Variant report

Variant	rs615428
Chromosome Location	chr11:93520294-93520295
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:93462890..93477443-chr11:93512595..93526939,73	K562	blood:
2	chr11:93472800..93476056-chr11:93515203..93522725,16	MCF-7	breast:
3	chr11:93459100..93466497-chr11:93514555..93520746,14	K562	blood:

Variant related genes	Relation type
ENSG00000166012	Chromatin interaction
ENSG00000239195	Chromatin interaction
ENSG00000206834	Chromatin interaction
ENSG00000207112	Chromatin interaction
ENSG00000207304	Chromatin interaction
ENSG00000202314	Chromatin interaction
ENSG00000210825	Chromatin interaction
ENSG00000221170	Chromatin interaction
ENSG00000207145	Chromatin interaction
ENSG00000206799	Chromatin interaction
ENSG00000182919	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10765635	0.85[ASN][1000 genomes]
rs1150326	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1298531	0.82[ASN][1000 genomes]
rs2077408	0.81[EUR][1000 genomes]
rs34057693	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3763808	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55734929	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs584084	0.82[ASN][1000 genomes]
rs598495	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs601792	0.82[ASN][1000 genomes]
rs606087	0.93[EUR][1000 genomes]
rs61498836	0.86[EUR][1000 genomes]
rs61904953	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61904957	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61906576	0.80[ASN][1000 genomes]
rs625685	0.82[ASN][1000 genomes]
rs626216	0.80[ASN][1000 genomes]
rs628665	0.93[EUR][1000 genomes]
rs636482	0.82[ASN][1000 genomes]
rs654896	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs664257	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66460850	0.81[EUR][1000 genomes]
rs66483735	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66487029	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs66760087	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs66797025	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66887806	0.80[ASN][1000 genomes]
rs669565	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs670391	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs674886	0.91[EUR][1000 genomes]
rs67594435	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs676586	0.93[EUR][1000 genomes]
rs67681709	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs677019	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67734074	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs679241	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs687042	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72976543	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72976568	0.84[EUR][1000 genomes];0.93[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	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
rs615428	MED17	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93516800-93520400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:93517600-93520800	Transcr. at gene 5' and 3'	Dnd41	blood
3	chr11:93517800-93520400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
4	chr11:93518200-93520400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr11:93518600-93520400	Enhancers	Pancreas	Pancrea
6	chr11:93518600-93520400	Genic enhancers	Sigmoid Colon	Sigmoid Colon
7	chr11:93518600-93520600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr11:93518600-93520800	Enhancers	Small Intestine	intestine
9	chr11:93518600-93527800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr11:93518800-93520400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr11:93518800-93520800	Transcr. at gene 5' and 3'	Hela-S3	cervix
12	chr11:93518800-93521400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:93519000-93520400	Enhancers	Primary B cells from peripheral blood	blood
14	chr11:93519000-93520400	Enhancers	Adipose Nuclei	Adipose
15	chr11:93519000-93520400	Flanking Active TSS	Brain Germinal Matrix	brain
16	chr11:93519000-93520400	Genic enhancers	Fetal Intestine Small	intestine
17	chr11:93519000-93520400	Genic enhancers	Fetal Muscle Leg	muscle
18	chr11:93519000-93520600	Enhancers	Primary T cells fromperipheralblood	blood
19	chr11:93519000-93520800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:93519000-93520800	Enhancers	Fetal Heart	heart
21	chr11:93519000-93521400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr11:93519200-93520400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr11:93519200-93520400	Enhancers	Primary hematopoietic stem cells	blood
24	chr11:93519200-93520400	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr11:93519200-93520400	Enhancers	Left Ventricle	heart
26	chr11:93519200-93520400	Enhancers	Lung	lung
27	chr11:93519200-93520400	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr11:93519200-93520400	Enhancers	Thymus	Thymus
29	chr11:93519200-93520400	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr11:93519200-93520800	Enhancers	Rectal Smooth Muscle	rectum
31	chr11:93519200-93521000	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr11:93519200-93521400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr11:93519200-93521400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr11:93519200-93522400	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr11:93519200-93522600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr11:93519200-93522800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr11:93519200-93522800	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr11:93519200-93522800	Weak transcription	Gastric	stomach
39	chr11:93519200-93522800	Weak transcription	HSMMtube	muscle
40	chr11:93519200-93523800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr11:93519200-93523800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr11:93519200-93527800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr11:93519200-93527800	Weak transcription	Esophagus	oesophagus
44	chr11:93519200-93542800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr11:93519600-93520800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr11:93519600-93520800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr11:93519600-93520800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr11:93519600-93521200	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr11:93519600-93521200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr11:93519600-93521400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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