Variant report

Variant	rs17362734
Chromosome Location	chr2:9730208-9730209
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:9730159..9735372-chr2:9781969..9785269,4	K562	blood:
2	chr2:9729625..9733750-chr2:9734391..9737280,4	K562	blood:
3	chr2:9729940..9731942-chr2:9735786..9737660,2	MCF-7	breast:
4	chr2:9683590..9686533-chr2:9728369..9731306,2	K562	blood:
5	chr2:9728061..9730282-chr2:9768786..9771386,2	K562	blood:
6	chr2:9729553..9733750-chr2:9733992..9737827,4	K562	blood:
7	chr2:9728687..9732312-chr2:9769303..9771516,5	MCF-7	breast:
8	chr2:9729206..9731620-chr2:9742153..9744799,2	K562	blood:

Variant related genes	Relation type
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	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10495572	0.95[CEU][hapmap];1.00[CHB][hapmap];0.87[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10495573	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11676903	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11692112	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11694314	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16867083	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17362839	0.95[CEU][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17362902	1.00[CEU][hapmap];0.87[YRI][hapmap];0.96[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17453675	0.95[CEU][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17453724	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17453752	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[YRI][hapmap];0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55883249	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56372340	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs57234614	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57407838	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60319753	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60726087	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62119391	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62119392	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62119393	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62119422	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62119423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62119428	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62119429	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62119431	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62119432	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62119433	0.96[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	chr2:9706000-9733600	Weak transcription	Pancreas	Pancrea
3	chr2:9706400-9734200	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr2:9715000-9735200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:9717600-9734800	Weak transcription	Spleen	Spleen
6	chr2:9718000-9731600	Weak transcription	Fetal Heart	heart
7	chr2:9719200-9747800	Weak transcription	Lung	lung
8	chr2:9719400-9733600	Weak transcription	Right Atrium	heart
9	chr2:9719400-9734800	Weak transcription	Aorta	Aorta
10	chr2:9720000-9731200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:9720000-9732000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr2:9720400-9733000	Strong transcription	NHDF-Ad	bronchial
13	chr2:9720400-9734200	Weak transcription	Small Intestine	intestine
14	chr2:9720400-9734800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:9721800-9732200	Strong transcription	Fetal Thymus	thymus
16	chr2:9722800-9731400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:9722800-9732400	Strong transcription	Fetal Intestine Large	intestine
18	chr2:9722800-9732600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:9722800-9734600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:9723000-9730400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:9723000-9730400	Strong transcription	HSMMtube	muscle
22	chr2:9723000-9730400	Strong transcription	Osteobl	bone
23	chr2:9723000-9732200	Strong transcription	Fetal Muscle Leg	muscle
24	chr2:9723000-9732600	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr2:9723000-9733200	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr2:9723200-9731200	Strong transcription	Fetal Brain Female	brain
27	chr2:9723400-9730600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:9723400-9731000	Strong transcription	Muscle Satellite Cultured Cells	--
29	chr2:9723400-9732200	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr2:9723400-9732200	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr2:9723400-9732200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr2:9723400-9732400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr2:9723400-9732400	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr2:9723400-9732400	Strong transcription	HMEC	breast
35	chr2:9723400-9732600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr2:9723400-9732600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr2:9723400-9733400	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr2:9723400-9736200	Strong transcription	Dnd41	blood
39	chr2:9723600-9730400	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr2:9723600-9730400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr2:9723600-9730400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr2:9723600-9730400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr2:9723600-9730600	Strong transcription	Brain Germinal Matrix	brain
44	chr2:9723600-9730600	Strong transcription	NHLF	lung
45	chr2:9723600-9731000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr2:9723600-9731000	Strong transcription	NH-A	brain
47	chr2:9723600-9731200	Strong transcription	Primary B cells from peripheral blood	blood
48	chr2:9723600-9731800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr2:9723600-9731800	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr2:9723600-9732000	Strong transcription	Adipose Nuclei	Adipose

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