Variant report

Variant	rs16959491
Chromosome Location	chr17:15868824-15868825
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:15866407..15869569-chr17:15884863..15887251,3	K562	blood:
2	chr17:15860784..15862668-chr17:15867479..15869134,2	MCF-7	breast:

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1073093	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap]
rs1073094	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1073095	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1076423	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1076424	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11554356	0.83[ASN][1000 genomes]
rs11871230	1.00[EUR][1000 genomes]
rs11871236	1.00[CEU][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12602291	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16959544	1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap]
rs16959547	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap]
rs17715109	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3744328	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.83[ASN][1000 genomes]
rs3760295	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap]
rs3826361	1.00[EUR][1000 genomes]
rs55978925	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs56054575	0.83[ASN][1000 genomes]
rs56190835	0.83[ASN][1000 genomes]
rs56195102	0.83[ASN][1000 genomes]
rs56250180	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs58883023	0.83[ASN][1000 genomes]
rs59665399	0.83[ASN][1000 genomes]
rs60198485	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61365058	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61530520	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6502476	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6502477	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6502483	0.81[TSI][hapmap]
rs6502484	0.83[ASN][1000 genomes]
rs7209240	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7218471	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7224403	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs73978569	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73978571	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73978572	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73978591	0.83[ASN][1000 genomes]
rs73978594	0.83[ASN][1000 genomes]
rs73978602	0.83[ASN][1000 genomes]
rs73981406	0.83[ASN][1000 genomes]
rs73981413	0.83[ASN][1000 genomes]
rs73981414	0.83[ASN][1000 genomes]
rs73981417	0.83[ASN][1000 genomes]
rs73981421	0.83[ASN][1000 genomes]
rs8067494	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.88[TSI][hapmap]
rs8070719	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs8077373	0.82[MEX][hapmap];0.81[TSI][hapmap]
rs8077643	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8078888	0.83[ASN][1000 genomes]
rs8079698	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8079763	1.00[CEU][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934185	chr17:15552960-16551197	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	190 gene(s)	inside rSNPs	diseases
2	nsv1062951	chr17:15561070-15890644	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1066023	chr17:15607267-16053512	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	esv3330182	chr17:15652014-16569534	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
5	esv3446844	chr17:15654843-16572246	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
6	nsv1061222	chr17:15672934-15999778	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
7	nsv907706	chr17:15731923-16056442	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	nsv1067555	chr17:15804228-16001117	Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	nsv1063459	chr17:15804228-16543593	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
10	nsv907707	chr17:15846535-15950751	Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
11	nsv907709	chr17:15851196-15937487	Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
12	nsv907708	chr17:15851196-15950751	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
13	nsv1057493	chr17:15852125-15930718	Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
14	nsv543215	chr17:15852125-15930718	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
15	nsv907710	chr17:15854257-15950751	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15851200-15869600	Weak transcription	Gastric	stomach
2	chr17:15855800-15869800	Weak transcription	Fetal Intestine Small	intestine
3	chr17:15862400-15869800	Weak transcription	Spleen	Spleen
4	chr17:15862600-15869800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr17:15863000-15869200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr17:15863400-15869400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr17:15863400-15869800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr17:15866200-15869800	Enhancers	HMEC	breast
9	chr17:15866400-15871800	Enhancers	NH-A	brain
10	chr17:15866600-15869000	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr17:15866600-15871200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr17:15867200-15869000	Genic enhancers	NHEK	skin
13	chr17:15867400-15869600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr17:15867400-15869600	Weak transcription	NHLF	lung
15	chr17:15867400-15878000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr17:15867600-15869000	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr17:15867600-15869600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr17:15867600-15869800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr17:15868200-15869000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr17:15868200-15869200	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr17:15868200-15869600	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr17:15868200-15870200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr17:15868200-15870200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr17:15868200-15870400	Enhancers	A549	lung
25	chr17:15868200-15870400	Enhancers	Osteobl	bone
26	chr17:15868400-15869000	Enhancers	H9 Cell Line	embryonic stem cell
27	chr17:15868400-15869000	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr17:15868400-15869200	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr17:15868400-15869200	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr17:15868400-15869600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr17:15868400-15869600	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr17:15868400-15869800	Enhancers	H1 Cell Line	embryonic stem cell
33	chr17:15868400-15869800	Enhancers	HUVEC	blood vessel
34	chr17:15868400-15870000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr17:15868400-15870000	Enhancers	Thymus	Thymus
36	chr17:15868400-15870600	Enhancers	HSMM	muscle
37	chr17:15868400-15871400	Enhancers	Hela-S3	cervix
38	chr17:15868400-15871400	Enhancers	NHDF-Ad	bronchial
39	chr17:15868400-15871600	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr17:15868600-15869000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr17:15868600-15869000	Bivalent Enhancer	GM12878-XiMat	blood
42	chr17:15868600-15869400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr17:15868600-15869400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr17:15868600-15869400	Enhancers	Primary T cells from cord blood	blood
45	chr17:15868600-15869400	Enhancers	Lung	lung
46	chr17:15868600-15869600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr17:15868600-15869600	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr17:15868600-15869600	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr17:15868600-15869800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
50	chr17:15868600-15869800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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