Variant report

Variant	rs2925765
Chromosome Location	chr2:161022550-161022551
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:161022219..161025044-chr2:161064503..161066413,2	MCF-7	breast:
2	chr2:161021794..161024163-chr2:161085942..161087793,2	MCF-7	breast:
3	chr2:161020904..161022574-chr2:161030651..161033294,2	MCF-7	breast:
4	chr2:161021190..161023892-chr2:161082656..161085932,3	MCF-7	breast:
5	chr2:161015690..161017268-chr2:161021219..161023930,2	MCF-7	breast:
6	chr2:161021233..161022861-chr2:161054683..161057079,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115221	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11890990	1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap]
rs2357863	1.00[MEX][hapmap]
rs2667034	1.00[MEX][hapmap]
rs2925764	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes]
rs2966388	0.87[ASW][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3111394	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3111396	1.00[AMR][1000 genomes]
rs58430965	0.86[AFR][1000 genomes]
rs60947267	0.89[AFR][1000 genomes]
rs6724949	1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap]
rs73969108	0.92[AFR][1000 genomes]
rs73969110	0.89[AFR][1000 genomes]
rs7593257	0.92[AFR][1000 genomes]
rs7602804	1.00[YRI][hapmap]
rs7606596	1.00[MEX][hapmap];0.81[MKK][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv459929	chr2:160963603-161079435	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv583497	chr2:160963603-161079435	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv875346	chr2:160965335-161044155	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv1001502	chr2:160967864-161079450	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:160959400-161032800	Weak transcription	Psoas Muscle	Psoas
2	chr2:160994400-161037400	Weak transcription	Pancreas	Pancrea
3	chr2:160994600-161038000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr2:160999400-161022600	Weak transcription	Stomach Mucosa	stomach
5	chr2:161002600-161028400	Weak transcription	Lung	lung
6	chr2:161005600-161026000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr2:161005600-161037400	Weak transcription	Esophagus	oesophagus
8	chr2:161014200-161023600	Weak transcription	Osteobl	bone
9	chr2:161014800-161023600	Weak transcription	HSMMtube	muscle
10	chr2:161014800-161028200	Weak transcription	Fetal Muscle Leg	muscle
11	chr2:161015000-161024600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr2:161015000-161037400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:161015200-161026800	Weak transcription	HSMM	muscle
14	chr2:161015400-161025400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr2:161016000-161027200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr2:161016000-161030800	Strong transcription	HMEC	breast
17	chr2:161016200-161029800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:161016200-161030800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:161016400-161030200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:161018200-161024000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr2:161019800-161024200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:161020400-161027000	Enhancers	Fetal Kidney	kidney
23	chr2:161020800-161028200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:161021200-161022800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr2:161021400-161026400	Enhancers	Fetal Intestine Small	intestine
26	chr2:161021400-161029400	Strong transcription	Placenta Amnion	Placenta Amnion
27	chr2:161021800-161022800	Enhancers	Ovary	ovary
28	chr2:161021800-161023400	Enhancers	Duodenum Mucosa	Duodenum
29	chr2:161021800-161023800	Enhancers	Fetal Intestine Large	intestine
30	chr2:161022000-161022600	Enhancers	Placenta	Placenta
31	chr2:161022200-161030800	Strong transcription	NHEK	skin
32	chr2:161022400-161025200	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr2:161022400-161028800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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