Variant report

Variant	rs16859935
Chromosome Location	chr1:161705073-161705074
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:161704696..161707209-chr1:161718366..161721899,3	MCF-7	breast:
2	chr1:161703503..161707776-chr1:161717836..161724077,7	K562	blood:

Variant related genes	Relation type
ENSG00000081721	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10917740	0.85[TSI][hapmap]
rs12021510	1.00[JPT][hapmap];0.85[TSI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12040409	0.85[TSI][hapmap]
rs12046383	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]
rs16858998	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16859391	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.91[JPT][hapmap];0.83[TSI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17406901	0.86[EUR][1000 genomes]
rs17414989	0.85[TSI][hapmap]
rs17415303	0.86[EUR][1000 genomes]
rs17415408	0.86[EUR][1000 genomes]
rs17415505	0.86[EUR][1000 genomes]
rs4040184	1.00[AFR][1000 genomes]
rs4301614	0.85[TSI][hapmap]
rs55871495	0.86[EUR][1000 genomes]
rs56077197	0.86[EUR][1000 genomes]
rs56124956	0.86[EUR][1000 genomes]
rs60397531	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61801182	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61801184	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61801185	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61801186	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61801187	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61801189	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61801191	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61801234	0.86[EUR][1000 genomes]
rs61801235	0.86[EUR][1000 genomes]
rs61801236	0.83[EUR][1000 genomes]
rs61801237	0.86[EUR][1000 genomes]
rs61801238	0.86[EUR][1000 genomes]
rs61801239	0.86[EUR][1000 genomes]
rs61801242	0.86[EUR][1000 genomes]
rs61801244	0.86[EUR][1000 genomes]
rs61801245	0.86[EUR][1000 genomes]
rs72706008	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72706014	0.86[EUR][1000 genomes]
rs72706023	0.86[EUR][1000 genomes]
rs72706028	0.86[EUR][1000 genomes]
rs905590	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[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	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

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161697800-161706600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:161698000-161706000	Enhancers	NHEK	skin
3	chr1:161698000-161707600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:161698600-161705600	Weak transcription	A549	lung
5	chr1:161699200-161707400	Enhancers	HMEC	breast
6	chr1:161700200-161707800	Weak transcription	Primary B cells from peripheral blood	blood
7	chr1:161700200-161708400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr1:161700600-161705400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:161700600-161705600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:161700600-161706000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:161700600-161706200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:161700800-161705600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr1:161700800-161706000	Weak transcription	Hela-S3	cervix
14	chr1:161701000-161706000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr1:161701400-161706000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr1:161701800-161705600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr1:161703400-161706000	Weak transcription	K562	blood
18	chr1:161704000-161706000	Weak transcription	NH-A	brain
19	chr1:161704000-161706200	Weak transcription	HSMM	muscle
20	chr1:161704000-161706400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:161704000-161706400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:161704000-161706400	Weak transcription	NHLF	lung
23	chr1:161704000-161708600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr1:161704000-161713800	Weak transcription	HUVEC	blood vessel
25	chr1:161704200-161706000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr1:161704200-161706000	Weak transcription	Osteobl	bone
27	chr1:161704200-161709000	Weak transcription	Placenta	Placenta
28	chr1:161704400-161705200	Weak transcription	HSMMtube	muscle
29	chr1:161704400-161705400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:161704400-161705400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:161704400-161705400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr1:161704400-161706000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr1:161704400-161706200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:161704600-161706200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:161704600-161706200	Weak transcription	NHDF-Ad	bronchial
36	chr1:161705000-161705600	Enhancers	GM12878-XiMat	blood
37	chr1:161705000-161707200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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