Variant report

Variant	rs486995
Chromosome Location	chr11:57521228-57521229
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:57514253..57516697-chr11:57521037..57524860,3	K562	blood:

Extended variants
information (count: 74 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10896634	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11229087	0.84[ASN][1000 genomes]
rs11229115	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1267146	0.86[ASN][1000 genomes]
rs1424752	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2848445	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs479573	0.82[ASN][1000 genomes]
rs480933	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs483030	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs491719	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs492131	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs501054	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs501738	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs503037	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs504311	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs504921	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs507946	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs509564	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs511708	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs515939	0.88[ASN][1000 genomes]
rs517638	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs518804	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs523985	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs527140	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs530094	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs536673	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs537627	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs540234	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs541245	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs544446	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs549022	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs549279	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs558653	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs567017	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs577741	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs580223	0.82[EUR][1000 genomes]
rs581217	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58132137	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs594233	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs604094	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs604344	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs608648	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs609596	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs612688	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61888873	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61888880	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs624759	0.84[EUR][1000 genomes]
rs627816	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs628100	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs636807	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs638864	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs640767	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs645097	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs647264	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs656227	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs658183	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs666021	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs669433	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs669950	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs675154	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs676205	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs685110	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs694131	0.80[EUR][1000 genomes]
rs694261	0.80[EUR][1000 genomes]
rs7108113	0.80[ASN][1000 genomes]
rs72928102	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs96894	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv1040913	chr11:57315006-57696122	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	nsv832164	chr11:57407617-57578825	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
6	nsv508633	chr11:57419585-57560045	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
7	esv3378265	chr11:57521201-57523749	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs486995	MED19	Cis_1M	lymphoblastoid	RTeQTL
rs486995	MED19	cis	Artery Tibial	GTEx

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57510400-57528800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:57511800-57528800	Weak transcription	Fetal Brain Male	brain
3	chr11:57512000-57528800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr11:57512200-57528800	Weak transcription	Colon Smooth Muscle	Colon
5	chr11:57512400-57528800	Weak transcription	HSMM	muscle
6	chr11:57512600-57521800	Weak transcription	Fetal Lung	lung
7	chr11:57512600-57526400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr11:57512600-57528800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr11:57512800-57521600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr11:57512800-57528800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr11:57513000-57528800	Weak transcription	HSMMtube	muscle
12	chr11:57513200-57528600	Weak transcription	NHEK	skin
13	chr11:57513600-57528800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr11:57513600-57528800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr11:57513600-57528800	Weak transcription	Colonic Mucosa	Colon
16	chr11:57513600-57529200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:57513600-57531200	Weak transcription	Gastric	stomach
18	chr11:57513800-57523600	Weak transcription	Primary T cells from cord blood	blood
19	chr11:57513800-57528600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr11:57513800-57528600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr11:57513800-57528800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr11:57513800-57528800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr11:57513800-57528800	Weak transcription	Dnd41	blood
24	chr11:57514000-57528800	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr11:57514200-57530000	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr11:57514400-57528600	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr11:57514400-57528800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr11:57514600-57528800	Weak transcription	Placenta	Placenta
29	chr11:57514800-57528600	Weak transcription	Fetal Muscle Trunk	muscle
30	chr11:57514800-57528600	Weak transcription	NH-A	brain
31	chr11:57514800-57528800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr11:57514800-57528800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr11:57514800-57528800	Weak transcription	Brain Angular Gyrus	brain
34	chr11:57514800-57528800	Weak transcription	Brain Germinal Matrix	brain
35	chr11:57514800-57528800	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr11:57514800-57529200	Weak transcription	Lung	lung
37	chr11:57514800-57529200	Weak transcription	Thymus	Thymus
38	chr11:57515000-57528600	Weak transcription	Fetal Muscle Leg	muscle
39	chr11:57515000-57528800	Weak transcription	Stomach Smooth Muscle	stomach
40	chr11:57515200-57528800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr11:57515400-57528600	Weak transcription	Fetal Stomach	stomach
42	chr11:57516000-57528800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr11:57516400-57523600	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr11:57516600-57528800	Weak transcription	Primary B cells from cord blood	blood
45	chr11:57516600-57528800	Weak transcription	Brain Anterior Caudate	brain
46	chr11:57516600-57529200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr11:57516800-57528800	Weak transcription	Fetal Kidney	kidney
48	chr11:57516800-57528800	Weak transcription	Fetal Thymus	thymus
49	chr11:57517200-57528800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:57518800-57528600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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