Variant report

Variant	rs11625500
Chromosome Location	chr14:65181846-65181847
allele	C/G
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	MAX	chr14:65181730-65182690	H1-hESC	embryonic stem cell:	n/a	chr14:65182654-65182664
2	E2F6	chr14:65181602-65182584	H1-hESC	embryonic stem cell:	n/a	chr14:65181874-65181885
3	MAX	chr14:65181844-65182964	H1-hESC	embryonic stem cell:	n/a	chr14:65182654-65182664
4	E2F6	chr14:65181774-65182471	H1-hESC	embryonic stem cell:	n/a	chr14:65181874-65181885
5	MAX	chr14:65181790-65182902	H1-hESC	embryonic stem cell:	n/a	chr14:65182654-65182664

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:65168529..65178400-chr14:65179583..65195815,52	MCF-7	breast:

Variant related genes	Relation type
PLEKHG3	TF binding region
ENSG00000126822	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10138034	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11621159	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11621379	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11622754	1.00[CEU][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11628301	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12883289	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12884903	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12892852	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12895353	0.82[CEU][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1553163	1.00[CEU][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs170683	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs170685	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17767074	0.83[AMR][1000 genomes]
rs229622	0.82[CEU][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229645	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs229648	1.00[ASN][1000 genomes]
rs229649	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229653	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229656	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34340219	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7140781	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71420472	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs732311	0.82[CEU][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9943995	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049097	chr14:65027753-65202018	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv1818582	chr14:65172898-65256685	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1035833	chr14:65176371-65246181	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65176000-65186400	Weak transcription	Osteobl	bone
2	chr14:65176200-65182000	Weak transcription	Colonic Mucosa	Colon
3	chr14:65176400-65182000	Weak transcription	Stomach Mucosa	stomach
4	chr14:65176800-65182000	Weak transcription	Gastric	stomach
5	chr14:65177000-65189200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr14:65177200-65183400	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr14:65178000-65182000	Weak transcription	Ovary	ovary
8	chr14:65178000-65182000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr14:65178200-65182000	Weak transcription	Fetal Stomach	stomach
10	chr14:65178200-65182000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr14:65178200-65182000	Weak transcription	Stomach Smooth Muscle	stomach
12	chr14:65180400-65182000	Weak transcription	Fetal Kidney	kidney
13	chr14:65180800-65182200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr14:65180800-65182200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr14:65180800-65182200	Enhancers	Brain Cingulate Gyrus	brain
16	chr14:65180800-65182200	Genic enhancers	HMEC	breast
17	chr14:65180800-65182400	Enhancers	Brain Angular Gyrus	brain
18	chr14:65180800-65185400	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr14:65181000-65182000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr14:65181000-65182000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
21	chr14:65181000-65182000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr14:65181000-65182000	Enhancers	Brain Substantia Nigra	brain
23	chr14:65181000-65182200	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr14:65181000-65182200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr14:65181000-65182200	Genic enhancers	NHEK	skin
26	chr14:65181000-65189400	Enhancers	Primary T cells fromperipheralblood	blood
27	chr14:65181000-65197600	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr14:65181200-65182000	Enhancers	H1 Cell Line	embryonic stem cell
29	chr14:65181200-65182000	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr14:65181200-65182200	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr14:65181200-65182400	Enhancers	H9 Cell Line	embryonic stem cell
32	chr14:65181200-65182600	Enhancers	Placenta	Placenta
33	chr14:65181200-65183800	Weak transcription	Hela-S3	cervix
34	chr14:65181200-65184400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr14:65181200-65185800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr14:65181200-65189600	Enhancers	Liver	Liver
37	chr14:65181200-65197000	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr14:65181400-65182000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr14:65181400-65182000	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr14:65181400-65182000	Strong transcription	Fetal Intestine Small	intestine
41	chr14:65181400-65182200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr14:65181400-65182200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr14:65181400-65182200	Enhancers	Pancreas	Pancrea
44	chr14:65181400-65182400	Enhancers	Aorta	Aorta
45	chr14:65181400-65182400	Enhancers	Fetal Intestine Large	intestine
46	chr14:65181400-65182400	Enhancers	Left Ventricle	heart
47	chr14:65181400-65182400	Enhancers	Right Atrium	heart
48	chr14:65181400-65182600	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr14:65181400-65182600	Enhancers	Right Ventricle	heart
50	chr14:65181400-65183000	Enhancers	Primary T killer memory cells from peripheral blood	blood

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