Variant report

Variant	rs6705869
Chromosome Location	chr2:189171943-189171944
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:189167224..189169277-chr2:189170587..189173046,3	K562	blood:
2	chr2:189168624..189170839-chr2:189170843..189173711,2	MCF-7	breast:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10153666	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10153862	1.00[AMR][1000 genomes]
rs10171583	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10174521	1.00[AMR][1000 genomes]
rs10184797	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10185493	0.88[AFR][1000 genomes]
rs10190081	0.93[AFR][1000 genomes]
rs10190630	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10192679	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10197598	1.00[AMR][1000 genomes]
rs10198965	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10199401	1.00[AFR][1000 genomes]
rs10207510	1.00[AMR][1000 genomes]
rs10211425	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10211482	1.00[AMR][1000 genomes]
rs10439261	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11904835	1.00[AMR][1000 genomes]
rs13386579	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13390367	1.00[AMR][1000 genomes]
rs13391799	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13392080	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13393442	0.95[AFR][1000 genomes]
rs13399903	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13401242	1.00[AMR][1000 genomes]
rs13401321	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13401975	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13402240	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13403672	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13404901	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13411351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13414813	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13418323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13423468	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13424443	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28528331	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4667232	1.00[AMR][1000 genomes]
rs59080597	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6434287	1.00[AMR][1000 genomes]
rs6710795	1.00[AMR][1000 genomes]
rs6742748	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6748075	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6755644	1.00[AMR][1000 genomes]
rs6759147	1.00[AMR][1000 genomes]
rs6761280	1.00[AMR][1000 genomes]
rs7589600	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9288154	0.91[AFR][1000 genomes]
rs9288156	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010394	chr2:188994398-189284092	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
2	nsv998395	chr2:189018246-189284092	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189160000-189172800	Weak transcription	Rectal Smooth Muscle	rectum
2	chr2:189164600-189178200	Weak transcription	Fetal Lung	lung
3	chr2:189164600-189178600	Weak transcription	Esophagus	oesophagus
4	chr2:189167400-189172000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:189168000-189172000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr2:189168200-189172400	Weak transcription	Psoas Muscle	Psoas
7	chr2:189168200-189183200	Weak transcription	Ovary	ovary
8	chr2:189168400-189173200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:189168600-189172400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:189168600-189172600	Weak transcription	HMEC	breast
11	chr2:189168800-189172400	Weak transcription	NHEK	skin
12	chr2:189168800-189183200	Weak transcription	A549	lung
13	chr2:189169000-189173600	Enhancers	HUVEC	blood vessel
14	chr2:189169200-189172600	Weak transcription	Osteobl	bone
15	chr2:189169400-189173600	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr2:189169400-189173600	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr2:189169400-189187200	Weak transcription	NHLF	lung
18	chr2:189169600-189173400	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr2:189170200-189173000	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr2:189170400-189173200	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr2:189170400-189177000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:189170600-189181200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:189170600-189183200	Weak transcription	Gastric	stomach
24	chr2:189170800-189173000	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr2:189171000-189173000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr2:189171000-189173000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:189171400-189172400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr2:189171400-189172600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:189171400-189172800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr2:189171400-189173800	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr2:189171600-189172600	Weak transcription	Colon Smooth Muscle	Colon
32	chr2:189171600-189172800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:189171600-189176400	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr2:189171600-189179200	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr2:189171600-189179200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:189171800-189172200	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr2:189171800-189172200	Weak transcription	NHDF-Ad	bronchial

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