36487400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr11:36484600-36489200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr11:36484800-36486000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr11:36484800-36486000	Enhancers	HSMMtube	muscle
50	chr11:36484800-36487600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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