Variant report

Variant	rs2799529
Chromosome Location	chr1:92292502-92292503
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10747477	1.00[AMR][1000 genomes]
rs1892006	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2450929	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2450930	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2479869	1.00[AMR][1000 genomes]
rs2479873	1.00[AMR][1000 genomes]
rs2479874	1.00[AMR][1000 genomes]
rs2479877	1.00[AMR][1000 genomes]
rs2480707	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2489172	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2489177	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2489180	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2489181	1.00[AMR][1000 genomes]
rs2489191	1.00[AMR][1000 genomes]
rs2492088	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2492089	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2492090	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2492091	1.00[AFR][1000 genomes]
rs2634035	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2634037	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2634039	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2770190	1.00[AMR][1000 genomes]
rs2799513	1.00[AMR][1000 genomes]
rs2799530	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2799531	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2799534	1.00[AMR][1000 genomes]
rs2799538	1.00[AMR][1000 genomes]
rs2810892	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2987446	1.00[AMR][1000 genomes]
rs2987447	1.00[AMR][1000 genomes]
rs2996475	1.00[AMR][1000 genomes]
rs2996483	1.00[AMR][1000 genomes]
rs57426601	1.00[AMR][1000 genomes]
rs66702902	1.00[AMR][1000 genomes]
rs6677910	1.00[AMR][1000 genomes]
rs6703194	1.00[AMR][1000 genomes]
rs7527065	1.00[AMR][1000 genomes]
rs7531181	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012864	chr1:92067100-92827761	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv535029	chr1:92067100-92827761	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv530438	chr1:92091957-92827760	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1010179	chr1:92140209-92655952	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv535030	chr1:92140209-92655952	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv1005917	chr1:92189945-92378683	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv949449	chr1:92211020-92585831	Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv524845	chr1:92215725-92598705	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv462517	chr1:92215725-92598705	Weak transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv546810	chr1:92215725-92598705	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	nsv1006318	chr1:92216408-92608324	Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv432498	chr1:92218245-92618323	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	nsv1004570	chr1:92220544-92622129	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
14	nsv1007661	chr1:92220544-92655952	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
15	nsv1014837	chr1:92233905-92618839	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
16	nsv535031	chr1:92233905-92618839	Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
17	nsv1012134	chr1:92235485-92598800	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
18	nsv546818	chr1:92236048-92579206	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
19	nsv546819	chr1:92256626-92558583	Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
20	nsv546820	chr1:92273644-92558583	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
21	nsv530046	chr1:92277460-92799794	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
22	nsv1007270	chr1:92289298-92598800	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92279600-92294000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr1:92284200-92292600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:92284200-92295400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:92284400-92293000	Weak transcription	K562	blood
5	chr1:92285200-92292800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:92285400-92292600	Weak transcription	Liver	Liver
7	chr1:92285400-92293400	Weak transcription	Esophagus	oesophagus
8	chr1:92285400-92293400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:92285600-92292800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:92285600-92292800	Weak transcription	NHDF-Ad	bronchial
11	chr1:92285600-92293000	Weak transcription	Fetal Lung	lung
12	chr1:92285600-92293200	Weak transcription	Adipose Nuclei	Adipose
13	chr1:92285800-92292600	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr1:92285800-92295600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:92286000-92295600	Weak transcription	Fetal Stomach	stomach
16	chr1:92286600-92293000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr1:92287400-92293400	Weak transcription	Spleen	Spleen
18	chr1:92287600-92292800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr1:92287600-92293000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr1:92287600-92294000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr1:92287600-92296000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr1:92291200-92292600	Enhancers	Fetal Heart	heart
23	chr1:92291200-92293200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr1:92291600-92293000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:92291600-92293000	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr1:92291600-92293000	Enhancers	Colon Smooth Muscle	Colon
27	chr1:92291600-92293400	Genic enhancers	Fetal Muscle Leg	muscle
28	chr1:92291600-92293800	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr1:92291600-92294200	Enhancers	Pancreas	Pancrea
30	chr1:92291600-92295000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:92291600-92296600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr1:92291800-92292600	Enhancers	A549	lung
33	chr1:92291800-92293200	Flanking Active TSS	HepG2	liver
34	chr1:92291800-92293800	Enhancers	NHLF	lung
35	chr1:92291800-92294600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:92291800-92294600	Enhancers	Fetal Intestine Small	intestine
37	chr1:92292000-92294000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:92292000-92294000	Weak transcription	Right Ventricle	heart
39	chr1:92292000-92294400	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr1:92292200-92292600	Weak transcription	Lung	lung
41	chr1:92292200-92292600	Enhancers	Stomach Smooth Muscle	stomach
42	chr1:92292200-92293000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr1:92292200-92293000	Enhancers	Duodenum Mucosa	Duodenum
44	chr1:92292200-92293400	Weak transcription	Left Ventricle	heart
45	chr1:92292200-92294200	Weak transcription	Ovary	ovary
46	chr1:92292200-92295000	Enhancers	Fetal Intestine Large	intestine
47	chr1:92292400-92292600	Weak transcription	Aorta	Aorta
48	chr1:92292400-92292800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr1:92292400-92293200	Weak transcription	Right Atrium	heart
50	chr1:92292400-92293600	Weak transcription	Psoas Muscle	Psoas

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