Variant report

Variant	rs5763138
Chromosome Location	chr22:29717716-29717717
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:29702571..29704747-chr22:29716652..29718992,2	MCF-7	breast:
2	chr22:29717667..29719762-chr22:29731964..29734641,2	MCF-7	breast:
3	chr22:29712103..29714996-chr22:29717007..29719559,3	MCF-7	breast:
4	chr22:29704768..29706985-chr22:29716394..29718167,2	MCF-7	breast:
5	chr22:29712077..29714409-chr22:29715175..29718076,3	K562	blood:

Variant related genes	Relation type
ENSG00000185340	Chromatin interaction
ENSG00000273216	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs11090564	0.94[CHB][hapmap];0.87[CHD][hapmap];0.87[GIH][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs131180	0.87[ASN][1000 genomes]
rs131182	0.84[ASN][1000 genomes]
rs131189	0.84[ASN][1000 genomes]
rs140062	1.00[CHB][hapmap];0.84[CHD][hapmap];0.87[GIH][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs140063	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs140066	0.88[ASN][1000 genomes]
rs174759	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs174761	1.00[CHB][hapmap];0.84[CHD][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs174762	1.00[CHB][hapmap];0.87[CHD][hapmap];0.87[GIH][hapmap];0.89[JPT][hapmap]
rs174764	1.00[CHB][hapmap];0.87[CHD][hapmap];0.89[GIH][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]
rs174765	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs174766	1.00[CHB][hapmap];0.84[CHD][hapmap];0.81[GIH][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]
rs174767	0.82[ASN][1000 genomes]
rs174769	0.88[ASN][1000 genomes]
rs174770	0.88[CHB][hapmap];0.84[JPT][hapmap];0.88[ASN][1000 genomes]
rs174771	0.88[ASN][1000 genomes]
rs2071578	1.00[CHB][hapmap];0.87[CHD][hapmap];0.83[GIH][hapmap];0.89[JPT][hapmap];0.97[ASN][1000 genomes]
rs2072051	0.88[CHB][hapmap];0.84[CHD][hapmap];0.80[GIH][hapmap];0.84[JPT][hapmap];0.88[ASN][1000 genomes]
rs2267132	0.82[CHB][hapmap]
rs2267133	0.88[CHB][hapmap];0.84[CHD][hapmap];0.80[GIH][hapmap];0.84[JPT][hapmap]
rs2283849	1.00[CHB][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]
rs2283850	0.88[CHB][hapmap];0.84[JPT][hapmap];0.88[ASN][1000 genomes]
rs2283852	0.81[CHD][hapmap]
rs2301290	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs2301585	1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs2519486	0.81[ASN][1000 genomes]
rs2857462	0.87[ASN][1000 genomes]
rs2857466	0.83[JPT][hapmap]
rs28755	0.90[ASN][1000 genomes]
rs3788410	1.00[CHB][hapmap];0.81[CHD][hapmap];0.89[GIH][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs3788411	1.00[CHB][hapmap];0.87[CHD][hapmap];0.85[GIH][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs3788412	0.81[CHD][hapmap]
rs4820803	1.00[CHB][hapmap];0.81[CHD][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs4820804	1.00[CHB][hapmap];0.81[CHD][hapmap];0.94[JPT][hapmap]
rs5752903	0.88[CHB][hapmap];0.81[CHD][hapmap];0.88[ASN][1000 genomes]
rs5752907	0.81[CHD][hapmap]
rs5763139	1.00[CHB][hapmap];0.94[JPT][hapmap];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5763144	0.81[ASN][1000 genomes]
rs5763178	0.88[ASN][1000 genomes]
rs5763182	0.81[CHD][hapmap]
rs6006090	1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[YRI][hapmap]
rs6006098	1.00[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs6006108	0.81[CHD][hapmap]
rs715494	0.88[CHB][hapmap];0.84[CHD][hapmap];0.80[GIH][hapmap];0.84[JPT][hapmap];0.86[ASN][1000 genomes]
rs737883	0.81[CHD][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs879580	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs9537	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs98069	1.00[CHB][hapmap];0.84[CHD][hapmap];0.85[GIH][hapmap];0.89[JPT][hapmap];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv829154	chr22:29617485-29724001	Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv834171	chr22:29626402-29829844	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv829155	chr22:29664396-29724001	Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS 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	21 gene(s)	inside rSNPs	diseases
5	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs5763138	RNF185	cis	parietal	SCAN

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29707400-29740000	Weak transcription	Hela-S3	cervix
2	chr22:29711000-29722200	Weak transcription	Brain Substantia Nigra	brain
3	chr22:29711400-29722000	Weak transcription	Gastric	stomach
4	chr22:29711600-29722000	Weak transcription	Dnd41	blood
5	chr22:29711600-29722200	Weak transcription	Brain Anterior Caudate	brain
6	chr22:29711600-29722200	Weak transcription	Lung	lung
7	chr22:29711800-29722600	Weak transcription	Aorta	Aorta
8	chr22:29711800-29722600	Weak transcription	Left Ventricle	heart
9	chr22:29711800-29733400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr22:29712000-29722200	Weak transcription	Right Ventricle	heart
11	chr22:29712200-29722200	Weak transcription	Brain Hippocampus Middle	brain
12	chr22:29712200-29722200	Weak transcription	Pancreas	Pancrea
13	chr22:29712200-29722400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr22:29713000-29721400	Weak transcription	Placenta	Placenta
15	chr22:29713400-29722600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr22:29713600-29722000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr22:29713800-29722400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr22:29714400-29722200	Weak transcription	Thymus	Thymus
19	chr22:29714800-29721400	Weak transcription	Fetal Intestine Small	intestine
20	chr22:29715000-29719000	Weak transcription	Liver	Liver
21	chr22:29715000-29722000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr22:29715000-29722600	Weak transcription	Primary B cells from peripheral blood	blood
23	chr22:29715800-29721400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr22:29716000-29722000	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr22:29716000-29722400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr22:29716200-29722000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr22:29716400-29721400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr22:29716800-29721400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr22:29716800-29721800	Weak transcription	Primary T cells from cord blood	blood
30	chr22:29717000-29719400	Weak transcription	Fetal Brain Male	brain
31	chr22:29717000-29722000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr22:29717000-29722200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr22:29717200-29719800	Weak transcription	Fetal Brain Female	brain
34	chr22:29717200-29721800	Weak transcription	Fetal Muscle Trunk	muscle
35	chr22:29717200-29722000	Weak transcription	Duodenum Mucosa	Duodenum
36	chr22:29717200-29722200	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr22:29717200-29722200	Weak transcription	Fetal Intestine Large	intestine
38	chr22:29717200-29722400	Weak transcription	Brain Germinal Matrix	brain
39	chr22:29717400-29722000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr22:29717400-29722200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr22:29717400-29722400	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr22:29717400-29722600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr22:29717400-29723000	Weak transcription	Fetal Thymus	thymus
44	chr22:29717600-29722600	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr22:29717600-29723000	Weak transcription	Primary T cells fromperipheralblood	blood

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