Variant report

Variant	rs2042688
Chromosome Location	chr11:19186294-19186295
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:19185857..19188354-chr11:19242363..19244563,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10500841	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10500842	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs10741761	0.94[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10766528	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10833064	0.94[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10833065	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11025021	0.94[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11025025	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11025026	0.94[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11025028	0.89[EUR][1000 genomes]
rs11025037	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11604471	0.89[EUR][1000 genomes]
rs11604483	0.88[CEU][hapmap];0.94[TSI][hapmap];0.87[EUR][1000 genomes]
rs11606057	0.85[CEU][hapmap];0.89[EUR][1000 genomes]
rs11607797	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12270581	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12273085	0.87[EUR][1000 genomes]
rs12801321	0.88[CEU][hapmap];0.86[TSI][hapmap];0.91[EUR][1000 genomes]
rs1393954	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1393955	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1393957	0.82[TSI][hapmap]
rs1503506	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1503507	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1503508	0.89[EUR][1000 genomes]
rs1546327	0.88[CEU][hapmap];0.87[EUR][1000 genomes]
rs1875724	0.84[ASN][1000 genomes]
rs2042687	0.94[CEU][hapmap];0.92[EUR][1000 genomes]
rs2134622	0.94[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2271001	0.94[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28891775	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3758875	0.94[CHB][hapmap];0.89[JPT][hapmap];0.98[ASN][1000 genomes]
rs3802796	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3802797	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3802798	0.87[CEU][hapmap];0.92[TSI][hapmap];0.91[EUR][1000 genomes]
rs4326774	0.84[ASN][1000 genomes]
rs4756990	0.88[EUR][1000 genomes]
rs4757757	0.94[CEU][hapmap];0.94[CHB][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4757758	0.88[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4757759	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4757760	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59393175	0.99[ASN][1000 genomes]
rs7103110	0.97[ASN][1000 genomes]
rs7111105	0.88[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7120462	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7129212	0.94[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7129326	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7934179	0.94[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7950603	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7950788	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[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	nsv1040805	chr11:19037871-19892803	Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv540957	chr11:19037871-19892803	Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:19140000-19186400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr11:19140800-19186800	Weak transcription	Colonic Mucosa	Colon
3	chr11:19143400-19186400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr11:19143400-19201600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr11:19143600-19197400	Weak transcription	Small Intestine	intestine
6	chr11:19153200-19186600	Weak transcription	Aorta	Aorta
7	chr11:19156600-19193200	Weak transcription	Fetal Stomach	stomach
8	chr11:19156800-19193800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:19156800-19194200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:19161600-19194400	Weak transcription	HSMM	muscle
11	chr11:19162800-19203000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr11:19164000-19200400	Weak transcription	Fetal Brain Male	brain
13	chr11:19166400-19203000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr11:19166800-19186400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr11:19167000-19194200	Weak transcription	Fetal Kidney	kidney
16	chr11:19167400-19186600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr11:19167400-19194200	Weak transcription	Brain Hippocampus Middle	brain
18	chr11:19167800-19199400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr11:19168000-19201600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr11:19169000-19186800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr11:19169000-19189000	Weak transcription	Fetal Intestine Small	intestine
22	chr11:19169000-19194600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr11:19169400-19197800	Weak transcription	Colon Smooth Muscle	Colon
24	chr11:19169400-19200400	Weak transcription	Brain Angular Gyrus	brain
25	chr11:19170000-19200200	Strong transcription	Primary B cells from cord blood	blood
26	chr11:19171000-19190200	Weak transcription	NH-A	brain
27	chr11:19171600-19188000	Weak transcription	HMEC	breast
28	chr11:19171600-19192400	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr11:19172000-19186800	Weak transcription	Hela-S3	cervix
30	chr11:19172200-19208600	Weak transcription	Brain Substantia Nigra	brain
31	chr11:19172600-19186800	Weak transcription	NHDF-Ad	bronchial
32	chr11:19172800-19194200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr11:19172800-19194400	Weak transcription	Brain Germinal Matrix	brain
34	chr11:19173400-19196800	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr11:19174000-19186600	Weak transcription	Spleen	Spleen
36	chr11:19174000-19209000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr11:19174800-19189800	Weak transcription	Fetal Muscle Trunk	muscle
38	chr11:19175400-19186400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr11:19175600-19190600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr11:19176400-19213400	Weak transcription	Psoas Muscle	Psoas
41	chr11:19176600-19186600	Weak transcription	Fetal Muscle Leg	muscle
42	chr11:19176600-19194200	Weak transcription	Pancreas	Pancrea
43	chr11:19176800-19186600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr11:19176800-19196000	Weak transcription	Right Ventricle	heart
45	chr11:19177800-19192400	Strong transcription	HUVEC	blood vessel
46	chr11:19177800-19199000	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr11:19178200-19199800	Strong transcription	Primary T cells from cord blood	blood
48	chr11:19178600-19186400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr11:19178800-19186400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr11:19178800-19194600	Weak transcription	Fetal Lung	lung

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