Variant report

Variant	rs7715909
Chromosome Location	chr5:57555687-57555688
allele	A/C
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:57550054..57551732-chr5:57553774..57557457,3	K562	blood:
2	chr5:57531620..57533585-chr5:57553744..57556130,2	MCF-7	breast:
3	chr5:57482131..57485678-chr5:57554046..57557182,5	MCF-7	breast:
4	chr5:57546757..57549531-chr5:57552284..57556177,4	MCF-7	breast:
5	chr5:57551727..57557881-chr5:57751726..57757187,9	MCF-7	breast:
6	chr5:57553683..57556320-chr5:57556923..57559469,3	MCF-7	breast:
7	chr5:57553536..57556295-chr5:57753554..57756650,6	MCF-7	breast:
8	chr5:57555431..57557265-chr5:57747866..57749684,2	MCF-7	breast:
9	chr5:57554637..57557710-chr5:57746924..57749357,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000145632	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs151807	0.87[JPT][hapmap]
rs151914	0.81[JPT][hapmap]
rs1562242	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs181764	0.81[JPT][hapmap]
rs1862540	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs190304	0.82[JPT][hapmap]
rs1972647	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2409006	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs245481	0.81[JPT][hapmap]
rs245491	0.81[JPT][hapmap]
rs246113	0.87[MEX][hapmap]
rs2910578	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2910579	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2910581	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2910586	0.86[EUR][1000 genomes]
rs2910606	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2962007	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2962025	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2964190	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2964192	0.87[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.98[GIH][hapmap];0.90[JPT][hapmap];0.87[MKK][hapmap];0.91[TSI][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2964194	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2964196	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2964197	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2964198	0.87[ASW][hapmap];0.84[TSI][hapmap]
rs2964201	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs37489	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs37491	0.87[ASW][hapmap];0.85[CEU][hapmap];0.87[LWK][hapmap];0.80[MKK][hapmap];0.91[TSI][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs37511	0.82[AMR][1000 genomes]
rs37513	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs37514	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs37515	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs37517	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs37518	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.95[MEX][hapmap];0.88[MKK][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs37525	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs37529	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs37530	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs37535	0.81[JPT][hapmap]
rs37537	0.81[JPT][hapmap]
rs40531	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41385	0.89[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs42964	0.81[JPT][hapmap]
rs466047	0.85[ASN][1000 genomes]
rs972060	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs972061	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[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	esv3489100	chr5:57545689-57669673	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	esv3489101	chr5:57545689-57669673	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57552600-57557400	Weak transcription	Aorta	Aorta
2	chr5:57553800-57556400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr5:57554200-57556600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:57554400-57556800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:57554400-57557800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr5:57554600-57556000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:57554800-57556000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:57554800-57556200	Enhancers	H1 Cell Line	embryonic stem cell
9	chr5:57555000-57556200	Flanking Active TSS	HMEC	breast
10	chr5:57555000-57556600	Enhancers	NHDF-Ad	bronchial
11	chr5:57555200-57555800	Enhancers	Pancreas	Pancrea
12	chr5:57555200-57555800	Enhancers	Psoas Muscle	Psoas
13	chr5:57555200-57556000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr5:57555200-57556000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr5:57555200-57556000	Enhancers	Fetal Muscle Leg	muscle
16	chr5:57555200-57556000	Enhancers	Left Ventricle	heart
17	chr5:57555200-57556000	Flanking Active TSS	HUVEC	blood vessel
18	chr5:57555200-57556000	Flanking Active TSS	NHEK	skin
19	chr5:57555200-57556200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr5:57555200-57556200	Flanking Active TSS	Hela-S3	cervix
21	chr5:57555200-57556200	Flanking Active TSS	Osteobl	bone
22	chr5:57555200-57556400	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr5:57555200-57556400	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr5:57555200-57556400	Enhancers	Placenta Amnion	Placenta Amnion
25	chr5:57555400-57555800	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr5:57555400-57555800	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr5:57555400-57555800	Enhancers	Stomach Smooth Muscle	stomach
28	chr5:57555400-57556200	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr5:57555400-57556200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr5:57555400-57556200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr5:57555400-57556200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr5:57555400-57556200	Enhancers	HSMMtube	muscle
33	chr5:57555400-57556200	Flanking Active TSS	NH-A	brain
34	chr5:57555600-57555800	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr5:57555600-57555800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr5:57555600-57555800	Enhancers	Fetal Stomach	stomach
37	chr5:57555600-57555800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr5:57555600-57556000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr5:57555600-57556000	Enhancers	Placenta	Placenta
40	chr5:57555600-57556000	Enhancers	Ovary	ovary
41	chr5:57555600-57556000	Enhancers	Right Atrium	heart
42	chr5:57555600-57556000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr5:57555600-57556000	Active TSS	A549	lung
44	chr5:57555600-57556000	Flanking Active TSS	HSMM	muscle
45	chr5:57555600-57556000	Flanking Active TSS	NHLF	lung
46	chr5:57555600-57556200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr5:57555600-57556200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr5:57555600-57556200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr5:57555600-57556200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr5:57555600-57557000	Weak transcription	Duodenum Smooth Muscle	Duodenum

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