Variant report

Variant	rs6975745
Chromosome Location	chr7:47885661-47885662
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	chr7:47884198..47887290-chr7:48007408..48010423,4	MCF-7	breast:
2	chr7:47885633..47887490-chr7:47888124..47890884,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10245949	0.96[CEU][hapmap]
rs10280228	0.88[YRI][hapmap]
rs1074780	0.85[CHB][hapmap]
rs12670579	0.96[CEU][hapmap]
rs12673502	0.81[JPT][hapmap]
rs13228166	1.00[CHB][hapmap];0.84[YRI][hapmap];0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs13237611	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1551275	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17710832	0.93[CEU][hapmap]
rs1980279	0.96[CEU][hapmap];0.81[CHB][hapmap];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2123608	0.93[CEU][hapmap]
rs2123609	0.81[JPT][hapmap]
rs2177164	0.93[CEU][hapmap]
rs3757379	0.93[CEU][hapmap];0.81[CHB][hapmap]
rs3800568	0.96[CEU][hapmap]
rs4543454	0.96[CEU][hapmap]
rs4724647	0.85[CHB][hapmap]
rs6463451	0.91[CEU][hapmap]
rs6947216	0.96[CEU][hapmap]
rs6960513	0.96[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6967514	0.86[CHB][hapmap];0.81[JPT][hapmap];0.84[YRI][hapmap];0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6968437	0.93[CEU][hapmap];0.81[CHB][hapmap]
rs7783295	0.96[CEU][hapmap]
rs7783894	0.93[CEU][hapmap]
rs876467	0.96[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9639016	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9639987	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026223	chr7:47560728-48243287	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv888003	chr7:47694270-47907214	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv869585	chr7:47765428-48151324	Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv830991	chr7:47854530-48025996	Weak transcription Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv532120	chr7:47882757-48195869	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:47855800-47902400	Weak transcription	Adipose Nuclei	Adipose
2	chr7:47867200-47886000	Weak transcription	Right Atrium	heart
3	chr7:47867800-47886000	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr7:47868800-47886000	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr7:47882600-47886000	Weak transcription	Gastric	stomach
6	chr7:47883200-47886000	Enhancers	Hela-S3	cervix
7	chr7:47883400-47885800	Enhancers	Fetal Heart	heart
8	chr7:47883600-47885800	Enhancers	A549	lung
9	chr7:47884400-47887200	Enhancers	HUVEC	blood vessel
10	chr7:47884800-47886000	Weak transcription	Lung	lung
11	chr7:47884800-47886400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr7:47884800-47887000	Enhancers	HSMM	muscle
13	chr7:47885200-47886200	Weak transcription	Right Ventricle	heart
14	chr7:47885200-47886400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr7:47885400-47885800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr7:47885400-47885800	Weak transcription	Left Ventricle	heart
17	chr7:47885400-47886200	Enhancers	NHDF-Ad	bronchial
18	chr7:47885400-47886400	Enhancers	HSMMtube	muscle
19	chr7:47885400-47886600	Enhancers	NHEK	skin
20	chr7:47885400-47886800	Enhancers	Muscle Satellite Cultured Cells	--
21	chr7:47885400-47887000	Enhancers	NHLF	lung
22	chr7:47885400-47887200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr7:47885600-47886200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:47885600-47886200	Enhancers	Osteobl	bone
25	chr7:47885600-47886400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr7:47885600-47886400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr7:47885600-47886800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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