Variant report

Variant	rs6975175
Chromosome Location	chr7:86860332-86860333
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	chr7:86854126..86856012-chr7:86859259..86861764,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1011952	0.84[EUR][1000 genomes]
rs1011953	0.84[EUR][1000 genomes]
rs10244350	0.87[YRI][hapmap]
rs10245036	0.94[CEU][hapmap];0.95[EUR][1000 genomes]
rs10263920	0.94[CEU][hapmap];0.87[EUR][1000 genomes]
rs10273826	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10273853	0.92[YRI][hapmap]
rs1058972	0.94[CEU][hapmap];0.87[EUR][1000 genomes]
rs1558050	0.94[CEU][hapmap];0.88[EUR][1000 genomes]
rs1574795	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2106955	0.84[EUR][1000 genomes]
rs2286267	0.94[CEU][hapmap];0.85[EUR][1000 genomes]
rs35015367	0.82[ASN][1000 genomes]
rs3810883	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs4236504	0.94[CEU][hapmap];0.85[EUR][1000 genomes]
rs4400318	0.87[AFR][1000 genomes]
rs4728685	0.87[EUR][1000 genomes]
rs6465099	0.93[EUR][1000 genomes]
rs6465100	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6942407	0.93[ASN][1000 genomes]
rs6942878	0.85[EUR][1000 genomes]
rs6948007	0.82[JPT][hapmap]
rs6952384	0.83[AFR][1000 genomes]
rs6952842	0.87[EUR][1000 genomes]
rs6957785	0.94[CEU][hapmap];0.85[EUR][1000 genomes]
rs6968640	0.83[YRI][hapmap]
rs6975202	0.87[AFR][1000 genomes]
rs6978590	0.94[CEU][hapmap];0.94[EUR][1000 genomes]
rs6980450	0.86[AFR][1000 genomes]
rs757159	0.94[CEU][hapmap];0.85[EUR][1000 genomes]
rs769156	0.94[CEU][hapmap];0.82[EUR][1000 genomes]
rs7776634	0.94[CEU][hapmap];0.87[EUR][1000 genomes]
rs7792031	0.92[EUR][1000 genomes]
rs7793356	0.94[CEU][hapmap];0.88[EUR][1000 genomes]
rs7800541	0.94[CEU][hapmap];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025277	chr7:86299224-87206007	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv538999	chr7:86299224-87206007	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv532147	chr7:86299225-87121975	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	nsv1016761	chr7:86758544-86914152	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
5	nsv888677	chr7:86802025-87781111	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
6	nsv464622	chr7:86832603-87541248	Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
7	nsv607725	chr7:86832603-87541248	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
8	nsv1029486	chr7:86856387-87121976	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
9	nsv539004	chr7:86856387-87121976	Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
10	esv1814401	chr7:86857553-87034167	Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
11	esv1826474	chr7:86857553-87034167	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
12	nsv428177	chr7:86857553-87034167	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
13	esv1828294	chr7:86857553-87147397	Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:86850600-86860400	Weak transcription	Right Atrium	heart
2	chr7:86859400-86860800	Enhancers	Brain Germinal Matrix	brain
3	chr7:86859400-86860800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
4	chr7:86859600-86861600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr7:86859800-86860800	Enhancers	Fetal Brain Male	brain
6	chr7:86859800-86860800	Enhancers	Fetal Muscle Leg	muscle
7	chr7:86859800-86860800	Enhancers	Gastric	stomach
8	chr7:86859800-86861400	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr7:86859800-86861400	Enhancers	Brain Cingulate Gyrus	brain
10	chr7:86860000-86860600	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr7:86860000-86860800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr7:86860000-86861600	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr7:86860200-86860600	Enhancers	Stomach Smooth Muscle	stomach
14	chr7:86860200-86860800	Enhancers	Right Ventricle	heart
15	chr7:86860200-86861000	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr7:86860200-86861600	Enhancers	Brain Substantia Nigra	brain

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