Variant report

Variant	rs694678
Chromosome Location	chr11:62584173-62584174
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr11:62583911-62584341	HL-60	blood:	n/a	n/a

Variant related genes	Relation type
RNU6-118P	TF binding region

Extended variants
information (count: 58 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11822922	1.00[EUR][1000 genomes]
rs12273912	1.00[EUR][1000 genomes]
rs1787724	1.00[EUR][1000 genomes]
rs2510538	1.00[EUR][1000 genomes]
rs2584915	1.00[EUR][1000 genomes]
rs2584917	1.00[EUR][1000 genomes]
rs2730030	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2730033	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2956139	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2958240	1.00[EUR][1000 genomes]
rs481272	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs482331	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs486451	1.00[EUR][1000 genomes]
rs489275	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4963309	1.00[EUR][1000 genomes]
rs506132	1.00[EUR][1000 genomes]
rs507101	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs514401	1.00[EUR][1000 genomes]
rs518780	1.00[EUR][1000 genomes]
rs519473	1.00[EUR][1000 genomes]
rs523328	1.00[EUR][1000 genomes]
rs544573	1.00[EUR][1000 genomes]
rs560006	1.00[AMR][1000 genomes]
rs560603	1.00[AMR][1000 genomes]
rs560618	1.00[EUR][1000 genomes]
rs561385	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs561520	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56226867	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56262657	1.00[EUR][1000 genomes]
rs564587	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs572513	1.00[EUR][1000 genomes]
rs573146	1.00[EUR][1000 genomes]
rs57338459	1.00[EUR][1000 genomes]
rs575134	1.00[EUR][1000 genomes]
rs577071	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57858466	1.00[EUR][1000 genomes]
rs592337	1.00[EUR][1000 genomes]
rs595108	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60568977	1.00[EUR][1000 genomes]
rs60668695	1.00[EUR][1000 genomes]
rs619109	1.00[EUR][1000 genomes]
rs646194	1.00[EUR][1000 genomes]
rs692773	1.00[EUR][1000 genomes]
rs73487819	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73487834	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73487878	1.00[EUR][1000 genomes]
rs73487879	1.00[EUR][1000 genomes]
rs73487880	1.00[EUR][1000 genomes]
rs73490026	1.00[EUR][1000 genomes]
rs73502133	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915636	chr11:62016992-62713565	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1441 gene(s)	inside rSNPs	diseases
2	nsv532283	chr11:62201358-62863475	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS 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	1433 gene(s)	inside rSNPs	diseases
3	nsv532284	chr11:62220043-62630253	Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1401 gene(s)	inside rSNPs	diseases
4	nsv497903	chr11:62330308-62608042	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	489 gene(s)	inside rSNPs	diseases
5	nsv897623	chr11:62438819-62603916	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	215 gene(s)	inside rSNPs	diseases
6	nsv508636	chr11:62547114-62644458	Transcr. at gene 5' and 3' Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1195 gene(s)	inside rSNPs	diseases
7	nsv1051308	chr11:62564713-62673136	Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1199 gene(s)	inside rSNPs	diseases
8	nsv541058	chr11:62564713-62673136	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1199 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62573400-62587000	Weak transcription	Gastric	stomach
2	chr11:62573400-62587200	Weak transcription	Ovary	ovary
3	chr11:62573400-62591400	Weak transcription	Stomach Mucosa	stomach
4	chr11:62573600-62587200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:62573800-62587000	Weak transcription	Brain Anterior Caudate	brain
6	chr11:62573800-62588600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr11:62573800-62589000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr11:62573800-62589800	Weak transcription	A549	lung
9	chr11:62574000-62584600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr11:62574000-62585400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr11:62574000-62586800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr11:62574000-62586800	Weak transcription	Brain Angular Gyrus	brain
13	chr11:62574000-62587000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr11:62574000-62587000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr11:62574000-62588400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr11:62574000-62589200	Weak transcription	Aorta	Aorta
17	chr11:62574000-62590000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr11:62574000-62590400	Weak transcription	Fetal Kidney	kidney
19	chr11:62574000-62591000	Weak transcription	Fetal Brain Male	brain
20	chr11:62574000-62591400	Weak transcription	Small Intestine	intestine
21	chr11:62574200-62585200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr11:62574200-62586000	Weak transcription	Brain Hippocampus Middle	brain
23	chr11:62574200-62586800	Weak transcription	Brain Substantia Nigra	brain
24	chr11:62574200-62587200	Weak transcription	Right Ventricle	heart
25	chr11:62574200-62587800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr11:62574200-62588800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr11:62574200-62588800	Weak transcription	Colonic Mucosa	Colon
28	chr11:62574200-62590000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr11:62574400-62584600	Weak transcription	Pancreas	Pancrea
30	chr11:62574400-62587400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr11:62574400-62588600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr11:62574600-62585600	Weak transcription	Left Ventricle	heart
33	chr11:62574600-62587600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr11:62574600-62589000	Weak transcription	Esophagus	oesophagus
35	chr11:62574600-62589600	Weak transcription	GM12878-XiMat	blood
36	chr11:62574800-62584600	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr11:62574800-62589000	Weak transcription	Psoas Muscle	Psoas
38	chr11:62574800-62594600	Weak transcription	Fetal Heart	heart
39	chr11:62575000-62584800	Weak transcription	Primary B cells from cord blood	blood
40	chr11:62575000-62589800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr11:62575000-62589800	Weak transcription	NHDF-Ad	bronchial
42	chr11:62575000-62590000	Weak transcription	NHEK	skin
43	chr11:62575200-62589800	Weak transcription	Primary hematopoietic stem cells	blood
44	chr11:62575200-62589800	Weak transcription	Fetal Lung	lung
45	chr11:62575400-62584600	Weak transcription	Thymus	Thymus
46	chr11:62579400-62589800	Weak transcription	K562	blood
47	chr11:62579600-62587200	Weak transcription	HepG2	liver
48	chr11:62580200-62596400	Strong transcription	Fetal Muscle Leg	muscle
49	chr11:62580600-62585200	Strong transcription	Primary T cells from cord blood	blood
50	chr11:62580600-62594600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links