Variant report

Variant	rs6603942
Chromosome Location	chr1:77846479-77846480
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:77838249..77841580-chr1:77844120..77846924,3	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10735749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1353726	1.00[AMR][1000 genomes]
rs1377736	1.00[AMR][1000 genomes]
rs1532509	1.00[AMR][1000 genomes]
rs1874818	1.00[AMR][1000 genomes]
rs2246124	0.89[YRI][hapmap]
rs2349964	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2602931	0.88[YRI][hapmap]
rs2602939	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2602940	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2647484	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2647526	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2803142	1.00[AMR][1000 genomes]
rs2803144	0.83[LWK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2803148	1.00[AMR][1000 genomes]
rs2803149	1.00[AMR][1000 genomes]
rs2815305	1.00[AMR][1000 genomes]
rs2815336	1.00[AMR][1000 genomes]
rs3113636	1.00[AMR][1000 genomes]
rs35352712	1.00[AMR][1000 genomes]
rs4351701	1.00[AMR][1000 genomes]
rs4949799	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs936004	0.88[YRI][hapmap]
rs9633478	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005183	chr1:77728990-77949309	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv535010	chr1:77728990-77949309	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	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
4	nsv1003714	chr1:77756861-77949309	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	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
6	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

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77839000-77854000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:77843600-77846600	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr1:77844800-77846600	Genic enhancers	NHDF-Ad	bronchial
4	chr1:77845000-77852000	Weak transcription	Brain Anterior Caudate	brain
5	chr1:77845000-77853600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:77845200-77851200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr1:77845200-77851200	Weak transcription	Brain Substantia Nigra	brain
8	chr1:77845200-77853400	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr1:77845200-77860000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:77845200-77878000	Weak transcription	Primary T cells from cord blood	blood
11	chr1:77845200-77878400	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr1:77845400-77852400	Weak transcription	Brain Hippocampus Middle	brain
13	chr1:77845600-77847600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:77845800-77846600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:77845800-77847600	Weak transcription	Fetal Intestine Small	intestine
16	chr1:77845800-77848200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr1:77846000-77852000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr1:77846200-77846600	Enhancers	A549	lung
19	chr1:77846200-77846600	Enhancers	NHLF	lung
20	chr1:77846400-77846600	ZNF genes & repeats	Aorta	Aorta
21	chr1:77846400-77846800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:77846400-77847400	Strong transcription	HSMM	muscle
23	chr1:77846400-77859200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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