Variant report

Variant	rs4704634
Chromosome Location	chr5:79497061-79497062
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:79494988..79497177-chr5:79500013..79503838,4	K562	blood:
2	chr5:79496645..79499185-chr5:79500961..79504091,3	MCF-7	breast:

Extended variants
information (count: 6 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12519047	1.00[ASW][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap]
rs4703804	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4703805	0.82[CHB][hapmap]
rs4704633	1.00[ASW][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.82[ASN][1000 genomes]
rs66738727	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432748	chr5:79300434-79577760	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4704634	CMYA5	cis	parietal	SCAN
rs4704634	MTX3	cis	parietal	SCAN
rs4704634	PDE8B	cis	parietal	SCAN

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79483800-79498200	Weak transcription	NHEK	skin
2	chr5:79488200-79497200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr5:79489000-79500800	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr5:79489200-79500800	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr5:79489400-79498200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:79489600-79498200	Weak transcription	Aorta	Aorta
7	chr5:79489600-79499600	Weak transcription	NH-A	brain
8	chr5:79489600-79500400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr5:79489800-79498000	Weak transcription	HMEC	breast
10	chr5:79489800-79500000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:79489800-79500800	Weak transcription	HSMM	muscle
12	chr5:79489800-79502000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:79490200-79498400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr5:79490200-79499600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:79490400-79498800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:79490800-79498200	Weak transcription	Primary B cells from cord blood	blood
17	chr5:79490800-79498200	Weak transcription	Spleen	Spleen
18	chr5:79490800-79499600	Weak transcription	Fetal Brain Male	brain
19	chr5:79490800-79500200	Weak transcription	Small Intestine	intestine
20	chr5:79490800-79500800	Weak transcription	HSMMtube	muscle
21	chr5:79490800-79513800	Weak transcription	Fetal Kidney	kidney
22	chr5:79491600-79500400	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr5:79491800-79500800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr5:79491800-79501000	Genic enhancers	Primary T cells fromperipheralblood	blood
25	chr5:79492000-79499600	Strong transcription	Fetal Intestine Small	intestine
26	chr5:79492000-79500000	Strong transcription	Fetal Stomach	stomach
27	chr5:79492000-79500200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
28	chr5:79492000-79504200	Weak transcription	Colon Smooth Muscle	Colon
29	chr5:79492200-79497400	Genic enhancers	Primary T cells from cord blood	blood
30	chr5:79492200-79497400	Weak transcription	Rectal Smooth Muscle	rectum
31	chr5:79492200-79498400	Strong transcription	Liver	Liver
32	chr5:79492200-79498800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr5:79492200-79499000	Strong transcription	Thymus	Thymus
34	chr5:79492200-79500200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr5:79492200-79500400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr5:79492200-79501800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr5:79492200-79506200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr5:79492400-79500400	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr5:79493200-79499800	Strong transcription	Sigmoid Colon	Sigmoid Colon
40	chr5:79493400-79501000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
41	chr5:79493400-79501000	Strong transcription	Dnd41	blood
42	chr5:79494000-79499600	Strong transcription	Fetal Intestine Large	intestine
43	chr5:79494200-79499000	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr5:79494200-79500800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
45	chr5:79494400-79498600	Weak transcription	Pancreas	Pancrea
46	chr5:79494400-79499000	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr5:79494400-79499600	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr5:79494600-79498800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr5:79494600-79498800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr5:79494600-79499000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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