Variant report

Variant	rs674886
Chromosome Location	chr11:93549671-93549672
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:93549611..93555766-chr11:93556424..93562226,8	K562	blood:
2	chr11:93544820..93547315-chr11:93548185..93551006,2	K562	blood:

Variant related genes	Relation type
ENSG00000206911	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1150326	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34057693	0.90[EUR][1000 genomes]
rs3763808	0.87[EUR][1000 genomes]
rs55734929	0.86[EUR][1000 genomes]
rs598495	0.82[EUR][1000 genomes]
rs602703	0.85[ASN][1000 genomes]
rs606087	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61498836	0.83[EUR][1000 genomes]
rs615428	0.91[EUR][1000 genomes]
rs61904953	0.90[EUR][1000 genomes]
rs61904957	0.87[EUR][1000 genomes]
rs625359	0.84[ASN][1000 genomes]
rs628665	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs631261	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs634325	0.81[ASN][1000 genomes]
rs654896	0.92[EUR][1000 genomes]
rs664257	0.82[EUR][1000 genomes]
rs66483735	0.81[EUR][1000 genomes]
rs66487029	0.90[EUR][1000 genomes]
rs666074	0.86[ASN][1000 genomes]
rs66760087	0.90[EUR][1000 genomes]
rs66797025	0.81[EUR][1000 genomes]
rs669565	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs670391	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs67594435	0.90[EUR][1000 genomes]
rs676586	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67681709	0.81[EUR][1000 genomes]
rs677019	0.92[EUR][1000 genomes]
rs67734074	0.87[EUR][1000 genomes]
rs679241	0.92[EUR][1000 genomes]
rs687042	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs687507	0.85[ASN][1000 genomes]
rs72976543	0.81[EUR][1000 genomes]
rs72976568	0.81[EUR][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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs674886	MED17	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93520200-93551000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:93520600-93551000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr11:93521000-93550800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr11:93521200-93549800	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr11:93521400-93551200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr11:93521800-93551000	Strong transcription	Rectal Mucosa Donor 31	rectum
7	chr11:93531200-93550400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:93533000-93555600	Weak transcription	Small Intestine	intestine
9	chr11:93534600-93550800	Strong transcription	Primary hematopoietic stem cells	blood
10	chr11:93535200-93549800	Strong transcription	Fetal Stomach	stomach
11	chr11:93538800-93551000	Strong transcription	Fetal Muscle Trunk	muscle
12	chr11:93543000-93550400	Weak transcription	Pancreas	Pancrea
13	chr11:93543000-93551800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr11:93543000-93552200	Weak transcription	Esophagus	oesophagus
15	chr11:93543000-93553200	Weak transcription	Aorta	Aorta
16	chr11:93543000-93554400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr11:93544400-93550800	Weak transcription	Stomach Mucosa	stomach
18	chr11:93544600-93552800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:93546200-93550400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr11:93546200-93550400	Weak transcription	Right Ventricle	heart
21	chr11:93546200-93551800	Weak transcription	Gastric	stomach
22	chr11:93546200-93552200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr11:93546200-93553200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr11:93546400-93553000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr11:93546400-93553600	Weak transcription	HepG2	liver
26	chr11:93546400-93554200	Weak transcription	Colonic Mucosa	Colon
27	chr11:93546400-93566200	Weak transcription	Brain Angular Gyrus	brain
28	chr11:93546600-93552400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr11:93546600-93554200	Weak transcription	K562	blood
30	chr11:93547000-93550800	Weak transcription	Colon Smooth Muscle	Colon
31	chr11:93547200-93550400	Weak transcription	Fetal Brain Female	brain
32	chr11:93547400-93553400	Weak transcription	Ovary	ovary
33	chr11:93547600-93550400	Weak transcription	HMEC	breast
34	chr11:93547600-93551000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr11:93547600-93552200	Weak transcription	NHEK	skin
36	chr11:93547800-93550800	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr11:93547800-93551000	Weak transcription	Hela-S3	cervix
38	chr11:93547800-93552800	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr11:93547800-93553600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr11:93547800-93553600	Weak transcription	HSMMtube	muscle
41	chr11:93547800-93554200	Weak transcription	Brain Cingulate Gyrus	brain
42	chr11:93547800-93554400	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr11:93548000-93552600	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr11:93548000-93555800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr11:93548200-93552000	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr11:93548200-93552800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr11:93548200-93553600	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr11:93548400-93550000	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr11:93548400-93550000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr11:93548400-93551000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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