Variant report

Variant	rs670391
Chromosome Location	chr11:93526578-93526579
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:93516094..93517696-chr11:93525535..93527158,2	MCF-7	breast:
2	chr11:93462890..93477443-chr11:93512595..93526939,73	K562	blood:
3	chr11:93472354..93474057-chr11:93524242..93526809,2	K562	blood:

Variant related genes	Relation type
ENSG00000182919	Chromatin interaction
ENSG00000207145	Chromatin interaction
ENSG00000202314	Chromatin interaction
ENSG00000166012	Chromatin interaction
ENSG00000207112	Chromatin interaction
ENSG00000206834	Chromatin interaction
ENSG00000206799	Chromatin interaction
ENSG00000239195	Chromatin interaction
ENSG00000221170	Chromatin interaction
ENSG00000207304	Chromatin interaction
ENSG00000042429	Chromatin interaction
ENSG00000210825	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10765635	0.90[ASN][1000 genomes]
rs1150326	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1298531	0.87[ASN][1000 genomes]
rs16919444	0.80[ASN][1000 genomes]
rs2077408	0.87[EUR][1000 genomes]
rs34057693	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3763808	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55734929	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58063272	0.80[ASN][1000 genomes]
rs584084	0.87[ASN][1000 genomes]
rs58976781	0.80[ASN][1000 genomes]
rs598495	0.90[EUR][1000 genomes]
rs601792	0.87[ASN][1000 genomes]
rs606087	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61498836	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs615428	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61904953	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61904957	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61906576	0.85[ASN][1000 genomes]
rs61906579	0.83[ASN][1000 genomes]
rs625685	0.87[ASN][1000 genomes]
rs626216	0.85[ASN][1000 genomes]
rs628665	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs636482	0.87[ASN][1000 genomes]
rs654896	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs664257	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs66460850	0.87[EUR][1000 genomes]
rs66483735	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs66487029	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs66760087	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs66797025	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs66887806	0.85[ASN][1000 genomes]
rs669565	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66963387	0.80[ASN][1000 genomes]
rs674886	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs67594435	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs676586	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs67681709	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs677019	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67734074	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs679241	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs687042	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7114611	0.83[ASN][1000 genomes]
rs7115115	0.83[ASN][1000 genomes]
rs7119738	0.80[ASN][1000 genomes]
rs7125525	0.83[ASN][1000 genomes]
rs7125919	0.81[ASN][1000 genomes]
rs7126745	0.83[ASN][1000 genomes]
rs7129970	0.80[ASN][1000 genomes]
rs72976543	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72976568	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7814	0.81[EUR][1000 genomes]
rs7924366	0.80[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs670391	MED17	Cis_1M	lymphoblastoid	RTeQTL
rs670391	C11orf54	cis	Esophagus Mucosa	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93518600-93527800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:93519200-93527800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr11:93519200-93527800	Weak transcription	Esophagus	oesophagus
4	chr11:93519200-93542800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:93520000-93527000	Weak transcription	Colonic Mucosa	Colon
6	chr11:93520200-93549400	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr11:93520200-93551000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:93520400-93527800	Weak transcription	Right Ventricle	heart
9	chr11:93520400-93529600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr11:93520400-93529600	Weak transcription	Stomach Mucosa	stomach
11	chr11:93520400-93549200	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr11:93520400-93549400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:93520600-93540000	Weak transcription	Right Atrium	heart
14	chr11:93520600-93548200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr11:93520600-93551000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr11:93520800-93527000	Weak transcription	Fetal Heart	heart
17	chr11:93520800-93529400	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr11:93520800-93549000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
19	chr11:93520800-93549200	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr11:93520800-93549200	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr11:93520800-93549400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr11:93520800-93549400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr11:93520800-93549400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr11:93521000-93533000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr11:93521000-93533000	Strong transcription	Fetal Muscle Leg	muscle
26	chr11:93521000-93547800	Strong transcription	Hela-S3	cervix
27	chr11:93521000-93548600	Strong transcription	NH-A	brain
28	chr11:93521000-93549200	Strong transcription	Fetal Thymus	thymus
29	chr11:93521000-93549600	Strong transcription	Primary B cells from peripheral blood	blood
30	chr11:93521000-93549600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr11:93521000-93550800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr11:93521200-93527600	Strong transcription	NHEK	skin
33	chr11:93521200-93534000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr11:93521200-93540400	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr11:93521200-93547800	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr11:93521200-93548800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr11:93521200-93549200	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr11:93521200-93549200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr11:93521200-93549200	Strong transcription	Fetal Intestine Large	intestine
40	chr11:93521200-93549200	Strong transcription	Placenta	Placenta
41	chr11:93521200-93549200	Strong transcription	HUVEC	blood vessel
42	chr11:93521200-93549400	Strong transcription	Primary B cells from cord blood	blood
43	chr11:93521200-93549800	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr11:93521400-93530800	Strong transcription	NHDF-Ad	bronchial
45	chr11:93521400-93546000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr11:93521400-93547800	Strong transcription	H1 Cell Line	embryonic stem cell
47	chr11:93521400-93549000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr11:93521400-93549400	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr11:93521400-93549400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr11:93521400-93549400	Strong transcription	Liver	Liver

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