Variant report

Variant	rs4650050
Chromosome Location	chr1:70909582-70909583
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:70905812-70910297	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:70898237..70900336-chr1:70907691..70909600,2	K562	blood:

Variant related genes	Relation type
ENSG00000271992	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12037405	0.85[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12038097	0.80[ASN][1000 genomes]
rs17131305	0.80[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17131312	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17131313	0.88[ASN][1000 genomes]
rs1831868	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3767205	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4649915	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4650048	0.89[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55907995	0.80[ASN][1000 genomes]
rs56024937	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61598933	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72680738	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[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	nsv999219	chr1:70730556-71014911	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
2	nsv830137	chr1:70765921-70958718	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
3	nsv871100	chr1:70859397-70928786	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv461828	chr1:70880717-70922360	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv546456	chr1:70880717-70922360	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70878200-70909600	Weak transcription	Gastric	stomach
2	chr1:70895800-70912000	Weak transcription	Hela-S3	cervix
3	chr1:70897000-70909600	Weak transcription	Pancreas	Pancrea
4	chr1:70900200-70913800	Weak transcription	Dnd41	blood
5	chr1:70900200-70914800	Weak transcription	K562	blood
6	chr1:70902000-70909600	Weak transcription	Lung	lung
7	chr1:70904600-70915000	Weak transcription	Aorta	Aorta
8	chr1:70905000-70909600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr1:70905000-70910000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr1:70906400-70910400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:70906600-70910000	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr1:70906600-70910000	Weak transcription	Ovary	ovary
13	chr1:70906800-70910200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr1:70907000-70910200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:70907000-70914000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:70907200-70910200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:70907400-70910200	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr1:70908200-70910000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr1:70908400-70910000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr1:70908400-70912800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr1:70908400-70915000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr1:70908400-70918600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr1:70908600-70909800	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr1:70908600-70910200	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr1:70908600-70914400	Weak transcription	Liver	Liver
26	chr1:70908800-70909600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr1:70909000-70928200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr1:70909200-70910200	Enhancers	H1 Cell Line	embryonic stem cell
29	chr1:70909200-70913200	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr1:70909400-70910200	Enhancers	Brain Germinal Matrix	brain

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