Variant report

Variant	rs16969984
Chromosome Location	chr17:45705442-45705443
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45694079..45700174-chr17:45702807..45705612,6	K562	blood:
2	chr17:45694079..45699753-chr17:45702807..45705502,5	K562	blood:

Variant related genes	Relation type
ENSG00000141279	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11079780	0.81[ASN][1000 genomes]
rs1136613	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1136614	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];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16942128	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16958421	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2240017	0.81[JPT][hapmap]
rs3956021	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs56767960	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57517565	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59583855	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59866241	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59911216	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60014739	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61419652	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8071832	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9789082	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv525267	chr17:45451894-45735706	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	esv1811231	chr17:45520374-45764956	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	esv1813964	chr17:45520374-45764956	Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv2758458	chr17:45520374-45764956	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	esv2758693	chr17:45520374-45764956	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv428344	chr17:45520374-45764956	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45667400-45718200	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr17:45689200-45707800	Weak transcription	Gastric	stomach
3	chr17:45691800-45716600	Weak transcription	Right Ventricle	heart
4	chr17:45692800-45714600	Weak transcription	Aorta	Aorta
5	chr17:45696600-45709200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr17:45696600-45713600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr17:45696600-45726000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr17:45696800-45707200	Weak transcription	Ovary	ovary
9	chr17:45696800-45726200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr17:45697000-45725800	Weak transcription	Brain Substantia Nigra	brain
11	chr17:45697200-45713400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr17:45697200-45713600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr17:45697200-45726000	Weak transcription	Brain Angular Gyrus	brain
14	chr17:45698000-45716000	Weak transcription	Psoas Muscle	Psoas
15	chr17:45698600-45714400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr17:45699400-45707200	Weak transcription	Pancreas	Pancrea
17	chr17:45699400-45707200	Weak transcription	Right Atrium	heart
18	chr17:45699400-45726000	Weak transcription	Brain Anterior Caudate	brain
19	chr17:45699400-45726200	Weak transcription	Fetal Kidney	kidney
20	chr17:45699600-45713800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr17:45699800-45707200	Weak transcription	Stomach Mucosa	stomach
22	chr17:45699800-45707800	Weak transcription	K562	blood
23	chr17:45699800-45712600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr17:45699800-45713400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr17:45699800-45717600	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr17:45700000-45707200	Weak transcription	Fetal Lung	lung
27	chr17:45700000-45710000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr17:45700000-45714000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr17:45700000-45725600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr17:45700000-45725800	Weak transcription	Spleen	Spleen
31	chr17:45700200-45707400	Weak transcription	Fetal Heart	heart
32	chr17:45700200-45708000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr17:45700200-45713000	Weak transcription	Brain Germinal Matrix	brain
34	chr17:45700400-45725800	Weak transcription	Primary B cells from peripheral blood	blood
35	chr17:45700600-45725200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr17:45701200-45711600	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr17:45701200-45713000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr17:45701400-45705600	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr17:45701400-45707400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr17:45701400-45711000	Weak transcription	HMEC	breast
41	chr17:45701400-45711200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr17:45701400-45711200	Weak transcription	Primary B cells from cord blood	blood
43	chr17:45701400-45711200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr17:45701400-45711200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr17:45701400-45713200	Weak transcription	HUVEC	blood vessel
46	chr17:45701400-45718800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr17:45701400-45724800	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr17:45701400-45725600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr17:45701400-45725800	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr17:45701400-45725800	Weak transcription	Left Ventricle	heart

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