Variant report

Variant	rs6700484
Chromosome Location	chr1:185089901-185089902
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1046592	0.91[CHB][hapmap];0.87[JPT][hapmap]
rs10489580	0.86[JPT][hapmap]
rs10737256	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10752945	0.92[ASN][1000 genomes]
rs10797998	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs10797999	1.00[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10798000	0.81[JPT][hapmap]
rs10911678	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10911680	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11588646	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12025737	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12030554	0.87[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12081098	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12086086	0.91[CHB][hapmap];0.87[JPT][hapmap]
rs12404187	0.81[JPT][hapmap]
rs12404644	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs12566975	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1322646	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1407555	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1407556	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1407557	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1544052	0.91[CHB][hapmap];0.82[JPT][hapmap]
rs1884447	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2057222	0.81[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2146329	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3753569	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4549995	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6424971	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs6674490	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6684586	1.00[CEU][hapmap]
rs7512290	0.81[JPT][hapmap]
rs7519019	1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap];0.92[ASN][1000 genomes]
rs7533198	0.81[JPT][hapmap]
rs7547420	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[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	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv548396	chr1:185038104-185151378	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv521613	chr1:185071831-185171869	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv872588	chr1:185081903-185117688	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185018400-185101800	Weak transcription	Fetal Brain Male	brain
2	chr1:185054400-185101800	Weak transcription	A549	lung
3	chr1:185055400-185096200	Weak transcription	Hela-S3	cervix
4	chr1:185056200-185124200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr1:185057600-185094600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr1:185058800-185093600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:185059000-185124800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr1:185067800-185095400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:185068400-185110200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:185069400-185091000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:185070000-185101400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr1:185073600-185092800	Weak transcription	Fetal Kidney	kidney
13	chr1:185073600-185115000	Weak transcription	NH-A	brain
14	chr1:185078800-185102000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr1:185079800-185102000	Weak transcription	Small Intestine	intestine
16	chr1:185080000-185101000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr1:185081200-185091400	Weak transcription	GM12878-XiMat	blood
18	chr1:185081600-185091000	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr1:185081800-185092800	Weak transcription	HUVEC	blood vessel
20	chr1:185082000-185092800	Weak transcription	K562	blood
21	chr1:185082200-185095200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:185082400-185093600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:185082600-185100400	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr1:185082600-185101400	Weak transcription	Esophagus	oesophagus
25	chr1:185082600-185125400	Weak transcription	Spleen	Spleen
26	chr1:185083400-185093400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr1:185084200-185103400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr1:185084200-185124400	Weak transcription	Right Ventricle	heart
29	chr1:185084400-185091000	Weak transcription	Brain Angular Gyrus	brain
30	chr1:185084400-185093000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr1:185084600-185102400	Weak transcription	Aorta	Aorta
32	chr1:185084600-185104200	Weak transcription	Pancreas	Pancrea
33	chr1:185084800-185091800	Weak transcription	Fetal Intestine Small	intestine
34	chr1:185085000-185121400	Weak transcription	NHEK	skin
35	chr1:185085400-185090400	Weak transcription	Fetal Muscle Trunk	muscle
36	chr1:185085400-185125000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:185085600-185091000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr1:185085600-185094400	Weak transcription	Lung	lung
39	chr1:185086000-185090800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr1:185086000-185101000	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr1:185086000-185107000	Strong transcription	Liver	Liver
42	chr1:185086000-185120200	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr1:185086200-185101000	Weak transcription	Thymus	Thymus
44	chr1:185086200-185101200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr1:185086400-185098000	Strong transcription	Placenta	Placenta
46	chr1:185086400-185100000	Strong transcription	Primary B cells from peripheral blood	blood
47	chr1:185086600-185099800	Strong transcription	Adipose Nuclei	Adipose
48	chr1:185086600-185100000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr1:185086800-185098000	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr1:185087000-185125000	Weak transcription	Gastric	stomach

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