Variant report

Variant	rs16982263
Chromosome Location	chr19:18305578-18305579
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18303093..18307365-chr19:18386584..18393500,10	K562	blood:
2	chr19:18262556..18266763-chr19:18301801..18307197,7	K562	blood:
3	chr19:18302787..18307396-chr19:18383842..18390051,8	K562	blood:
4	chr19:18301873..18308921-chr19:18309874..18315133,13	MCF-7	breast:
5	chr19:18302080..18305763-chr19:18333769..18336252,4	K562	blood:
6	chr19:18302289..18309850-chr19:18311214..18320810,23	K562	blood:
7	chr19:18283035..18288338-chr19:18301660..18307351,8	K562	blood:
8	chr19:18302942..18305811-chr19:18331893..18333423,2	MCF-7	breast:
9	chr19:18302057..18307216-chr19:18311605..18315914,14	MCF-7	breast:
10	chr19:18304140..18306823-chr19:18518548..18520720,2	K562	blood:
11	chr19:18303589..18305920-chr19:18390305..18393671,4	K562	blood:
12	chr19:18282952..18288338-chr19:18301660..18306832,7	K562	blood:
13	chr19:18261707..18265058-chr19:18302365..18306548,5	K562	blood:
14	chr19:18304435..18306025-chr19:18527889..18530586,2	K562	blood:
15	chr19:18110949..18114806-chr19:18305445..18308231,3	MCF-7	breast:
16	chr19:18268586..18275019-chr19:18302013..18308723,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000130522	Chromatin interaction
ENSG00000269145	Chromatin interaction
ENSG00000268650	Chromatin interaction
ENSG00000105650	Chromatin interaction
ENSG00000268173	Chromatin interaction
ENSG00000105649	Chromatin interaction
ENSG00000267959	Chromatin interaction
ENSG00000105643	Chromatin interaction
ENSG00000105647	Chromatin interaction
ENSG00000216490	Chromatin interaction
ENSG00000221167	Chromatin interaction
ENSG00000130511	Chromatin interaction
ENSG00000130518	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11086095	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11667476	0.95[CEU][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11668048	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11670315	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs200380	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs200383	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2271882	0.83[ASW][hapmap];1.00[CEU][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.86[MKK][hapmap];0.94[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4808759	0.83[ASW][hapmap];0.95[CEU][hapmap];0.91[GIH][hapmap];0.93[LWK][hapmap];0.87[MKK][hapmap];0.97[TSI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4808761	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7125	0.87[LWK][hapmap];0.90[MKK][hapmap];0.86[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055932	chr19:17923918-18369944	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv543923	chr19:17923918-18369944	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking 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	109 gene(s)	inside rSNPs	diseases
3	nsv532614	chr19:18033043-18573963	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
4	esv1837595	chr19:18085428-18393682	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
5	nsv911245	chr19:18206681-18338101	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv833775	chr19:18213761-18390074	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer 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	49 gene(s)	inside rSNPs	diseases
7	nsv911248	chr19:18224729-18338101	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv911249	chr19:18224729-18375846	Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
9	nsv911250	chr19:18224729-18376522	Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
10	nsv911251	chr19:18224729-18422364	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
11	nsv911252	chr19:18234588-18338101	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
12	nsv911253	chr19:18240127-18418044	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
13	nsv916325	chr19:18244780-18534927	Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
14	nsv911254	chr19:18248146-18310678	Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
15	nsv911256	chr19:18255359-18338101	Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
16	nsv911260	chr19:18288069-18386798	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
17	nsv911261	chr19:18288947-18311199	Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
18	nsv911262	chr19:18288947-18312453	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
19	nsv828470	chr19:18289598-18311602	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
20	nsv828471	chr19:18293567-18311602	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
21	nsv819691	chr19:18294153-18312275	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs16982263	CHRM4	trans	multi-tissue	Pritchard
rs16982263	CYP4F8	cis	cerebellum	SCAN
rs16982263	GMIP	cis	cerebellum	SCAN
rs16982263	MPV17L2	cis	parietal	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18303200-18305600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:18304000-18305800	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr19:18304200-18305600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr19:18304200-18305600	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr19:18304200-18305600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr19:18304200-18305600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr19:18304200-18305600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr19:18304200-18305600	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr19:18304200-18305600	Flanking Active TSS	Placenta	Placenta
10	chr19:18304200-18306000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr19:18304200-18306200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr19:18304400-18305600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
13	chr19:18304400-18305600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
14	chr19:18304400-18305600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
15	chr19:18304400-18305600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr19:18304400-18305600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
17	chr19:18304400-18305600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
18	chr19:18304400-18305600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr19:18304400-18305600	Flanking Active TSS	Liver	Liver
20	chr19:18304400-18305600	Flanking Active TSS	Brain Hippocampus Middle	brain
21	chr19:18304400-18305600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
22	chr19:18304400-18305600	Flanking Active TSS	Ovary	ovary
23	chr19:18304400-18305600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr19:18304400-18305600	Flanking Active TSS	Stomach Smooth Muscle	stomach
25	chr19:18304400-18305600	Flanking Active TSS	Osteobl	bone
26	chr19:18304400-18305800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr19:18304600-18305600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr19:18304600-18305600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr19:18304600-18305600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr19:18304600-18305600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr19:18304600-18305600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr19:18304600-18305600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr19:18304600-18305600	Flanking Active TSS	Brain Anterior Caudate	brain
34	chr19:18304600-18305600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr19:18304600-18305600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
36	chr19:18304600-18305600	Flanking Active TSS	Rectal Smooth Muscle	rectum
37	chr19:18304600-18305600	Flanking Active TSS	Right Ventricle	heart
38	chr19:18304600-18305600	Flanking Active TSS	HMEC	breast
39	chr19:18304600-18305600	Flanking Active TSS	HUVEC	blood vessel
40	chr19:18304600-18305600	Flanking Active TSS	K562	blood
41	chr19:18304600-18305600	Flanking Active TSS	NHEK	skin
42	chr19:18304600-18305800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr19:18304600-18306800	Weak transcription	Aorta	Aorta
44	chr19:18304800-18305600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
45	chr19:18304800-18305600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr19:18304800-18305600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr19:18304800-18305600	Enhancers	Lung	lung
48	chr19:18304800-18305600	Enhancers	Placenta Amnion	Placenta Amnion
49	chr19:18304800-18305600	Flanking Active TSS	GM12878-XiMat	blood
50	chr19:18304800-18305600	Flanking Active TSS	NHLF	lung

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