Variant report

Variant	rs687042
Chromosome Location	chr11:93529434-93529435
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:93529408-93530041	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:93472589..93476859-chr11:93528988..93534877,8	K562	blood:
2	chr11:93516606..93519025-chr11:93528430..93531862,4	MCF-7	breast:
3	chr11:93475019..93477218-chr11:93528354..93530806,2	K562	blood:

Variant related genes	Relation type
ENSG00000238437	TF binding region
MED17	TF binding region
RN7SL195P	TF binding region
ENSG00000042429	Chromatin interaction
ENSG00000166012	Chromatin interaction
ENSG00000182919	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10831102	0.81[ASN][1000 genomes]
rs11020522	0.84[CHB][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs11020533	0.84[ASN][1000 genomes]
rs1150326	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1428919	0.84[CHB][hapmap];0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs2077408	0.83[EUR][1000 genomes]
rs2848477	0.81[ASN][1000 genomes]
rs34057693	0.95[EUR][1000 genomes]
rs3763808	0.92[EUR][1000 genomes]
rs4753103	0.81[ASN][1000 genomes]
rs55734929	0.90[EUR][1000 genomes]
rs585713	0.93[JPT][hapmap]
rs586293	0.84[CHB][hapmap];0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs598376	0.81[ASN][1000 genomes]
rs598495	0.86[CEU][hapmap];0.87[EUR][1000 genomes]
rs601711	0.85[ASN][1000 genomes]
rs602703	0.92[ASN][1000 genomes]
rs606087	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[MKK][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61498836	0.88[EUR][1000 genomes]
rs615428	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61904953	0.95[EUR][1000 genomes]
rs61904957	0.92[EUR][1000 genomes]
rs622147	0.81[ASN][1000 genomes]
rs625249	0.84[CHB][hapmap];0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs625359	0.91[ASN][1000 genomes]
rs628665	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs631261	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs634325	0.88[ASN][1000 genomes]
rs640864	0.81[ASN][1000 genomes]
rs644009	0.84[CHB][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs652621	0.84[CHB][hapmap];0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs654896	0.86[CEU][hapmap];0.96[EUR][1000 genomes]
rs655158	0.84[CHB][hapmap];0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs655699	0.84[CHB][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs658181	0.93[JPT][hapmap]
rs658698	0.87[ASN][1000 genomes]
rs658797	0.81[ASN][1000 genomes]
rs664257	0.85[CEU][hapmap];0.87[EUR][1000 genomes]
rs66460850	0.83[EUR][1000 genomes]
rs66483735	0.86[EUR][1000 genomes]
rs66487029	0.95[EUR][1000 genomes]
rs666074	0.90[ASN][1000 genomes]
rs66760087	0.95[EUR][1000 genomes]
rs66797025	0.86[EUR][1000 genomes]
rs669565	0.93[CEU][hapmap];0.88[MKK][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs670391	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs673869	0.84[CHB][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs674886	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs675441	0.84[CHB][hapmap];0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs675501	0.81[ASN][1000 genomes]
rs67594435	0.95[EUR][1000 genomes]
rs676586	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[MKK][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67681709	0.86[EUR][1000 genomes]
rs677019	0.96[EUR][1000 genomes]
rs67734074	0.92[EUR][1000 genomes]
rs679241	0.96[EUR][1000 genomes]
rs687507	1.00[CHB][hapmap];0.86[JPT][hapmap];0.92[ASN][1000 genomes]
rs688634	0.81[ASN][1000 genomes]
rs72976543	0.86[EUR][1000 genomes]
rs72976568	0.86[EUR][1000 genomes]
rs7949505	0.94[CHB][hapmap];0.85[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
rs687042	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	chr11:93519200-93542800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:93520200-93549400	Strong transcription	HUES64 Cell Line	embryonic stem cell
3	chr11:93520200-93551000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:93520400-93529600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr11:93520400-93529600	Weak transcription	Stomach Mucosa	stomach
6	chr11:93520400-93549200	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr11:93520400-93549400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr11:93520600-93540000	Weak transcription	Right Atrium	heart
9	chr11:93520600-93548200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr11:93520600-93551000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:93520800-93549000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
12	chr11:93520800-93549200	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr11:93520800-93549200	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr11:93520800-93549400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr11:93520800-93549400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr11:93520800-93549400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr11:93521000-93533000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr11:93521000-93533000	Strong transcription	Fetal Muscle Leg	muscle
19	chr11:93521000-93547800	Strong transcription	Hela-S3	cervix
20	chr11:93521000-93548600	Strong transcription	NH-A	brain
21	chr11:93521000-93549200	Strong transcription	Fetal Thymus	thymus
22	chr11:93521000-93549600	Strong transcription	Primary B cells from peripheral blood	blood
23	chr11:93521000-93549600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr11:93521000-93550800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr11:93521200-93534000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr11:93521200-93540400	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr11:93521200-93547800	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr11:93521200-93548800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr11:93521200-93549200	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr11:93521200-93549200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr11:93521200-93549200	Strong transcription	Fetal Intestine Large	intestine
32	chr11:93521200-93549200	Strong transcription	Placenta	Placenta
33	chr11:93521200-93549200	Strong transcription	HUVEC	blood vessel
34	chr11:93521200-93549400	Strong transcription	Primary B cells from cord blood	blood
35	chr11:93521200-93549800	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr11:93521400-93530800	Strong transcription	NHDF-Ad	bronchial
37	chr11:93521400-93546000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr11:93521400-93547800	Strong transcription	H1 Cell Line	embryonic stem cell
39	chr11:93521400-93549000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr11:93521400-93549400	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr11:93521400-93549400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr11:93521400-93549400	Strong transcription	Liver	Liver
43	chr11:93521400-93549400	Strong transcription	Duodenum Mucosa	Duodenum
44	chr11:93521400-93549600	Strong transcription	Adipose Nuclei	Adipose
45	chr11:93521400-93551200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr11:93521600-93533000	Strong transcription	Primary hematopoietic stem cells	blood
47	chr11:93521600-93536400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
48	chr11:93521600-93536400	Strong transcription	Fetal Muscle Trunk	muscle
49	chr11:93521600-93549400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr11:93521800-93533600	Strong transcription	Fetal Brain Female	brain

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