Variant report

Variant	rs17087414
Chromosome Location	chr4:57903421-57903422
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	chr4:57842421..57844216-chr4:57903330..57905315,2	K562	blood:
2	chr4:57898269..57900679-chr4:57902377..57904496,2	K562	blood:

Variant related genes	Relation type
ENSG00000047315	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10866440	0.87[JPT][hapmap]
rs10866441	0.87[JPT][hapmap]
rs1105434	0.87[JPT][hapmap]
rs1107675	0.82[CHB][hapmap];0.87[JPT][hapmap]
rs11727683	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11730321	0.80[JPT][hapmap]
rs11735158	0.85[ASN][1000 genomes]
rs11932673	0.81[CHB][hapmap];0.87[JPT][hapmap]
rs12500454	0.81[JPT][hapmap]
rs12511020	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1277287	0.87[JPT][hapmap]
rs13108245	0.87[JPT][hapmap]
rs1625691	0.87[JPT][hapmap]
rs17081937	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs17087317	1.00[CEU][hapmap];0.82[CHB][hapmap];0.87[JPT][hapmap]
rs17087411	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1713994	0.85[ASN][1000 genomes]
rs1718839	0.87[JPT][hapmap]
rs1877669	0.87[JPT][hapmap]
rs2228991	1.00[CEU][hapmap];0.82[CHB][hapmap];0.87[JPT][hapmap]
rs2412773	0.82[ASN][1000 genomes]
rs3000	0.87[JPT][hapmap]
rs3733306	1.00[CEU][hapmap];0.88[CHB][hapmap];0.80[JPT][hapmap]
rs3796528	1.00[CEU][hapmap];0.82[CHB][hapmap];0.87[JPT][hapmap]
rs3806745	1.00[CEU][hapmap];0.82[CHB][hapmap];0.87[JPT][hapmap]
rs41552420	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs41556916	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4865172	0.82[JPT][hapmap]
rs56182208	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56285301	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57469512	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6554398	0.87[JPT][hapmap]
rs6838948	0.87[JPT][hapmap]
rs6852110	0.86[JPT][hapmap]
rs73242631	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7661194	0.94[CHB][hapmap];0.82[CHD][hapmap];0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs7680734	0.87[JPT][hapmap]
rs781666	0.87[JPT][hapmap]
rs781668	0.87[JPT][hapmap]
rs9942208	0.82[CHB][hapmap];0.87[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57863400-57907800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:57889000-57910200	Weak transcription	Esophagus	oesophagus
3	chr4:57890400-57903600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:57890400-57905600	Strong transcription	Osteobl	bone
5	chr4:57892000-57904400	Weak transcription	Fetal Heart	heart
6	chr4:57892000-57906600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr4:57892000-57908200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr4:57892200-57908000	Weak transcription	Pancreas	Pancrea
9	chr4:57893800-57906600	Weak transcription	Spleen	Spleen
10	chr4:57893800-57908000	Weak transcription	Aorta	Aorta
11	chr4:57894800-57904400	Weak transcription	Hela-S3	cervix
12	chr4:57896600-57904200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr4:57896600-57905600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr4:57896800-57909200	Weak transcription	Psoas Muscle	Psoas
15	chr4:57897200-57904000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr4:57897800-57904200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr4:57897800-57904400	Weak transcription	K562	blood
18	chr4:57898000-57904400	Weak transcription	Brain Germinal Matrix	brain
19	chr4:57898000-57905400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr4:57898000-57909800	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr4:57898200-57904000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr4:57898200-57904000	Weak transcription	Brain Angular Gyrus	brain
23	chr4:57898200-57904400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr4:57898200-57904400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr4:57898200-57908000	Weak transcription	Fetal Lung	lung
26	chr4:57898200-57910000	Weak transcription	Lung	lung
27	chr4:57898400-57904400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr4:57898400-57905600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr4:57898400-57906800	Weak transcription	Colonic Mucosa	Colon
30	chr4:57898800-57904200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr4:57898800-57904400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr4:57898800-57905400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr4:57898800-57908000	Weak transcription	NHDF-Ad	bronchial
34	chr4:57898800-57917800	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr4:57899000-57904400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr4:57899000-57904400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr4:57899000-57904400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr4:57899200-57904400	Weak transcription	Brain Cingulate Gyrus	brain
39	chr4:57899200-57914600	Weak transcription	Brain Substantia Nigra	brain
40	chr4:57899400-57904000	Weak transcription	Brain Anterior Caudate	brain
41	chr4:57899400-57904000	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr4:57899400-57904200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr4:57899400-57904400	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr4:57899400-57904400	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr4:57899400-57905400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr4:57899400-57905600	Weak transcription	Placenta	Placenta
47	chr4:57899400-57909800	Weak transcription	Duodenum Mucosa	Duodenum
48	chr4:57899400-57925000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr4:57899600-57904000	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr4:57899600-57904200	Weak transcription	Duodenum Smooth Muscle	Duodenum

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