Variant report

Variant	rs17008495
Chromosome Location	chr2:73164008-73164009
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:73113562..73116065-chr2:73161529..73164202,2	K562	blood:
2	chr2:73162556..73166677-chr2:73167380..73171144,3	MCF-7	breast:
3	chr2:73162249..73166255-chr2:73168252..73172179,4	MCF-7	breast:
4	chr2:73160542..73162204-chr2:73163804..73165713,2	MCF-7	breast:
5	chr2:73154403..73156745-chr2:73162341..73165045,2	K562	blood:
6	chr2:73162864..73164721-chr2:73172732..73175710,2	K562	blood:
7	chr2:73119837..73121902-chr2:73162197..73164658,2	MCF-7	breast:
8	chr2:73163209..73165515-chr2:73180521..73182965,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000116096	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10185826	0.82[ASN][1000 genomes]
rs11126387	0.83[ASN][1000 genomes]
rs12473812	0.82[CHB][hapmap];0.85[ASN][1000 genomes]
rs12713779	0.95[CEU][hapmap];0.88[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1898442	0.82[CHB][hapmap];0.85[ASN][1000 genomes]
rs2077586	0.88[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2421097	0.86[JPT][hapmap]
rs34419497	0.85[ASN][1000 genomes]
rs56986198	0.85[ASN][1000 genomes]
rs6722190	0.90[CEU][hapmap];0.90[JPT][hapmap];0.92[YRI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs746212	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs999494	0.85[ASN][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	nsv532723	chr2:73088191-73219259	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv874266	chr2:73137991-73220138	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73159800-73169600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:73159800-73170600	Weak transcription	Aorta	Aorta
3	chr2:73160000-73166600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr2:73160200-73164200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:73161400-73210200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr2:73161800-73167200	Weak transcription	Spleen	Spleen
7	chr2:73162000-73167400	Weak transcription	Fetal Intestine Small	intestine
8	chr2:73162400-73164800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:73162600-73166200	Enhancers	Fetal Brain Male	brain
10	chr2:73162600-73167600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:73162600-73169400	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr2:73163000-73164600	Enhancers	Right Ventricle	heart
13	chr2:73163200-73164400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
14	chr2:73163200-73164400	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr2:73163200-73164800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:73163200-73164800	Enhancers	Brain Cingulate Gyrus	brain
17	chr2:73163200-73165000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr2:73163400-73164200	Enhancers	Colon Smooth Muscle	Colon
19	chr2:73163400-73164400	Enhancers	H1 Cell Line	embryonic stem cell
20	chr2:73163400-73164400	Enhancers	Brain Angular Gyrus	brain
21	chr2:73163400-73164400	Enhancers	Ovary	ovary
22	chr2:73163400-73164600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr2:73163600-73164200	Enhancers	Brain Hippocampus Middle	brain
24	chr2:73163600-73164200	Bivalent Enhancer	Fetal Stomach	stomach
25	chr2:73163600-73164200	Flanking Active TSS	Stomach Smooth Muscle	stomach
26	chr2:73163600-73164600	Flanking Active TSS	Fetal Brain Female	brain
27	chr2:73163600-73166800	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr2:73163800-73164400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
29	chr2:73163800-73169400	Weak transcription	Lung	lung
30	chr2:73163800-73170400	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr2:73164000-73164200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
32	chr2:73164000-73164200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr2:73164000-73164200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr2:73164000-73164200	Bivalent Enhancer	Fetal Muscle Leg	muscle
35	chr2:73164000-73164200	Bivalent Enhancer	Rectal Smooth Muscle	rectum
36	chr2:73164000-73164200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
37	chr2:73164000-73164400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr2:73164000-73164800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr2:73164000-73164800	Bivalent Enhancer	NHDF-Ad	bronchial
40	chr2:73164000-73165000	Enhancers	Esophagus	oesophagus
41	chr2:73164000-73171200	Weak transcription	Brain Germinal Matrix	brain

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