Variant report

Variant	rs62119422
Chromosome Location	chr2:9726599-9726600
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:9726208..9728149-chr2:9769859..9772795,3	MCF-7	breast:
2	chr2:9694383..9696402-chr2:9726543..9729250,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000271855	Chromatin interaction
ENSG00000151694	Chromatin interaction
ENSG00000134308	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10495571	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10495572	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10495573	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11676903	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11692112	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11694314	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16867083	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17362734	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17362839	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17362902	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17453675	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17453724	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17453752	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55883249	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56372340	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs57234614	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57407838	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60319753	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60726087	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62119391	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62119392	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62119393	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62119423	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62119428	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62119429	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62119431	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62119432	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62119433	0.88[AFR][1000 genomes]

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	nsv580915	chr2:9308148-9844178	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9696800-9767600	Weak transcription	Gastric	stomach
2	chr2:9697400-9729800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:9706000-9733600	Weak transcription	Pancreas	Pancrea
4	chr2:9706200-9727800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr2:9706200-9728000	Weak transcription	Psoas Muscle	Psoas
6	chr2:9706400-9734200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr2:9715000-9735200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:9716000-9730000	Weak transcription	Right Ventricle	heart
9	chr2:9717600-9734800	Weak transcription	Spleen	Spleen
10	chr2:9718000-9731600	Weak transcription	Fetal Heart	heart
11	chr2:9719200-9747800	Weak transcription	Lung	lung
12	chr2:9719400-9733600	Weak transcription	Right Atrium	heart
13	chr2:9719400-9734800	Weak transcription	Aorta	Aorta
14	chr2:9720000-9730200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:9720000-9730200	Strong transcription	Fetal Muscle Trunk	muscle
16	chr2:9720000-9731200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:9720000-9732000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr2:9720400-9733000	Strong transcription	NHDF-Ad	bronchial
19	chr2:9720400-9734200	Weak transcription	Small Intestine	intestine
20	chr2:9720400-9734800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:9720600-9728800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:9720600-9730000	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr2:9721200-9728600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:9721800-9732200	Strong transcription	Fetal Thymus	thymus
25	chr2:9722400-9729200	Strong transcription	HUVEC	blood vessel
26	chr2:9722800-9731400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr2:9722800-9732400	Strong transcription	Fetal Intestine Large	intestine
28	chr2:9722800-9732600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr2:9722800-9734600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr2:9723000-9727600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:9723000-9730400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:9723000-9730400	Strong transcription	HSMMtube	muscle
33	chr2:9723000-9730400	Strong transcription	Osteobl	bone
34	chr2:9723000-9732200	Strong transcription	Fetal Muscle Leg	muscle
35	chr2:9723000-9732600	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr2:9723000-9733200	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr2:9723200-9728200	Weak transcription	Fetal Stomach	stomach
38	chr2:9723200-9731200	Strong transcription	Fetal Brain Female	brain
39	chr2:9723400-9727000	Strong transcription	NHEK	skin
40	chr2:9723400-9728000	Strong transcription	Hela-S3	cervix
41	chr2:9723400-9728200	Weak transcription	Fetal Intestine Small	intestine
42	chr2:9723400-9728400	Strong transcription	HSMM	muscle
43	chr2:9723400-9730600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr2:9723400-9731000	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr2:9723400-9732200	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr2:9723400-9732200	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr2:9723400-9732200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr2:9723400-9732400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr2:9723400-9732400	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr2:9723400-9732400	Strong transcription	HMEC	breast

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