Variant report

Variant	rs6701249
Chromosome Location	chr1:175120315-175120316
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1011808	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs10732995	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs10753090	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10753092	0.91[AMR][1000 genomes]
rs10912897	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2142507	0.84[AMR][1000 genomes]
rs2157587	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2861156	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4140637	0.84[AMR][1000 genomes]
rs4390138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4650703	1.00[AFR][1000 genomes]
rs4650707	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4650725	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs4651340	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4651342	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4651360	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs6425324	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7533374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs760487	1.00[AFR][1000 genomes];0.91[AMR][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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175110200-175127400	Weak transcription	Left Ventricle	heart
2	chr1:175111400-175122600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:175115000-175125000	Weak transcription	Right Atrium	heart
4	chr1:175116400-175121200	Weak transcription	Placenta	Placenta
5	chr1:175116600-175121400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr1:175116800-175121000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:175119000-175120400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:175119000-175120400	Enhancers	Liver	Liver
9	chr1:175119000-175121400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:175119400-175120400	Enhancers	HMEC	breast
11	chr1:175119400-175121200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:175119600-175120400	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
13	chr1:175120000-175120400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:175120000-175120600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:175120000-175121200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr1:175120000-175121400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr1:175120000-175139400	Weak transcription	Colon Smooth Muscle	Colon
18	chr1:175120200-175120600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr1:175120200-175127600	Weak transcription	Stomach Smooth Muscle	stomach

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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