Variant report

Variant	rs6671675
Chromosome Location	chr1:180641742-180641743
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10914067	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11487340	1.00[EUR][1000 genomes]
rs11487432	1.00[YRI][hapmap];0.98[AFR][1000 genomes]
rs12060106	1.00[EUR][1000 genomes]
rs12063811	1.00[EUR][1000 genomes]
rs12064145	0.89[AFR][1000 genomes]
rs12073959	1.00[EUR][1000 genomes]
rs12075181	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12075718	1.00[EUR][1000 genomes]
rs12079057	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12084966	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12087860	0.95[YRI][hapmap];0.91[AFR][1000 genomes]
rs12238979	1.00[EUR][1000 genomes]
rs12240182	1.00[EUR][1000 genomes]
rs13374649	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs28556586	1.00[EUR][1000 genomes]
rs6425649	1.00[CEU][hapmap]
rs6659019	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs6692545	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6700702	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs73036505	1.00[EUR][1000 genomes]
rs73036508	1.00[EUR][1000 genomes]
rs73047686	1.00[EUR][1000 genomes]
rs73047695	1.00[EUR][1000 genomes]
rs73049484	1.00[EUR][1000 genomes]
rs73049487	1.00[EUR][1000 genomes]
rs73051218	1.00[EUR][1000 genomes]
rs7553766	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7556291	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
2	nsv949311	chr1:180438895-180692815	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv872578	chr1:180510771-180842344	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180602000-180645200	Weak transcription	Gastric	stomach
2	chr1:180631600-180644400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:180632200-180644800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:180633200-180672000	Weak transcription	K562	blood
5	chr1:180633400-180642600	Weak transcription	Pancreas	Pancrea
6	chr1:180634000-180643400	Weak transcription	Left Ventricle	heart
7	chr1:180634800-180643800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr1:180635000-180642600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:180635000-180644800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:180635200-180654800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:180636400-180647200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr1:180636400-180651800	Weak transcription	Ovary	ovary
13	chr1:180640200-180643800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr1:180640200-180662200	Weak transcription	Fetal Heart	heart
15	chr1:180640600-180660600	Weak transcription	Right Ventricle	heart
16	chr1:180641000-180642200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:180641000-180653200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr1:180641200-180642600	Weak transcription	Aorta	Aorta
19	chr1:180641200-180644000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr1:180641200-180644400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:180641200-180647400	Weak transcription	Fetal Intestine Small	intestine
22	chr1:180641200-180653400	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr1:180641200-180662800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr1:180641400-180644800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:180641600-180642400	Enhancers	Muscle Satellite Cultured Cells	--
26	chr1:180641600-180661200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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