Variant report

Variant	rs6657266
Chromosome Location	chr1:161710794-161710795
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:161449421..161451787-chr1:161709912..161712102,2	K562	blood:
2	chr1:161454518..161455083-chr1:161710546..161711492,2	K562	blood:
3	chr1:161709954..161712481-chr1:161715478..161718294,2	MCF-7	breast:
4	chr1:161616209..161618831-chr1:161708579..161712751,3	MCF-7	breast:
5	chr1:161708205..161716175-chr1:161716206..161720292,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000081721	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1063179	1.00[CEU][hapmap];0.92[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10917835	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10917867	0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10918029	0.84[CHB][hapmap];0.82[JPT][hapmap];0.84[LWK][hapmap];0.81[YRI][hapmap]
rs12078104	0.92[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs12691498	0.82[CHB][hapmap];0.82[JPT][hapmap];0.80[YRI][hapmap]
rs12728760	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6698956	0.82[CHB][hapmap];0.84[YRI][hapmap]
rs73019308	0.82[ASN][1000 genomes]
rs9970071	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9970901	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161704000-161713800	Weak transcription	HUVEC	blood vessel
2	chr1:161706800-161713600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:161706800-161718800	Weak transcription	NH-A	brain
4	chr1:161707000-161711600	Enhancers	K562	blood
5	chr1:161707200-161711400	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr1:161707400-161713000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:161707600-161711200	Weak transcription	A549	lung
8	chr1:161707600-161713000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:161707600-161713200	Weak transcription	NHDF-Ad	bronchial
10	chr1:161707600-161719200	Weak transcription	NHLF	lung
11	chr1:161707800-161711600	Enhancers	Primary B cells from peripheral blood	blood
12	chr1:161708000-161711200	Enhancers	Primary B cells from cord blood	blood
13	chr1:161708200-161711200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr1:161708200-161711400	Enhancers	Primary T cells fromperipheralblood	blood
15	chr1:161708200-161711400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr1:161708200-161711600	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr1:161708200-161713600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr1:161708400-161711400	Enhancers	Primary hematopoietic stem cells	blood
19	chr1:161708400-161711400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr1:161708400-161711400	Enhancers	Duodenum Mucosa	Duodenum
21	chr1:161708600-161711400	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr1:161708800-161711600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr1:161709200-161711400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr1:161709200-161713000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:161709400-161711000	Weak transcription	Dnd41	blood
26	chr1:161709400-161711400	Enhancers	Adipose Nuclei	Adipose
27	chr1:161709600-161711400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:161709600-161711400	Enhancers	Liver	Liver
29	chr1:161709800-161711000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr1:161709800-161711200	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr1:161710200-161711200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr1:161710400-161710800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr1:161710400-161710800	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr1:161710400-161711400	Enhancers	GM12878-XiMat	blood
35	chr1:161710400-161711600	Enhancers	Primary neutrophils fromperipheralblood	blood

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