Variant report

Variant	rs1457241
Chromosome Location	chr2:161000655-161000656
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:161000112..161002842-chr2:161027169..161029887,2	MCF-7	breast:
2	chr2:160997193..161000864-chr2:161081939..161085480,4	MCF-7	breast:
3	chr2:160998766..161001076-chr2:161004659..161006213,2	K562	blood:
4	chr2:160992962..160995573-chr2:161000331..161001986,2	K562	blood:
5	chr2:160992962..160997280-chr2:160998915..161002711,4	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10454740	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10803761	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11887337	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12692582	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12999707	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13031600	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13394776	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13414434	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1457233	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1457240	0.93[EUR][1000 genomes]
rs1471120	0.89[EUR][1000 genomes]
rs1471121	0.92[EUR][1000 genomes]
rs1840893	0.93[AFR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2061288	0.92[EUR][1000 genomes]
rs2357773	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2667031	0.83[EUR][1000 genomes]
rs2667033	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2715929	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2925753	0.85[EUR][1000 genomes]
rs2925756	0.86[EUR][1000 genomes]
rs2925758	0.85[EUR][1000 genomes]
rs2925760	0.84[EUR][1000 genomes]
rs2925763	0.93[EUR][1000 genomes]
rs4129787	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4233679	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4233680	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4324285	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4368286	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4399677	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4665149	0.82[ASN][1000 genomes]
rs4665155	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6432582	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6432587	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6432590	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6432593	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6432603	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6720128	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6729540	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6749513	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6752593	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6761082	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7558852	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7583743	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7608152	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs996112	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	nsv528083	chr2:160998792-161015066	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:160959200-161004200	Weak transcription	Gastric	stomach
2	chr2:160959400-161032800	Weak transcription	Psoas Muscle	Psoas
3	chr2:160983200-161005200	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr2:160990000-161005000	Weak transcription	Colonic Mucosa	Colon
5	chr2:160993200-161002200	Weak transcription	Lung	lung
6	chr2:160994400-161002000	Weak transcription	Esophagus	oesophagus
7	chr2:160994400-161002000	Weak transcription	Fetal Intestine Large	intestine
8	chr2:160994400-161004200	Weak transcription	Fetal Muscle Leg	muscle
9	chr2:160994400-161014800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr2:160994400-161037400	Weak transcription	Pancreas	Pancrea
11	chr2:160994600-161038000	Weak transcription	Fetal Muscle Trunk	muscle
12	chr2:160994800-161001000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr2:160994800-161002000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr2:160997200-161002000	Weak transcription	Fetal Intestine Small	intestine
15	chr2:160997200-161014600	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr2:160997200-161021800	Weak transcription	Duodenum Mucosa	Duodenum
17	chr2:160997600-161001000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:160998600-161001000	Genic enhancers	HMEC	breast
19	chr2:160998800-161000800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:160998800-161000800	Genic enhancers	NHEK	skin
21	chr2:160999000-161001200	Weak transcription	HSMMtube	muscle
22	chr2:160999200-161001200	Weak transcription	Fetal Kidney	kidney
23	chr2:160999400-161000800	Weak transcription	HSMM	muscle
24	chr2:160999400-161004800	Weak transcription	A549	lung
25	chr2:160999400-161012800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:160999400-161022600	Weak transcription	Stomach Mucosa	stomach
27	chr2:160999800-161002600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:160999800-161005600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr2:161000400-161004800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:161000600-161001400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:161000600-161002600	Enhancers	Dnd41	blood
32	chr2:161000600-161005600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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