Variant report

Variant	rs8078698
Chromosome Location	chr17:46108951-46108952
allele	A/C
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	CTCF	chr17:46108880-46109030	AG09319	gingival:	n/a	chr17:46108966-46108987

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:46107614..46109746-chr17:46202771..46206014,3	K562	blood:
2	chr17:46108859..46110468-chr17:46197931..46199848,2	MCF-7	breast:

Variant related genes	Relation type
COPZ2	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10853092	1.00[CHB][hapmap]
rs1986719	1.00[CHB][hapmap]
rs208016	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs2229368	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs2525100	1.00[CHD][hapmap]
rs2525111	1.00[CHB][hapmap]
rs2597167	1.00[CHD][hapmap]
rs2597170	1.00[CHB][hapmap]
rs28624980	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2923063	0.85[CHD][hapmap]
rs56216222	0.83[ASN][1000 genomes]
rs73325389	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7405753	1.00[CHB][hapmap]
rs8077814	1.00[CHB][hapmap]
rs9899623	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469808	chr17:46049868-46228673	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	nsv482897	chr17:46049868-46228673	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46103600-46110600	Weak transcription	Aorta	Aorta
2	chr17:46104200-46113800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr17:46104400-46109200	Weak transcription	Left Ventricle	heart
4	chr17:46104400-46109400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr17:46104400-46109600	Weak transcription	Ovary	ovary
6	chr17:46104400-46110600	Weak transcription	Spleen	Spleen
7	chr17:46104400-46111000	Weak transcription	Lung	lung
8	chr17:46104400-46114000	Weak transcription	Liver	Liver
9	chr17:46104400-46114000	Weak transcription	Right Ventricle	heart
10	chr17:46104400-46114200	Weak transcription	Brain Substantia Nigra	brain
11	chr17:46104600-46109000	Weak transcription	Fetal Stomach	stomach
12	chr17:46104600-46109200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr17:46104600-46109200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr17:46104600-46113800	Weak transcription	HSMM	muscle
15	chr17:46104600-46114000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr17:46104600-46114000	Weak transcription	Brain Hippocampus Middle	brain
17	chr17:46104800-46109400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr17:46104800-46111000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr17:46104800-46113800	Weak transcription	NHDF-Ad	bronchial
20	chr17:46104800-46114000	Weak transcription	HSMMtube	muscle
21	chr17:46105000-46113800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr17:46105200-46109400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr17:46105400-46114000	Weak transcription	K562	blood
24	chr17:46105600-46114000	Weak transcription	Pancreas	Pancrea
25	chr17:46107600-46109000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr17:46107800-46109000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr17:46108200-46109000	Weak transcription	Fetal Muscle Trunk	muscle
28	chr17:46108200-46110800	Weak transcription	Placenta	Placenta
29	chr17:46108200-46113200	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr17:46108400-46109000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr17:46108400-46109000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr17:46108400-46109000	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr17:46108400-46109200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
34	chr17:46108400-46109400	Weak transcription	NHLF	lung
35	chr17:46108400-46111600	Strong transcription	Fetal Muscle Leg	muscle
36	chr17:46108400-46113800	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr17:46108400-46114000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr17:46108400-46114000	Weak transcription	Adipose Nuclei	Adipose
39	chr17:46108400-46114000	Weak transcription	NH-A	brain
40	chr17:46108400-46114200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr17:46108400-46114200	Weak transcription	Brain Anterior Caudate	brain
42	chr17:46108400-46114200	Weak transcription	Brain Cingulate Gyrus	brain
43	chr17:46108400-46114200	Weak transcription	Esophagus	oesophagus
44	chr17:46108600-46109000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr17:46108600-46109200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr17:46108600-46109400	Weak transcription	Hela-S3	cervix
47	chr17:46108600-46109600	Weak transcription	Osteobl	bone
48	chr17:46108600-46113800	Weak transcription	Colon Smooth Muscle	Colon

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