Variant report

Variant	rs9632392
Chromosome Location	chr5:50136631-50136632
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:50127791..50129355-chr5:50135469..50137717,2	MCF-7	breast:
2	chr5:50134167..50137046-chr5:50144951..50147438,2	MCF-7	breast:
3	chr5:50134929..50136632-chr5:50136986..50139711,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12658769	0.89[CHB][hapmap]
rs13158037	0.83[JPT][hapmap]
rs13178549	0.81[AMR][1000 genomes]
rs16884728	0.83[JPT][hapmap]
rs34176744	0.85[ASN][1000 genomes]
rs6873222	1.00[YRI][hapmap]
rs71615979	0.87[AMR][1000 genomes]
rs7700817	0.83[JPT][hapmap]
rs7723602	0.83[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462159	chr5:49960673-50229851	Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv598108	chr5:49960673-50229851	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1034445	chr5:49986171-50492609	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv598116	chr5:50064292-50318550	Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9632392	ARL15	cis	parietal	SCAN
rs9632392	EMB	cis	parietal	SCAN

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:50071600-50138200	Weak transcription	Placenta	Placenta
2	chr5:50078200-50140000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr5:50091200-50140600	Weak transcription	Small Intestine	intestine
4	chr5:50100200-50139400	Weak transcription	Ovary	ovary
5	chr5:50108200-50142800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr5:50109400-50141800	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr5:50110000-50141800	Strong transcription	Primary T cells fromperipheralblood	blood
8	chr5:50110400-50143400	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr5:50110400-50143600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr5:50110800-50140200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr5:50111000-50140800	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr5:50111200-50141600	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr5:50113000-50139800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:50115000-50138000	Weak transcription	Fetal Stomach	stomach
15	chr5:50118600-50139600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr5:50119200-50139800	Weak transcription	Spleen	Spleen
17	chr5:50119200-50144200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr5:50123800-50137600	Strong transcription	Primary T cells from cord blood	blood
19	chr5:50124200-50145200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:50124400-50141400	Weak transcription	Fetal Intestine Large	intestine
21	chr5:50124400-50141600	Weak transcription	Colon Smooth Muscle	Colon
22	chr5:50125000-50140000	Weak transcription	Fetal Lung	lung
23	chr5:50125000-50140600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:50125200-50139800	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr5:50125200-50142800	Weak transcription	HMEC	breast
26	chr5:50125200-50143200	Weak transcription	Left Ventricle	heart
27	chr5:50125400-50149200	Weak transcription	Primary hematopoietic stem cells	blood
28	chr5:50125800-50137600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr5:50125800-50137800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr5:50125800-50138200	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr5:50125800-50143200	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr5:50126400-50143200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr5:50129200-50148400	Weak transcription	GM12878-XiMat	blood
34	chr5:50130600-50141400	Strong transcription	Dnd41	blood
35	chr5:50130800-50138000	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr5:50130800-50141400	Weak transcription	Stomach Smooth Muscle	stomach
37	chr5:50131200-50139000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr5:50131600-50138200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr5:50131600-50138200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr5:50132200-50137800	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr5:50132200-50138200	Weak transcription	Liver	Liver
42	chr5:50132600-50138200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr5:50132600-50141200	Weak transcription	Aorta	Aorta
44	chr5:50132600-50148400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr5:50132800-50137800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr5:50132800-50142200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr5:50133200-50140800	Weak transcription	Duodenum Mucosa	Duodenum
48	chr5:50133400-50137000	Weak transcription	Primary B cells from cord blood	blood
49	chr5:50133400-50150000	Weak transcription	Adipose Nuclei	Adipose
50	chr5:50134000-50137600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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