Variant report

Variant	rs702623
Chromosome Location	chr5:53232366-53232367
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs16881885	0.95[CHB][hapmap];0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs2035770	0.94[CEU][hapmap];0.90[CHB][hapmap];0.88[JPT][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3756492	0.95[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs3776738	0.90[CHB][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs3776739	0.90[CHB][hapmap];0.85[CHD][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs3797278	0.95[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs697091	0.90[ASN][1000 genomes]
rs702617	0.95[CHB][hapmap];0.84[JPT][hapmap];0.91[ASN][1000 genomes]
rs702620	0.81[ASW][hapmap];0.89[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];0.93[GIH][hapmap];0.84[JPT][hapmap];0.88[LWK][hapmap];0.94[MEX][hapmap];0.90[MKK][hapmap];0.94[TSI][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs702621	0.95[CHB][hapmap];0.84[JPT][hapmap];0.93[ASN][1000 genomes]
rs702624	0.94[ASN][1000 genomes]
rs713210	0.94[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];0.83[JPT][hapmap];0.88[MEX][hapmap];0.94[TSI][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs718086	0.80[CHB][hapmap];0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs73757126	0.87[ASN][1000 genomes]
rs7701382	0.85[CHB][hapmap];0.89[JPT][hapmap];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752745	chr5:52422063-53343529	Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1032632	chr5:52667145-53655624	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1032504	chr5:52908394-53398435	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv537763	chr5:52908394-53398435	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv533778	chr5:53092696-53284566	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv880713	chr5:53198059-53906103	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv830299	chr5:53207020-53386600	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
8	nsv880272	chr5:53213945-53277266	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs702623	ZNF85	trans	parietal	SCAN

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:53187600-53232800	Weak transcription	Primary T cells from cord blood	blood
2	chr5:53200800-53251600	Weak transcription	Primary B cells from cord blood	blood
3	chr5:53206800-53236600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:53213800-53235200	Weak transcription	Fetal Intestine Small	intestine
5	chr5:53214000-53238600	Weak transcription	K562	blood
6	chr5:53217200-53244800	Weak transcription	Pancreas	Pancrea
7	chr5:53220600-53251600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr5:53224200-53232400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:53224800-53232400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr5:53224800-53238800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr5:53225800-53236600	Weak transcription	Lung	lung
12	chr5:53226200-53235800	Weak transcription	Fetal Intestine Large	intestine
13	chr5:53226800-53251200	Weak transcription	Primary B cells from peripheral blood	blood
14	chr5:53229600-53233000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr5:53230000-53234800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr5:53230400-53232400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr5:53230400-53241200	Weak transcription	Fetal Brain Male	brain
18	chr5:53230600-53233600	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr5:53230800-53232400	Weak transcription	NHDF-Ad	bronchial
20	chr5:53231000-53233000	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr5:53231000-53244600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr5:53231200-53232600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:53231200-53233000	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr5:53231200-53233400	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr5:53231200-53242600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr5:53231200-53242600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr5:53231400-53232800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr5:53231400-53232800	Weak transcription	Brain Anterior Caudate	brain
29	chr5:53231400-53232800	Weak transcription	Ovary	ovary
30	chr5:53231400-53235200	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr5:53231400-53237600	Weak transcription	Fetal Kidney	kidney
32	chr5:53231600-53238800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr5:53231800-53232800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr5:53231800-53233400	Enhancers	Fetal Heart	heart
35	chr5:53232000-53232400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr5:53232000-53233200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr5:53232000-53233600	Enhancers	Adipose Nuclei	Adipose
38	chr5:53232000-53233600	Enhancers	Fetal Lung	lung
39	chr5:53232000-53233800	Enhancers	Fetal Stomach	stomach
40	chr5:53232200-53232400	Enhancers	Liver	Liver
41	chr5:53232200-53232400	Enhancers	HSMMtube	muscle
42	chr5:53232200-53232400	Enhancers	NHLF	lung
43	chr5:53232200-53232600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr5:53232200-53232600	Enhancers	Hela-S3	cervix
45	chr5:53232200-53232600	Weak transcription	Osteobl	bone
46	chr5:53232200-53232800	Enhancers	H9 Cell Line	embryonic stem cell
47	chr5:53232200-53233000	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr5:53232200-53233200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr5:53232200-53233200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr5:53232200-53233800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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