Variant report

Variant	rs6703136
Chromosome Location	chr1:175119581-175119582
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:174999884..175001558-chr1:175119055..175120862,2	K562	blood:
2	chr1:175119497..175122069-chr1:175128749..175130315,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs41266092	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60694086	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6664308	0.91[EUR][1000 genomes]
rs6664418	0.91[EUR][1000 genomes]
rs74126905	0.91[EUR][1000 genomes]
rs74126907	0.91[EUR][1000 genomes]
rs74126914	0.91[EUR][1000 genomes]
rs74126915	0.91[EUR][1000 genomes]
rs74126919	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs74126922	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74126923	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74126924	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs74126925	1.00[ASN][1000 genomes]
rs74126926	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74126927	0.94[ASN][1000 genomes]
rs7547349	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv508648	chr1:175056387-175121913	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv522101	chr1:175109517-175151183	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv429924	chr1:175110480-175134314	Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175108000-175119800	Weak transcription	Adipose Nuclei	Adipose
2	chr1:175110200-175127400	Weak transcription	Left Ventricle	heart
3	chr1:175111400-175122600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:175111600-175119600	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr1:175115000-175125000	Weak transcription	Right Atrium	heart
6	chr1:175115800-175120000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:175116200-175120000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:175116400-175121200	Weak transcription	Placenta	Placenta
9	chr1:175116600-175121400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr1:175116800-175121000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:175119000-175120200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:175119000-175120200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:175119000-175120400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:175119000-175120400	Enhancers	Liver	Liver
15	chr1:175119000-175121400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:175119200-175120000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:175119400-175119600	Enhancers	Fetal Brain Male	brain
18	chr1:175119400-175119800	Active TSS	Stomach Smooth Muscle	stomach
19	chr1:175119400-175120000	Enhancers	HSMM	muscle
20	chr1:175119400-175120200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:175119400-175120400	Enhancers	HMEC	breast
22	chr1:175119400-175121200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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