Variant report

Variant	rs2602939
Chromosome Location	chr1:77841422-77841423
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	chr1:77840080..77842951-chr1:77843079..77845956,2	K562	blood:
2	chr1:77838249..77841580-chr1:77844120..77846924,3	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10735749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1353726	1.00[AMR][1000 genomes]
rs1353727	1.00[MEX][hapmap]
rs1377736	1.00[AMR][1000 genomes]
rs1453974	1.00[MEX][hapmap]
rs1532509	1.00[AMR][1000 genomes]
rs17100774	1.00[MEX][hapmap]
rs1869468	1.00[MEX][hapmap]
rs1874818	1.00[AMR][1000 genomes]
rs2246124	0.89[YRI][hapmap]
rs2291689	1.00[MEX][hapmap]
rs2349964	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2602931	0.88[YRI][hapmap]
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]
rs2647491	1.00[MEX][hapmap]
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[MEX][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2803148	1.00[AMR][1000 genomes]
rs2803149	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs2815305	1.00[AMR][1000 genomes]
rs2815331	1.00[MEX][hapmap]
rs2815334	1.00[MEX][hapmap]
rs2815336	1.00[AMR][1000 genomes]
rs3112830	1.00[MEX][hapmap]
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]
rs6603942	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77835800-77846400	Weak transcription	Aorta	Aorta
2	chr1:77836600-77844000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:77836600-77844400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr1:77837000-77844400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr1:77837200-77845000	Weak transcription	Fetal Stomach	stomach
6	chr1:77837400-77844600	Weak transcription	Brain Angular Gyrus	brain
7	chr1:77837400-77845800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:77837600-77844800	Weak transcription	HSMMtube	muscle
9	chr1:77837800-77844200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:77837800-77844400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr1:77838000-77843200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr1:77838000-77844200	Weak transcription	Primary T cells from cord blood	blood
13	chr1:77838600-77844400	Weak transcription	HSMM	muscle
14	chr1:77838600-77845000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:77838800-77844200	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr1:77839000-77854000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:77839800-77844600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:77840000-77844600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr1:77840600-77842000	Enhancers	Brain Anterior Caudate	brain
20	chr1:77840800-77842000	Enhancers	Brain Substantia Nigra	brain
21	chr1:77840800-77842200	Enhancers	Brain Hippocampus Middle	brain
22	chr1:77841000-77842000	Genic enhancers	NHDF-Ad	bronchial
23	chr1:77841000-77842200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:77841000-77842200	Enhancers	Brain Cingulate Gyrus	brain
25	chr1:77841000-77844200	Weak transcription	Fetal Intestine Small	intestine
26	chr1:77841000-77844600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:77841200-77841600	Enhancers	NHLF	lung
28	chr1:77841200-77844400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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