Variant report

Variant	rs12046383
Chromosome Location	chr1:161707502-161707503
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:161703503..161707776-chr1:161717836..161724077,7	K562	blood:
2	chr1:161702286..161705058-chr1:161705873..161710501,6	K562	blood:
3	chr1:161454708..161457189-chr1:161706956..161708732,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000081721	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs12021510	0.82[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16858998	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs16859391	0.86[CHB][hapmap];0.91[JPT][hapmap];1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs16859935	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17406901	0.85[EUR][1000 genomes]
rs17414989	0.82[CEU][hapmap];0.97[EUR][1000 genomes]
rs17415303	0.85[EUR][1000 genomes]
rs17415408	0.85[EUR][1000 genomes]
rs17415505	0.85[EUR][1000 genomes]
rs4040184	1.00[AFR][1000 genomes]
rs55871495	0.85[EUR][1000 genomes]
rs56077197	0.85[EUR][1000 genomes]
rs56124956	0.85[EUR][1000 genomes]
rs60397531	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs61801182	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs61801184	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs61801185	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs61801186	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs61801187	1.00[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs61801189	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61801191	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61801234	0.85[EUR][1000 genomes]
rs61801235	0.85[EUR][1000 genomes]
rs61801236	0.82[EUR][1000 genomes]
rs61801237	0.85[EUR][1000 genomes]
rs61801238	0.85[EUR][1000 genomes]
rs61801239	0.85[EUR][1000 genomes]
rs61801242	0.85[EUR][1000 genomes]
rs61801244	0.85[EUR][1000 genomes]
rs61801245	0.85[EUR][1000 genomes]
rs72706008	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72706014	0.85[EUR][1000 genomes]
rs72706023	0.85[EUR][1000 genomes]
rs72706028	0.85[EUR][1000 genomes]
rs905590	0.86[CHB][hapmap];0.92[JPT][hapmap];1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[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	nsv428257	chr1:161406315-161868263	Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv33393	chr1:161478681-162080327	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv464184	chr1:161646807-161885352	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv548075	chr1:161646807-161885352	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	esv1005615	chr1:161707312-161714444	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161698000-161707600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:161700200-161707800	Weak transcription	Primary B cells from peripheral blood	blood
3	chr1:161700200-161708400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr1:161704000-161708600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr1:161704000-161713800	Weak transcription	HUVEC	blood vessel
6	chr1:161704200-161709000	Weak transcription	Placenta	Placenta
7	chr1:161705400-161708000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:161705400-161708600	Enhancers	H1 Cell Line	embryonic stem cell
9	chr1:161705800-161708000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr1:161706200-161707600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:161706200-161707600	Enhancers	NHDF-Ad	bronchial
12	chr1:161706600-161707600	Enhancers	A549	lung
13	chr1:161706800-161708400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:161706800-161708800	Enhancers	GM12878-XiMat	blood
15	chr1:161706800-161713600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:161706800-161718800	Weak transcription	NH-A	brain
17	chr1:161707000-161708000	Enhancers	H9 Cell Line	embryonic stem cell
18	chr1:161707000-161708000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr1:161707000-161711600	Enhancers	K562	blood
20	chr1:161707200-161707800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr1:161707200-161707800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr1:161707200-161711400	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr1:161707400-161707600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr1:161707400-161707600	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr1:161707400-161707600	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr1:161707400-161707600	Enhancers	NHLF	lung
27	chr1:161707400-161707800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr1:161707400-161713000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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