Variant report

Variant	rs17737955
Chromosome Location	chr2:86508014-86508015
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:86506964..86508906-chr2:86509472..86512092,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10186289	0.82[CEU][hapmap]
rs10189492	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10195199	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs10200186	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10200526	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10200619	0.86[CEU][hapmap]
rs10520415	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11127026	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11127028	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11127029	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11685863	0.85[CEU][hapmap]
rs11691122	1.00[ASN][1000 genomes]
rs12469233	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12472390	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12472676	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12476706	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12478575	0.92[CEU][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12478653	0.88[CEU][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12620833	0.92[CEU][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12622200	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12714178	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12714179	0.96[CEU][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12714180	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12999029	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13007807	0.86[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs13015186	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13017143	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13017338	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13018801	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13020869	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13023154	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13024964	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13421310	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17738096	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1863051	0.85[CEU][hapmap]
rs1863052	0.85[CEU][hapmap]
rs1863063	0.85[CEU][hapmap]
rs2278105	0.88[CEU][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2367233	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs34048420	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34069316	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35160687	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35281683	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35370705	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35762338	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6547674	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6713456	0.92[CEU][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6714362	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs67407963	0.87[AMR][1000 genomes]
rs6746198	0.86[CEU][hapmap]
rs67903513	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7422930	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs7563887	0.82[CEU][hapmap]
rs7571424	0.92[CEU][hapmap];0.80[EUR][1000 genomes]
rs7593440	0.86[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000441	chr2:86286314-86508168	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv535808	chr2:86286314-86508168	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv916616	chr2:86289130-86509326	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv1001157	chr2:86301440-86508168	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	esv3412938	chr2:86370969-86867936	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs17737955	IMMT	cis	Whole Blood	GTEx
rs17737955	IMMT	cis	Esophagus Muscularis	GTEx
rs17737955	MRPL35	Cis_1M	lymphoblastoid	RTeQTL
rs17737955	IMMT	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86499000-86510800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr2:86499200-86509600	Weak transcription	Aorta	Aorta
3	chr2:86500000-86517400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr2:86502800-86510400	Weak transcription	Hela-S3	cervix
5	chr2:86502800-86513600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:86503400-86508200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:86503400-86510800	Weak transcription	Colonic Mucosa	Colon
8	chr2:86503800-86510600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr2:86505800-86508200	Enhancers	Right Atrium	heart
10	chr2:86506200-86508400	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr2:86506200-86508600	Enhancers	Fetal Muscle Leg	muscle
12	chr2:86506200-86509200	Enhancers	Psoas Muscle	Psoas
13	chr2:86506200-86512400	Enhancers	Left Ventricle	heart
14	chr2:86506400-86508400	Genic enhancers	Brain Germinal Matrix	brain
15	chr2:86506400-86508400	Enhancers	Fetal Stomach	stomach
16	chr2:86506400-86509000	Genic enhancers	Fetal Brain Female	brain
17	chr2:86506600-86508400	Enhancers	Fetal Heart	heart
18	chr2:86506600-86508400	Enhancers	Rectal Smooth Muscle	rectum
19	chr2:86506600-86511800	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr2:86506800-86508400	Flanking Active TSS	Stomach Smooth Muscle	stomach
21	chr2:86506800-86508400	Enhancers	HSMMtube	muscle
22	chr2:86506800-86508600	Enhancers	Fetal Brain Male	brain
23	chr2:86506800-86513200	Enhancers	Colon Smooth Muscle	Colon
24	chr2:86507000-86508200	Enhancers	Duodenum Mucosa	Duodenum
25	chr2:86507000-86508800	Enhancers	Fetal Muscle Trunk	muscle
26	chr2:86507000-86509000	Enhancers	Fetal Lung	lung
27	chr2:86507200-86508200	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr2:86507200-86508400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:86507400-86508200	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr2:86507400-86508200	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr2:86507400-86509600	Weak transcription	Right Ventricle	heart
32	chr2:86507400-86510000	Weak transcription	Placenta	Placenta
33	chr2:86507600-86511000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr2:86507800-86508200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr2:86507800-86509800	Weak transcription	Fetal Intestine Large	intestine
36	chr2:86507800-86510800	Weak transcription	Esophagus	oesophagus
37	chr2:86508000-86508200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr2:86508000-86508200	Enhancers	HSMM	muscle
39	chr2:86508000-86509000	Strong transcription	Fetal Intestine Small	intestine
40	chr2:86508000-86510800	Weak transcription	Brain Angular Gyrus	brain
41	chr2:86508000-86511000	Weak transcription	Brain Anterior Caudate	brain
42	chr2:86508000-86520200	Weak transcription	Brain Cingulate Gyrus	brain

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