Variant report

Variant	rs9630185
Chromosome Location	chr11:5830203-5830204
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:5621238..5622269-chr11:5829297..5830332,4	MCF-7	breast:
2	chr11:5829421..5830302-chr11:5912492..5913020,2	MCF-7	breast:
3	chr11:5823269..5825988-chr11:5829238..5831177,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10742794	0.88[EUR][1000 genomes]
rs10769250	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10838661	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10838668	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10838672	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10838673	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10838674	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10838675	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10838680	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11039085	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11039150	0.96[ASN][1000 genomes]
rs11500473	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12226188	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12279684	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35271555	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35898746	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57482916	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7112569	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7115498	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7122745	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8181512	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs8181529	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9630186	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046068	chr11:5335943-6063742	Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv553241	chr11:5506034-6203685	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
3	nsv1053414	chr11:5612989-6030212	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv530216	chr11:5614439-6468232	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	nsv553273	chr11:5639873-5871831	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv1036389	chr11:5695451-6177680	Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
7	nsv540943	chr11:5695451-6177680	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
8	nsv553277	chr11:5722948-6010075	Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
9	esv1843296	chr11:5730377-5970717	Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
10	esv2758255	chr11:5730377-5970717	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
11	esv2759801	chr11:5730377-6007613	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
12	nsv832058	chr11:5747594-5926814	Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
13	nsv896951	chr11:5773981-5832191	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
14	esv2757421	chr11:5776623-5842356	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
15	esv1837262	chr11:5808353-5830288	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9630185	OR52N3P	cis	lung	GTEx
rs9630185	OR52N3P	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5828800-5832200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr11:5829600-5830600	Active TSS	iPS-18 Cell Line	embryonic stem cell
3	chr11:5829600-5830600	Active TSS	Primary T helper naive cells from peripheral blood	blood
4	chr11:5829600-5830600	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr11:5829600-5830600	Active TSS	Colon Smooth Muscle	Colon
6	chr11:5829600-5830600	Bivalent/Poised TSS	Fetal Kidney	kidney
7	chr11:5829600-5830800	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr11:5829600-5830800	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr11:5829600-5830800	Flanking Bivalent TSS/Enh	Dnd41	blood
10	chr11:5829800-5830400	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr11:5829800-5830400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr11:5829800-5830400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr11:5829800-5830400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:5829800-5830400	Active TSS	H9 Cell Line	embryonic stem cell
15	chr11:5829800-5830400	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr11:5829800-5830400	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr11:5829800-5830400	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr11:5829800-5830400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr11:5829800-5830400	Active TSS	Primary monocytes fromperipheralblood	blood
20	chr11:5829800-5830400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
21	chr11:5829800-5830400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr11:5829800-5830400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
23	chr11:5829800-5830400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr11:5829800-5830400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr11:5829800-5830400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr11:5829800-5830400	Flanking Active TSS	Adipose Nuclei	Adipose
27	chr11:5829800-5830400	Flanking Active TSS	Liver	Liver
28	chr11:5829800-5830400	Flanking Bivalent TSS/Enh	Brain Angular Gyrus	brain
29	chr11:5829800-5830400	Flanking Active TSS	Brain Germinal Matrix	brain
30	chr11:5829800-5830400	Flanking Active TSS	Duodenum Mucosa	Duodenum
31	chr11:5829800-5830400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
32	chr11:5829800-5830400	Active TSS	Fetal Brain Female	brain
33	chr11:5829800-5830400	Flanking Active TSS	Placenta	Placenta
34	chr11:5829800-5830400	Flanking Active TSS	Fetal Thymus	thymus
35	chr11:5829800-5830400	Active TSS	Gastric	stomach
36	chr11:5829800-5830400	Active TSS	Lung	lung
37	chr11:5829800-5830400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
38	chr11:5829800-5830400	Bivalent/Poised TSS	A549	lung
39	chr11:5829800-5830400	Flanking Bivalent TSS/Enh	HepG2	liver
40	chr11:5829800-5830600	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr11:5829800-5830600	Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr11:5829800-5830600	Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr11:5829800-5830600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr11:5829800-5830600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
45	chr11:5829800-5830600	Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr11:5829800-5830600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
47	chr11:5829800-5830600	Active TSS	Primary T killer memory cells from peripheral blood	blood
48	chr11:5829800-5830600	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
49	chr11:5829800-5830600	Active TSS	Thymus	Thymus
50	chr11:5829800-5830600	Bivalent/Poised TSS	HSMMtube	muscle

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