Variant report

Variant	rs7115759
Chromosome Location	chr11:93412826-93412827
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:93410711..93413098-chr11:93461356..93464039,2	K562	blood:
2	chr11:93411598..93413921-chr11:93461274..93464039,2	K562	blood:
3	chr11:93411484..93414482-chr11:93427113..93428833,2	K562	blood:
4	chr11:93403553..93406233-chr11:93412548..93415297,2	K562	blood:
5	chr11:93411054..93413899-chr11:93422766..93424907,2	K562	blood:

Variant related genes	Relation type
ENSG00000166004	Chromatin interaction
ENSG00000207112	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11822585	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1807990	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1939573	0.87[EUR][1000 genomes]
rs2077408	0.83[ASN][1000 genomes]
rs4753482	0.81[EUR][1000 genomes]
rs4753483	0.81[EUR][1000 genomes]
rs58018625	0.82[EUR][1000 genomes]
rs58172303	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58671261	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59031514	0.84[ASN][1000 genomes]
rs61743303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66460850	0.84[ASN][1000 genomes]
rs67112133	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67182840	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67257421	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67310816	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67437695	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67749053	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67769616	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67773478	0.87[EUR][1000 genomes]
rs67879380	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7109236	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7131178	0.94[CHB][hapmap];0.87[JPT][hapmap]
rs72643380	0.89[ASN][1000 genomes]
rs7930516	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7937500	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7939577	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7940754	0.86[CEU][hapmap];0.81[EUR][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	nsv898181	chr11:93072843-93662459	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv898182	chr11:93381845-93637462	Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
3	nsv832232	chr11:93401314-93549438	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7115759	MED17	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93395400-93417800	Weak transcription	Small Intestine	intestine
2	chr11:93395600-93417400	Weak transcription	Stomach Mucosa	stomach
3	chr11:93395600-93446800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr11:93395800-93413200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:93395800-93413400	Weak transcription	Right Ventricle	heart
6	chr11:93395800-93415800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr11:93396400-93417600	Weak transcription	Fetal Heart	heart
8	chr11:93396600-93413200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr11:93396600-93417600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr11:93396800-93413200	Weak transcription	NHLF	lung
11	chr11:93396800-93415200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr11:93397400-93441400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr11:93397600-93416400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr11:93397600-93441000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:93397800-93416200	Weak transcription	Fetal Brain Male	brain
16	chr11:93398000-93426200	Strong transcription	Hela-S3	cervix
17	chr11:93398600-93426000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr11:93398800-93414000	Strong transcription	Fetal Thymus	thymus
19	chr11:93398800-93440800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr11:93398800-93442200	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr11:93398800-93443200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr11:93399000-93426200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr11:93399000-93426200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr11:93399200-93439800	Strong transcription	Dnd41	blood
25	chr11:93399600-93414800	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr11:93399600-93415400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr11:93399600-93418600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr11:93399600-93418800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr11:93399800-93418800	Strong transcription	Adipose Nuclei	Adipose
30	chr11:93399800-93422200	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr11:93399800-93422400	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr11:93399800-93442200	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr11:93400000-93414000	Strong transcription	Liver	Liver
34	chr11:93400000-93414400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr11:93400200-93414200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr11:93400200-93414400	Strong transcription	HSMM	muscle
37	chr11:93400400-93443200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr11:93400400-93445600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr11:93400600-93414400	Strong transcription	Primary B cells from cord blood	blood
40	chr11:93400800-93414400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr11:93400800-93414400	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr11:93400800-93419000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr11:93401000-93423400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr11:93403200-93415800	Weak transcription	Brain Cingulate Gyrus	brain
45	chr11:93403800-93417800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr11:93404800-93415800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr11:93405000-93415600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr11:93405000-93416000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr11:93407400-93415200	Strong transcription	HUVEC	blood vessel
50	chr11:93407600-93414000	Strong transcription	Duodenum Smooth Muscle	Duodenum

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