Variant report

Variant	rs12589836
Chromosome Location	chr14:67950615-67950616
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:67939344..67942070-chr14:67946929..67950674,3	MCF-7	breast:
2	chr14:67950274..67952126-chr14:67954353..67957172,2	MCF-7	breast:
3	chr14:67944168..67950756-chr14:67978926..67983400,9	MCF-7	breast:
4	chr14:67946150..67948174-chr14:67950017..67952096,2	MCF-7	breast:
5	chr14:67903388..67905312-chr14:67950420..67951946,2	MCF-7	breast:
6	chr14:67945430..67947453-chr14:67950590..67952638,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198133	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12589622	1.00[LWK][hapmap];1.00[AFR][1000 genomes]
rs12590588	1.00[AFR][1000 genomes]
rs17184762	1.00[AFR][1000 genomes]
rs17191694	1.00[LWK][hapmap]
rs17249049	1.00[LWK][hapmap];1.00[MEX][hapmap];0.80[AMR][1000 genomes]
rs17249111	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17249153	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045518	chr14:67529049-67959582	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv456331	chr14:67732861-68103780	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv564961	chr14:67732861-68103780	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv902066	chr14:67873128-68103780	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv1048046	chr14:67932876-67958467	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv902067	chr14:67935206-67953848	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv1035855	chr14:67935684-67964355	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv1320	chr14:67938724-67984157	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67933000-67954400	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr14:67935000-67977200	Weak transcription	Brain Angular Gyrus	brain
3	chr14:67935200-67952200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr14:67936000-67952000	Weak transcription	Brain Substantia Nigra	brain
5	chr14:67937400-67951600	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr14:67937400-67954800	Weak transcription	Gastric	stomach
7	chr14:67937400-67955000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr14:67937600-67952000	Strong transcription	Primary T cells from cord blood	blood
9	chr14:67937600-67955000	Weak transcription	Brain Anterior Caudate	brain
10	chr14:67938200-67953400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr14:67938400-67951800	Weak transcription	Fetal Brain Female	brain
12	chr14:67939400-67952400	Weak transcription	Brain Hippocampus Middle	brain
13	chr14:67939800-67953800	Weak transcription	Primary B cells from cord blood	blood
14	chr14:67942000-67955000	Weak transcription	Esophagus	oesophagus
15	chr14:67945400-67955000	Weak transcription	Small Intestine	intestine
16	chr14:67945600-67950800	Weak transcription	NHEK	skin
17	chr14:67945600-67951800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr14:67945600-67954600	Weak transcription	Colonic Mucosa	Colon
19	chr14:67945600-67954800	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr14:67947000-67951800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr14:67947000-67954000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
22	chr14:67947000-67958200	Weak transcription	Pancreas	Pancrea
23	chr14:67947200-67953800	Genic enhancers	Primary T cells fromperipheralblood	blood
24	chr14:67947200-67954800	Strong transcription	Fetal Intestine Small	intestine
25	chr14:67947200-67955000	Weak transcription	Ovary	ovary
26	chr14:67947200-67958400	Weak transcription	Brain Germinal Matrix	brain
27	chr14:67947800-67952600	Weak transcription	Stomach Smooth Muscle	stomach
28	chr14:67949000-67951200	Enhancers	GM12878-XiMat	blood
29	chr14:67949200-67950800	Enhancers	Placenta	Placenta
30	chr14:67949200-67952200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr14:67949400-67951000	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr14:67949400-67951200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr14:67949600-67951800	Weak transcription	Primary hematopoietic stem cells	blood
34	chr14:67949800-67950800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr14:67949800-67952200	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr14:67949800-67958200	Weak transcription	Fetal Brain Male	brain
37	chr14:67950000-67950800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr14:67950000-67950800	Enhancers	Fetal Muscle Trunk	muscle
39	chr14:67950000-67950800	Enhancers	HepG2	liver
40	chr14:67950000-67951400	Enhancers	Fetal Muscle Leg	muscle
41	chr14:67950200-67950800	Enhancers	Left Ventricle	heart
42	chr14:67950200-67950800	Enhancers	Psoas Muscle	Psoas
43	chr14:67950200-67950800	Genic enhancers	Sigmoid Colon	Sigmoid Colon
44	chr14:67950200-67951000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr14:67950200-67951000	Enhancers	Fetal Heart	heart
46	chr14:67950200-67951200	Enhancers	Primary B cells from peripheral blood	blood
47	chr14:67950200-67951200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr14:67950200-67952200	Strong transcription	Thymus	Thymus
49	chr14:67950200-67952600	Genic enhancers	Duodenum Mucosa	Duodenum
50	chr14:67950400-67950800	Enhancers	Fetal Thymus	thymus

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