Variant report

Variant	rs10171583
Chromosome Location	chr2:189163574-189163575
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:189155055..189158409-chr2:189159948..189163832,8	K562	blood:
2	chr2:189157681..189159494-chr2:189162984..189164985,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000144366	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10153666	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10153862	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]
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]
rs59080597	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6434287	1.00[AMR][1000 genomes]
rs6705869	1.00[AFR][1000 genomes];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]
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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189158000-189163600	Weak transcription	Lung	lung
2	chr2:189159000-189163600	Weak transcription	Pancreas	Pancrea
3	chr2:189159000-189168000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:189159000-189168000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:189159200-189168000	Weak transcription	Psoas Muscle	Psoas
6	chr2:189159200-189171200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr2:189160000-189172800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr2:189160200-189163600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr2:189160200-189163600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:189160200-189167800	Weak transcription	Colon Smooth Muscle	Colon
11	chr2:189160200-189168200	Weak transcription	HMEC	breast
12	chr2:189160400-189171000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:189161000-189167400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:189161200-189163600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr2:189161200-189164400	Weak transcription	Fetal Lung	lung
16	chr2:189161200-189167400	Weak transcription	Placenta	Placenta
17	chr2:189161400-189163800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
18	chr2:189161400-189167400	Weak transcription	HUVEC	blood vessel
19	chr2:189161800-189163800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
20	chr2:189161800-189165600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr2:189162400-189170000	Weak transcription	Aorta	Aorta
22	chr2:189162600-189163800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
23	chr2:189162800-189163800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
24	chr2:189163200-189164600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:189163400-189163600	Enhancers	H1 Cell Line	embryonic stem cell
26	chr2:189163400-189163800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
27	chr2:189163400-189163800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr2:189163400-189163800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr2:189163400-189163800	ZNF genes & repeats	A549	lung
30	chr2:189163400-189164800	Enhancers	Stomach Mucosa	stomach
31	chr2:189163400-189165000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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