Variant report

Variant	rs2008905
Chromosome Location	chr11:17184623-17184624
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:17182736..17185668-chr11:17187012..17188861,2	K562	blood:
2	chr11:17183106..17184886-chr11:17186963..17189434,2	MCF-7	breast:

Extended variants
information (count: 55 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10832739	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10832743	0.83[EUR][1000 genomes]
rs11024158	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11024159	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11024163	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12280930	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12286505	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1236309	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12801545	0.85[EUR][1000 genomes]
rs12804000	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1685932	0.83[EUR][1000 genomes]
rs1989405	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2052188	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs214900	0.83[EUR][1000 genomes]
rs214901	0.83[EUR][1000 genomes]
rs214906	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs214935	0.81[EUR][1000 genomes]
rs214936	0.83[EUR][1000 genomes]
rs214937	0.82[EUR][1000 genomes]
rs214939	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs214940	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4356203	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs511119	0.83[EUR][1000 genomes]
rs512852	0.83[EUR][1000 genomes]
rs527810	0.81[EUR][1000 genomes]
rs536628	0.83[EUR][1000 genomes]
rs545773	0.83[EUR][1000 genomes]
rs550667	0.83[EUR][1000 genomes]
rs553711	0.81[EUR][1000 genomes]
rs577207	0.82[EUR][1000 genomes]
rs589319	0.83[EUR][1000 genomes]
rs594034	0.81[EUR][1000 genomes]
rs598946	0.83[EUR][1000 genomes]
rs620241	0.83[EUR][1000 genomes]
rs621246	0.83[EUR][1000 genomes]
rs635802	0.83[EUR][1000 genomes]
rs6486352	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6486354	0.83[EUR][1000 genomes]
rs651513	0.82[EUR][1000 genomes]
rs656623	0.82[EUR][1000 genomes]
rs662711	0.83[EUR][1000 genomes]
rs667984	0.83[EUR][1000 genomes]
rs677540	0.83[EUR][1000 genomes]
rs680205	0.83[EUR][1000 genomes]
rs7118006	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7123301	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7396382	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7396958	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7935219	0.82[EUR][1000 genomes]
rs7946010	0.84[AMR][1000 genomes];0.83[EUR][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	nsv467711	chr11:17027555-17320797	Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv553568	chr11:17027555-17320797	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv7691	chr11:17151593-17196894	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv469762	chr11:17170690-17320691	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers 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	24 gene(s)	inside rSNPs	diseases
5	nsv482905	chr11:17170690-17320691	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2008905	OR7E14P	cis	Nerve Tibial	GTEx
rs2008905	NUCB2	Cis_1M	lymphoblastoid	RTeQTL
rs2008905	OR7E14P	cis	Esophagus Mucosa	GTEx

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17126800-17186400	Weak transcription	Colonic Mucosa	Colon
2	chr11:17130200-17203800	Weak transcription	Aorta	Aorta
3	chr11:17144200-17192800	Weak transcription	NHDF-Ad	bronchial
4	chr11:17150800-17186000	Weak transcription	NHLF	lung
5	chr11:17156400-17186400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr11:17156400-17186600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:17156600-17219200	Weak transcription	HSMMtube	muscle
8	chr11:17158000-17215600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr11:17164400-17186200	Weak transcription	A549	lung
10	chr11:17165200-17215200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr11:17166200-17190200	Weak transcription	NH-A	brain
12	chr11:17167000-17186000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr11:17167000-17188600	Weak transcription	Fetal Stomach	stomach
14	chr11:17167000-17188800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr11:17167400-17185000	Weak transcription	Ovary	ovary
16	chr11:17167400-17186800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr11:17167400-17190200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr11:17167400-17190400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr11:17167400-17204400	Weak transcription	Thymus	Thymus
20	chr11:17167400-17212600	Weak transcription	Stomach Smooth Muscle	stomach
21	chr11:17167400-17228000	Weak transcription	Fetal Thymus	thymus
22	chr11:17167600-17186400	Weak transcription	HMEC	breast
23	chr11:17168000-17190200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr11:17168200-17185000	Weak transcription	Right Ventricle	heart
25	chr11:17168200-17193800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr11:17169400-17185600	Weak transcription	Hela-S3	cervix
27	chr11:17169400-17190600	Weak transcription	HSMM	muscle
28	chr11:17170800-17186400	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr11:17171400-17186200	Weak transcription	Osteobl	bone
30	chr11:17172600-17214600	Weak transcription	Fetal Brain Female	brain
31	chr11:17173000-17186600	Weak transcription	NHEK	skin
32	chr11:17173600-17190200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr11:17176200-17186200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr11:17176600-17185400	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr11:17176600-17185400	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr11:17176600-17185800	Weak transcription	Duodenum Mucosa	Duodenum
37	chr11:17176600-17190200	Weak transcription	Fetal Intestine Large	intestine
38	chr11:17176800-17188600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr11:17176800-17190200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr11:17177000-17186000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr11:17177000-17187800	Enhancers	HUVEC	blood vessel
42	chr11:17177000-17189200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr11:17178200-17188200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr11:17178400-17188600	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr11:17178600-17186000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr11:17178600-17189800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr11:17178800-17185000	Weak transcription	K562	blood
48	chr11:17178800-17195000	Weak transcription	Brain Substantia Nigra	brain
49	chr11:17179600-17190000	Weak transcription	Fetal Kidney	kidney
50	chr11:17180000-17185400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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