Variant report

Variant	rs6757567
Chromosome Location	chr2:173538877-173538878
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:173534977..173536584-chr2:173536820..173539280,2	K562	blood:

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10166107	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10166642	0.81[EUR][1000 genomes]
rs10172894	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10188207	1.00[ASN][1000 genomes]
rs10188540	0.85[ASN][1000 genomes]
rs10190099	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10198425	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10198426	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10198546	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10205076	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10205126	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10209860	0.95[ASN][1000 genomes]
rs10210195	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11887904	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11888564	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11891071	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11894913	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11895461	0.81[CEU][hapmap];1.00[ASN][1000 genomes]
rs11897396	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11898565	0.92[CEU][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11899594	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11902043	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11902830	0.86[AFR][1000 genomes]
rs12052642	0.86[AFR][1000 genomes]
rs12328591	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12328781	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12329241	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12622834	0.92[AFR][1000 genomes]
rs13384609	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13385676	0.85[ASN][1000 genomes]
rs13387816	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13389072	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13400719	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13408965	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13411408	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13417913	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13420845	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13422388	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13423248	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13425350	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13427701	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13427921	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13428122	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13432176	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1451447	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1597647	0.80[EUR][1000 genomes]
rs16860796	0.91[AFR][1000 genomes]
rs1839767	0.81[EUR][1000 genomes]
rs2054163	0.80[AFR][1000 genomes]
rs2167374	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28541707	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28670307	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28690076	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3816536	0.92[CEU][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56308044	0.81[EUR][1000 genomes]
rs57104776	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59103702	0.92[AFR][1000 genomes]
rs59648896	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62168072	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62169318	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62169319	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62169322	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62169323	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62169324	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62169325	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62169326	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6712686	0.95[ASN][1000 genomes]
rs6716527	0.91[AFR][1000 genomes]
rs6717366	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6717851	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6724116	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6741433	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6743273	0.96[YRI][hapmap];0.90[AFR][1000 genomes]
rs7573946	0.90[EUR][1000 genomes]
rs7590282	0.91[AFR][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	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	esv2760591	chr2:173396905-173719520	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS 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	29 gene(s)	inside rSNPs	diseases
3	nsv583665	chr2:173460640-173643087	Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 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	chr2:173536400-173539200	Enhancers	Fetal Intestine Large	intestine
2	chr2:173536400-173539600	Enhancers	Fetal Intestine Small	intestine
3	chr2:173536800-173539000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:173536800-173539400	Enhancers	Duodenum Mucosa	Duodenum
5	chr2:173537400-173542000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:173537600-173539600	Enhancers	Fetal Muscle Leg	muscle
7	chr2:173537800-173539600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:173538000-173539000	Enhancers	Placenta	Placenta
9	chr2:173538000-173539200	Weak transcription	Adipose Nuclei	Adipose
10	chr2:173538000-173539200	Weak transcription	Liver	Liver
11	chr2:173538200-173539000	Enhancers	A549	lung
12	chr2:173538200-173539200	Weak transcription	Stomach Mucosa	stomach
13	chr2:173538200-173539200	Weak transcription	NHLF	lung
14	chr2:173538200-173541800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:173538400-173539400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:173538400-173539400	Enhancers	Hela-S3	cervix
17	chr2:173538400-173541800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:173538600-173539000	Enhancers	Fetal Heart	heart
19	chr2:173538600-173539000	Weak transcription	HepG2	liver
20	chr2:173538600-173539200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:173538600-173541600	Weak transcription	NHEK	skin
22	chr2:173538800-173539000	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr2:173538800-173539000	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
24	chr2:173538800-173539600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
25	chr2:173538800-173539600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
26	chr2:173538800-173539600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
27	chr2:173538800-173539600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
28	chr2:173538800-173541600	Weak transcription	HMEC	breast

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