Variant report

Variant	rs12436871
Chromosome Location	chr14:65821226-65821227
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:65801912..65803776-chr14:65819342..65822288,2	MCF-7	breast:
2	chr14:65751559..65753214-chr14:65820526..65823180,2	MCF-7	breast:
3	chr14:65821204..65823382-chr14:65830299..65832860,2	MCF-7	breast:
4	chr14:65692463..65695041-chr14:65818683..65822827,3	MCF-7	breast:
5	chr14:65813667..65817419-chr14:65818159..65821659,6	MCF-7	breast:
6	chr14:65820651..65828097-chr14:65876794..65881062,12	MCF-7	breast:
7	chr14:65820274..65829265-chr14:65876318..65881127,26	MCF-7	breast:
8	chr14:65695112..65697010-chr14:65821133..65822947,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000033170	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10483777	0.85[JPT][hapmap]
rs12431562	0.85[JPT][hapmap]
rs12432426	0.85[JPT][hapmap]
rs12433688	0.85[JPT][hapmap]
rs12437132	0.85[JPT][hapmap]
rs17102708	0.85[JPT][hapmap]
rs2297962	0.85[ASN][1000 genomes]
rs56921348	1.00[ASN][1000 genomes]
rs57309452	1.00[ASN][1000 genomes]
rs57571874	0.81[ASN][1000 genomes]
rs58794139	0.85[ASN][1000 genomes]
rs59170311	0.85[ASN][1000 genomes]
rs60824754	0.98[ASN][1000 genomes]
rs7141590	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73282204	0.80[ASN][1000 genomes]
rs73282206	0.80[ASN][1000 genomes]
rs73282208	0.80[ASN][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	nsv832818	chr14:65706859-65882320	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1036403	chr14:65724229-66208114	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
3	nsv1043943	chr14:65782466-66698411	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
4	nsv542120	chr14:65782466-66698411	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
5	nsv1039168	chr14:65811750-66308343	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65812000-65822800	Weak transcription	Gastric	stomach
2	chr14:65813800-65823600	Weak transcription	Thymus	Thymus
3	chr14:65814000-65821400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr14:65814000-65823400	Weak transcription	Small Intestine	intestine
5	chr14:65814000-65824800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr14:65814200-65822200	Weak transcription	Primary T cells from cord blood	blood
7	chr14:65814800-65823200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr14:65815400-65824000	Weak transcription	Brain Angular Gyrus	brain
9	chr14:65816000-65822800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr14:65816800-65828000	Enhancers	Primary B cells from peripheral blood	blood
11	chr14:65818000-65823400	Enhancers	GM12878-XiMat	blood
12	chr14:65819600-65823200	Enhancers	Hela-S3	cervix
13	chr14:65819600-65823400	Enhancers	HMEC	breast
14	chr14:65819600-65823400	Enhancers	NHEK	skin
15	chr14:65819600-65823600	Enhancers	Stomach Mucosa	stomach
16	chr14:65819600-65824400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr14:65819600-65824800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr14:65819800-65821400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr14:65819800-65824400	Enhancers	Placenta	Placenta
20	chr14:65819800-65824600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr14:65819800-65824800	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr14:65820000-65822400	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr14:65820000-65823600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr14:65820200-65821400	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr14:65820200-65822400	Weak transcription	NHDF-Ad	bronchial
26	chr14:65820200-65823000	Weak transcription	HUVEC	blood vessel
27	chr14:65820200-65823200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr14:65820200-65823200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr14:65820400-65822800	Weak transcription	HSMM	muscle
30	chr14:65820400-65823000	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr14:65820400-65823000	Weak transcription	Osteobl	bone
32	chr14:65820400-65823200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr14:65820400-65823400	Weak transcription	A549	lung
34	chr14:65820600-65822000	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr14:65820600-65822600	Enhancers	Fetal Intestine Large	intestine
36	chr14:65820800-65822200	Enhancers	Duodenum Mucosa	Duodenum
37	chr14:65821000-65821600	Enhancers	Esophagus	oesophagus
38	chr14:65821000-65821600	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr14:65821000-65821800	Enhancers	Brain Substantia Nigra	brain
40	chr14:65821000-65822800	Enhancers	Fetal Intestine Small	intestine
41	chr14:65821200-65821800	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr14:65821200-65821800	Enhancers	Brain Hippocampus Middle	brain
43	chr14:65821200-65821800	Enhancers	Left Ventricle	heart
44	chr14:65821200-65821800	Enhancers	Psoas Muscle	Psoas
45	chr14:65821200-65822000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr14:65821200-65822000	Enhancers	Pancreas	Pancrea
47	chr14:65821200-65822200	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr14:65821200-65822800	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr14:65821200-65823400	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr14:65821200-65823600	Weak transcription	Primary B cells from cord blood	blood

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