Variant report

Variant	rs12432304
Chromosome Location	chr14:24636433-24636434
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:24636050-24637178	GM12878	blood:	n/a	n/a
2	POLR2A	chr14:24635738-24637362	GM12892	blood:	n/a	n/a
3	POLR2A	chr14:24628953-24638117	GM12892	blood:	n/a	n/a
4	POLR2A	chr14:24635698-24637794	GM12891	blood:	n/a	n/a
5	POLR2A	chr14:24635717-24637487	GM12891	blood:	n/a	n/a
6	POLR2A	chr14:24629025-24642975	GM12878	blood:	n/a	n/a
7	POLR2A	chr14:24628755-24643416	GM12878	blood:	n/a	n/a
8	POLR2A	chr14:24628891-24643060	GM12892	blood:	n/a	n/a
9	POLR2A	chr14:24635678-24642994	GM12891	blood:	n/a	n/a
10	POLR2A	chr14:24628761-24637814	GM12892	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr14:24575682..24577445-chr14:24635634..24638482,2	K562	blood:
2	chr14:24629652..24632387-chr14:24633563..24637546,5	K562	blood:
3	chr14:24631619..24637585-chr14:24644952..24647499,6	K562	blood:
4	chr14:24630385..24632878-chr14:24633609..24637546,6	K562	blood:
5	chr14:24631879..24637788-chr14:24639506..24644553,5	K562	blood:
6	chr14:24634478..24636921-chr14:24656618..24658137,2	K562	blood:
7	chr14:24627382..24636644-chr14:24680297..24686914,11	MCF-7	breast:
8	chr14:24634103..24636921-chr14:24656610..24658137,3	K562	blood:

No data

Variant related genes	Relation type
REC8	TF binding region
ENSG00000100918	Chromatin interaction
ENSG00000196497	Chromatin interaction
ENSG00000213928	Chromatin interaction
ENSG00000213920	Chromatin interaction
ENSG00000260669	Chromatin interaction
ENSG00000254692	Chromatin interaction
ENSG00000254505	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10467733	0.88[CEU][hapmap];0.96[EUR][1000 genomes]
rs2295977	1.00[CEU][hapmap];0.89[GIH][hapmap];0.87[JPT][hapmap];0.85[TSI][hapmap];0.93[EUR][1000 genomes]
rs2295978	1.00[CEU][hapmap];0.89[GIH][hapmap];0.87[JPT][hapmap];0.85[TSI][hapmap];0.93[EUR][1000 genomes]
rs28495052	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36113166	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4761	0.91[CHB][hapmap];0.84[CHD][hapmap];0.82[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.87[ASN][1000 genomes]
rs59110805	0.97[EUR][1000 genomes]
rs7146310	0.94[CEU][hapmap];0.82[GIH][hapmap];0.87[JPT][hapmap];0.88[TSI][hapmap];0.94[EUR][1000 genomes]
rs7154911	1.00[CEU][hapmap];0.81[CHB][hapmap];0.87[JPT][hapmap];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3405661	chr14:24189883-24670942	Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	esv1827678	chr14:24520544-24663325	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
3	nsv869985	chr14:24578013-24652669	Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv901498	chr14:24591892-24662177	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24631000-24640600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:24631200-24640600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr14:24631600-24637200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr14:24631600-24637200	Strong transcription	A549	lung
5	chr14:24631600-24640400	Weak transcription	Fetal Brain Male	brain
6	chr14:24631600-24653800	Weak transcription	K562	blood
7	chr14:24632000-24636600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr14:24632000-24637200	Strong transcription	Fetal Lung	lung
9	chr14:24632000-24637200	Strong transcription	HepG2	liver
10	chr14:24632000-24639200	Strong transcription	Osteobl	bone
11	chr14:24632200-24636600	Strong transcription	Muscle Satellite Cultured Cells	--
12	chr14:24632200-24637200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:24632200-24637200	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr14:24632200-24637200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr14:24632200-24637200	Strong transcription	Primary hematopoietic stem cells	blood
16	chr14:24632200-24637200	Strong transcription	Aorta	Aorta
17	chr14:24632200-24637200	Strong transcription	Placenta Amnion	Placenta Amnion
18	chr14:24632200-24637200	Strong transcription	Sigmoid Colon	Sigmoid Colon
19	chr14:24632200-24637400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr14:24632200-24640000	Strong transcription	Thymus	Thymus
21	chr14:24632400-24637000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr14:24632400-24637000	Strong transcription	HSMMtube	muscle
23	chr14:24632400-24637200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr14:24632400-24637200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr14:24632400-24637200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr14:24632400-24637200	Strong transcription	NHLF	lung
27	chr14:24632400-24639800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr14:24632400-24639800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr14:24632600-24636600	Strong transcription	Hela-S3	cervix
30	chr14:24632600-24637000	Strong transcription	Skeletal Muscle Male	skeletal muscle
31	chr14:24632600-24637200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr14:24632600-24637200	Strong transcription	Brain Cingulate Gyrus	brain
33	chr14:24632600-24637200	Strong transcription	Fetal Muscle Trunk	muscle
34	chr14:24632600-24637200	Genic enhancers	Monocytes-CD14+_RO01746	blood
35	chr14:24632600-24637200	Strong transcription	NHDF-Ad	bronchial
36	chr14:24632600-24640400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr14:24632800-24637000	Strong transcription	Esophagus	oesophagus
38	chr14:24632800-24637000	Strong transcription	Ovary	ovary
39	chr14:24632800-24637200	Strong transcription	Brain Anterior Caudate	brain
40	chr14:24632800-24637200	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr14:24632800-24637200	Strong transcription	Rectal Smooth Muscle	rectum
42	chr14:24632800-24637200	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr14:24632800-24637400	Strong transcription	Adipose Nuclei	Adipose
44	chr14:24632800-24637400	Strong transcription	Duodenum Mucosa	Duodenum
45	chr14:24632800-24637400	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr14:24632800-24638800	Strong transcription	Fetal Intestine Large	intestine
47	chr14:24632800-24639000	Strong transcription	Left Ventricle	heart
48	chr14:24632800-24639200	Strong transcription	Lung	lung
49	chr14:24632800-24639400	Strong transcription	Fetal Stomach	stomach
50	chr14:24632800-24639600	Strong transcription	Fetal Intestine Small	intestine

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