Variant report

Variant	rs4949803
Chromosome Location	chr1:77951083-77951084
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	chr1:77948475..77951287-chr1:77952444..77954143,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs12731121	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12732561	0.86[EUR][1000 genomes]
rs12733666	0.82[CEU][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.94[MEX][hapmap];0.90[TSI][hapmap];0.90[EUR][1000 genomes]
rs12746354	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12751064	1.00[CHD][hapmap]
rs12756133	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12760589	0.86[EUR][1000 genomes]
rs13376422	0.91[EUR][1000 genomes]
rs17380852	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs17381664	1.00[CHD][hapmap]
rs1909202	1.00[CHD][hapmap]
rs1909203	1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[ASN][1000 genomes]
rs2454328	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2647496	0.94[CEU][hapmap];0.82[AMR][1000 genomes]
rs2647497	1.00[CEU][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.88[MEX][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35254623	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35635429	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35883964	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4949662	1.00[CHD][hapmap]
rs66538606	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6678622	1.00[CHD][hapmap]
rs6684022	1.00[CHD][hapmap]
rs67045981	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72681697	0.86[EUR][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	nsv932557	chr1:77730247-77958687	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv470719	chr1:77774413-78269207	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv546591	chr1:77774413-78269207	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv462095	chr1:77903611-77951460	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv546592	chr1:77903611-77951460	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77913200-77968400	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr1:77914600-77955600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:77934600-77955200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:77935600-77955800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:77935800-77954800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr1:77940200-77955800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:77940400-77954800	Weak transcription	Brain Angular Gyrus	brain
8	chr1:77940400-77955400	Weak transcription	NHLF	lung
9	chr1:77940600-77954800	Weak transcription	Brain Hippocampus Middle	brain
10	chr1:77940600-77955600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr1:77940600-77960800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:77940800-77955400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:77944800-77955400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:77945400-77958600	Weak transcription	Primary T cells from cord blood	blood
15	chr1:77945800-77961600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr1:77946200-77951800	Weak transcription	HSMM	muscle
17	chr1:77947000-77952000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:77947000-77953400	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr1:77947000-77954400	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr1:77947000-77954800	Weak transcription	Brain Substantia Nigra	brain
21	chr1:77949800-77951400	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr1:77950000-77951200	Genic enhancers	NHDF-Ad	bronchial

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