Variant report

Variant	rs2057457
Chromosome Location	chr9:95639094-95639095
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	chr9:95630407..95632096-chr9:95638470..95640204,2	K562	blood:
2	chr9:95570373..95571952-chr9:95637590..95640500,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000187984	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10124671	0.85[CHB][hapmap];0.85[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1040978	1.00[CEU][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10733745	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10739930	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10739931	1.00[CEU][hapmap];0.94[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10739935	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10761174	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10821019	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13301210	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4110696	0.82[EUR][1000 genomes]
rs4465027	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4744153	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs6479432	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6479433	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7038387	0.92[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7040331	0.84[EUR][1000 genomes]
rs7860417	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7868874	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7875611	0.81[EUR][1000 genomes]
rs965654	1.00[CEU][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[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	nsv831654	chr9:95542920-95720961	ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv893574	chr9:95580376-95688099	Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95609000-95639800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:95616200-95639800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr9:95616400-95639800	Weak transcription	Small Intestine	intestine
4	chr9:95616600-95639600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr9:95618200-95639800	Weak transcription	Colonic Mucosa	Colon
6	chr9:95622600-95639400	Weak transcription	HSMMtube	muscle
7	chr9:95622600-95639600	Weak transcription	Fetal Kidney	kidney
8	chr9:95622600-95639800	Weak transcription	Aorta	Aorta
9	chr9:95623200-95639400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr9:95623600-95639200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr9:95625600-95639600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr9:95628200-95639800	Weak transcription	Right Atrium	heart
13	chr9:95630600-95639400	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr9:95630600-95639600	Weak transcription	Liver	Liver
15	chr9:95631000-95639400	Weak transcription	Brain Hippocampus Middle	brain
16	chr9:95631000-95639400	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr9:95631000-95639600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr9:95631200-95639600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr9:95631200-95639800	Weak transcription	Placenta	Placenta
20	chr9:95631400-95639800	Weak transcription	Fetal Muscle Trunk	muscle
21	chr9:95631800-95639600	Weak transcription	Primary B cells from peripheral blood	blood
22	chr9:95633200-95639200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr9:95633200-95639400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr9:95633200-95639400	Weak transcription	Fetal Intestine Large	intestine
25	chr9:95633200-95639400	Weak transcription	Fetal Stomach	stomach
26	chr9:95633200-95639400	Weak transcription	Stomach Smooth Muscle	stomach
27	chr9:95633200-95639600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr9:95633200-95639600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr9:95633200-95639600	Weak transcription	Adipose Nuclei	Adipose
30	chr9:95633200-95639800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr9:95633200-95639800	Weak transcription	Left Ventricle	heart
32	chr9:95633200-95639800	Weak transcription	Lung	lung
33	chr9:95633200-95639800	Weak transcription	Thymus	Thymus
34	chr9:95633400-95639400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr9:95633400-95639600	Weak transcription	Fetal Thymus	thymus
36	chr9:95633400-95639800	Weak transcription	Fetal Intestine Small	intestine
37	chr9:95634200-95639400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr9:95634200-95639400	Weak transcription	Fetal Muscle Leg	muscle
39	chr9:95634400-95639400	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr9:95634400-95639600	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr9:95634400-95639600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr9:95635000-95639600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr9:95635000-95639800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr9:95635600-95639400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr9:95635800-95639400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr9:95636600-95639600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr9:95636600-95639800	Weak transcription	HSMM	muscle
48	chr9:95637000-95639600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr9:95637200-95639200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr9:95637200-95639400	Enhancers	Fetal Brain Male	brain

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