Variant report

Variant	rs4979334
Chromosome Location	chr9:116807791-116807792
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10982045	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12335772	0.93[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12343684	0.93[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2025391	0.82[EUR][1000 genomes]
rs3827675	1.00[CEU][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4979328	1.00[CEU][hapmap];0.82[TSI][hapmap];0.94[EUR][1000 genomes]
rs7023899	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];0.94[MEX][hapmap];0.80[TSI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7023951	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];0.94[MEX][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[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	nsv430093	chr9:116330446-117325446	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
2	esv2422396	chr9:116792944-117354862	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers 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 miRNA target site	155 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4979334	SLC46A2	cis	parietal	SCAN

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116766600-116811200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr9:116773600-116809200	Weak transcription	Fetal Heart	heart
3	chr9:116785200-116811200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr9:116785400-116810600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr9:116787000-116812800	Weak transcription	Primary B cells from cord blood	blood
6	chr9:116789600-116808600	Weak transcription	HMEC	breast
7	chr9:116792200-116810400	Weak transcription	Thymus	Thymus
8	chr9:116793200-116811200	Weak transcription	Stomach Mucosa	stomach
9	chr9:116793200-116812200	Weak transcription	K562	blood
10	chr9:116793200-116813800	Weak transcription	NHEK	skin
11	chr9:116795200-116821800	Weak transcription	Right Atrium	heart
12	chr9:116796200-116815800	Weak transcription	Small Intestine	intestine
13	chr9:116799000-116811200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr9:116799200-116811200	Weak transcription	Colon Smooth Muscle	Colon
15	chr9:116799400-116810600	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr9:116799400-116810800	Weak transcription	Colonic Mucosa	Colon
17	chr9:116799600-116810200	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr9:116799800-116810000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr9:116799800-116810200	Weak transcription	HSMMtube	muscle
20	chr9:116799800-116810600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr9:116800000-116809200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr9:116800000-116810200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr9:116800000-116810200	Weak transcription	Duodenum Mucosa	Duodenum
24	chr9:116800000-116810800	Weak transcription	Brain Angular Gyrus	brain
25	chr9:116800000-116811200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr9:116800000-116811200	Weak transcription	Brain Substantia Nigra	brain
27	chr9:116800000-116811200	Weak transcription	Right Ventricle	heart
28	chr9:116800400-116810800	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr9:116800600-116809800	Weak transcription	NHLF	lung
30	chr9:116800800-116810600	Weak transcription	Brain Anterior Caudate	brain
31	chr9:116800800-116811000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr9:116800800-116811200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr9:116801000-116809800	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr9:116801000-116810000	Weak transcription	Aorta	Aorta
35	chr9:116801000-116810000	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr9:116801000-116810200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr9:116801000-116810400	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr9:116801000-116810400	Weak transcription	Fetal Brain Female	brain
39	chr9:116801000-116810600	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr9:116801000-116811200	Weak transcription	Left Ventricle	heart
41	chr9:116801000-116812000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr9:116801200-116810000	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr9:116801200-116810400	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr9:116801200-116810400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr9:116801200-116810800	Weak transcription	Brain Hippocampus Middle	brain
46	chr9:116801400-116809800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr9:116801400-116810200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr9:116801400-116810400	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr9:116801400-116811000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr9:116801600-116808000	Weak transcription	HUVEC	blood vessel

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