Variant report

Variant	rs12431249
Chromosome Location	chr13:50214959-50214960
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:50205655..50207787-chr13:50213059..50215226,2	MCF-7	breast:
2	chr13:50207967..50212000-chr13:50212488..50215726,4	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1325659	0.81[JPT][hapmap]
rs17073188	0.80[JPT][hapmap]
rs2407795	0.83[EUR][1000 genomes]
rs4942856	0.83[EUR][1000 genomes]
rs55702040	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55777819	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7336812	0.85[JPT][hapmap]
rs9316467	0.85[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047311	chr13:49895019-50224227	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv916093	chr13:50050919-50290245	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1054965	chr13:50102730-50251347	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv541771	chr13:50102730-50251347	Enhancers Active TSS Genic enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv900071	chr13:50107289-50286218	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv1043697	chr13:50129199-50249241	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	esv2752657	chr13:50144995-50244150	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50202800-50233600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr13:50205200-50215400	Weak transcription	Esophagus	oesophagus
3	chr13:50208800-50215000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
4	chr13:50210400-50219600	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr13:50210400-50219600	Weak transcription	Fetal Thymus	thymus
6	chr13:50210400-50219800	Weak transcription	Primary T cells from cord blood	blood
7	chr13:50210400-50224000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr13:50210600-50215600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr13:50210600-50215800	Weak transcription	NHDF-Ad	bronchial
10	chr13:50210600-50216000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr13:50210600-50219600	Weak transcription	Dnd41	blood
12	chr13:50210600-50229800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr13:50210600-50241000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr13:50210800-50215000	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr13:50210800-50215400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr13:50210800-50216000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr13:50210800-50216000	Weak transcription	Fetal Heart	heart
18	chr13:50210800-50216200	Weak transcription	Primary B cells from peripheral blood	blood
19	chr13:50210800-50216200	Weak transcription	Fetal Muscle Leg	muscle
20	chr13:50210800-50216200	Weak transcription	Left Ventricle	heart
21	chr13:50211000-50215000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr13:50211000-50216000	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr13:50211200-50215000	Weak transcription	Lung	lung
24	chr13:50211200-50215200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr13:50211200-50215400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr13:50211200-50215400	Weak transcription	K562	blood
27	chr13:50211200-50215600	Weak transcription	Spleen	Spleen
28	chr13:50211200-50216000	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr13:50212600-50215200	Weak transcription	Primary B cells from cord blood	blood
30	chr13:50212600-50217800	Weak transcription	HepG2	liver
31	chr13:50212800-50215200	Weak transcription	Hela-S3	cervix
32	chr13:50212800-50215400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr13:50213000-50215600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr13:50213000-50215600	Weak transcription	NHEK	skin
35	chr13:50213400-50216200	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr13:50214800-50215200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr13:50214800-50215800	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr13:50214800-50215800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr13:50214800-50216200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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