Variant report

Variant	rs7198464
Chromosome Location	chr16:80665841-80665842
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr16:80665540-80665888	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:80657007..80659717-chr16:80664386..80666332,2	K562	blood:
2	chr16:80654063..80656286-chr16:80664938..80666580,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260064	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1109548	1.00[JPT][hapmap]
rs11861858	1.00[JPT][hapmap]
rs13330810	1.00[JPT][hapmap]
rs13334543	1.00[JPT][hapmap]
rs13334600	1.00[JPT][hapmap]
rs1470822	1.00[JPT][hapmap]
rs16953628	1.00[JPT][hapmap]
rs16953639	1.00[JPT][hapmap]
rs16953641	1.00[JPT][hapmap]
rs16953658	1.00[JPT][hapmap]
rs2167672	1.00[JPT][hapmap]
rs56735556	1.00[ASN][1000 genomes]
rs57313656	1.00[ASN][1000 genomes]
rs57615933	1.00[ASN][1000 genomes]
rs60026106	1.00[ASN][1000 genomes]
rs60746911	1.00[ASN][1000 genomes]
rs61559053	1.00[ASN][1000 genomes]
rs7198309	1.00[ASN][1000 genomes]
rs8045496	1.00[JPT][hapmap]
rs896624	1.00[JPT][hapmap]
rs966671	1.00[JPT][hapmap]

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	nsv1060621	chr16:80532848-80980616	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv542989	chr16:80532848-80980616	Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv1056083	chr16:80636184-80666779	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1055196	chr16:80647550-80672417	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1057562	chr16:80650768-80675842	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1058764	chr16:80656966-80707848	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1057357	chr16:80662770-80794945	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80630600-80668000	Weak transcription	Fetal Kidney	kidney
2	chr16:80640800-80669200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr16:80642200-80668200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr16:80644200-80666200	Weak transcription	Brain Substantia Nigra	brain
5	chr16:80646600-80687800	Weak transcription	Pancreas	Pancrea
6	chr16:80653200-80668200	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr16:80653600-80666800	Weak transcription	Esophagus	oesophagus
8	chr16:80653600-80667400	Weak transcription	Fetal Stomach	stomach
9	chr16:80654400-80667800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr16:80654400-80668800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr16:80657200-80668000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr16:80658000-80667200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr16:80658000-80668200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr16:80658400-80666600	Weak transcription	HUVEC	blood vessel
15	chr16:80658800-80668200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr16:80660000-80668800	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr16:80660200-80666800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr16:80661400-80667600	Strong transcription	Hela-S3	cervix
19	chr16:80661600-80666800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr16:80662200-80669000	Weak transcription	Brain Hippocampus Middle	brain
21	chr16:80662400-80668600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr16:80662600-80666600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr16:80663000-80668400	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr16:80663000-80669200	Weak transcription	Liver	Liver
25	chr16:80663200-80666600	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr16:80663200-80667200	Strong transcription	Placenta	Placenta
27	chr16:80663200-80668600	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr16:80663200-80690200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr16:80663400-80666600	Weak transcription	Lung	lung
30	chr16:80663400-80666600	Weak transcription	Spleen	Spleen
31	chr16:80663400-80668800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr16:80664200-80675800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr16:80665200-80668600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr16:80665400-80666000	Strong transcription	Primary hematopoietic stem cells	blood
35	chr16:80665400-80666600	Weak transcription	Aorta	Aorta
36	chr16:80665400-80666600	Weak transcription	Fetal Intestine Small	intestine
37	chr16:80665400-80677200	Weak transcription	Gastric	stomach
38	chr16:80665600-80667600	Strong transcription	Duodenum Mucosa	Duodenum
39	chr16:80665800-80667000	Strong transcription	Adipose Nuclei	Adipose

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