Variant report

Variant	rs12651341
Chromosome Location	chr4:82067115-82067116
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:82044462..82047224-chr4:82065201..82067700,2	MCF-7	breast:
2	chr4:82062502..82064110-chr4:82066567..82068962,3	K562	blood:
3	chr4:82065868..82068422-chr4:82071657..82074453,2	MCF-7	breast:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10003341	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10005912	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10516650	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11099460	0.87[EUR][1000 genomes]
rs11722020	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11733213	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11933194	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12330930	0.87[EUR][1000 genomes]
rs12331759	0.87[EUR][1000 genomes]
rs12331821	0.87[EUR][1000 genomes]
rs12332035	0.87[EUR][1000 genomes]
rs12643702	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1517547	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1545287	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1546651	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1972127	0.85[EUR][1000 genomes]
rs2028642	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28419569	0.82[EUR][1000 genomes]
rs28445932	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28491787	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28669195	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2868141	0.87[EUR][1000 genomes]
rs28783134	0.87[EUR][1000 genomes]
rs2903751	0.80[EUR][1000 genomes]
rs3733550	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3943629	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4566647	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56008646	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs56061857	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs59896344	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs60111302	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6828114	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6848802	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6857403	0.84[EUR][1000 genomes]
rs72878860	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72879491	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72879493	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72879502	0.84[EUR][1000 genomes]
rs72880604	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72881305	0.84[EUR][1000 genomes]
rs7687258	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs984924	0.81[EUR][1000 genomes]
rs986290	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]

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	nsv999729	chr4:81802554-82627820	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv537156	chr4:81802554-82627820	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv829984	chr4:81979988-82113977	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	esv1822437	chr4:82025743-82118996	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:82052000-82075000	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr4:82052400-82074400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr4:82052800-82069800	Weak transcription	Fetal Brain Female	brain
4	chr4:82053400-82074800	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr4:82054400-82074400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr4:82054600-82075000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr4:82059600-82074600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr4:82059600-82075000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr4:82062800-82069000	Strong transcription	Fetal Intestine Large	intestine
10	chr4:82062800-82073600	Weak transcription	Fetal Intestine Small	intestine
11	chr4:82064200-82069400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:82064600-82067800	Weak transcription	NHDF-Ad	bronchial
13	chr4:82065200-82067800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:82066400-82071600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr4:82066400-82071600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr4:82067000-82071200	Enhancers	Fetal Brain Male	brain

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