Variant report

Variant	rs12434943
Chromosome Location	chr14:31901699-31901700
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:31900629..31902248-chr14:31924546..31926804,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000129480	Chromatin interaction
ENSG00000203546	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10136673	0.87[AFR][1000 genomes]
rs10140697	0.83[AFR][1000 genomes]
rs10872852	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1111724	0.91[AFR][1000 genomes]
rs11621557	0.87[AFR][1000 genomes]
rs11626263	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11844137	0.85[AFR][1000 genomes]
rs12587817	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12878225	1.00[ASN][1000 genomes]
rs1952105	0.83[AFR][1000 genomes]
rs1958026	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2378866	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4981094	0.85[AFR][1000 genomes]
rs4981099	0.85[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4981846	1.00[ASN][1000 genomes]
rs5018104	1.00[ASN][1000 genomes]
rs58281147	0.83[ASN][1000 genomes]
rs6571421	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6571424	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7146522	1.00[ASN][1000 genomes]
rs7151305	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7156793	0.87[AFR][1000 genomes]
rs8005617	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8010198	1.00[ASN][1000 genomes]
rs8017643	1.00[JPT][hapmap]

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	esv2830427	chr14:31639110-32000034	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1050597	chr14:31711248-31904761	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv901589	chr14:31768231-31944723	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1042776	chr14:31844026-32003929	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv542019	chr14:31844026-32003929	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv931935	chr14:31871658-32117666	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	nsv1050774	chr14:31879687-32102906	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
8	nsv934110	chr14:31887749-32109529	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
9	nsv934206	chr14:31887749-32257097	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31890200-31902200	Weak transcription	Aorta	Aorta
2	chr14:31890200-31904200	Weak transcription	Right Atrium	heart
3	chr14:31890400-31907400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr14:31890400-31910400	Weak transcription	Placenta	Placenta
5	chr14:31890400-31910400	Weak transcription	Ovary	ovary
6	chr14:31890400-31917400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr14:31890400-31921200	Weak transcription	Psoas Muscle	Psoas
8	chr14:31890400-31925800	Weak transcription	Right Ventricle	heart
9	chr14:31890600-31904400	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr14:31890600-31910600	Weak transcription	Fetal Heart	heart
11	chr14:31890600-31919000	Weak transcription	Brain Anterior Caudate	brain
12	chr14:31890600-31919200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr14:31890600-31920600	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr14:31890600-31922400	Weak transcription	Brain Angular Gyrus	brain
15	chr14:31890800-31920800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr14:31890800-31925200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr14:31896000-31907400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr14:31896200-31919600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr14:31896400-31904200	Weak transcription	Adipose Nuclei	Adipose
20	chr14:31899600-31901800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
21	chr14:31900400-31902400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr14:31900400-31920200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr14:31900600-31901800	ZNF genes & repeats	Fetal Muscle Leg	muscle
24	chr14:31900600-31904000	Weak transcription	Colon Smooth Muscle	Colon
25	chr14:31900800-31901800	ZNF genes & repeats	Primary B cells from cord blood	blood
26	chr14:31900800-31901800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr14:31900800-31902000	ZNF genes & repeats	Fetal Brain Female	brain
28	chr14:31901000-31901800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
29	chr14:31901000-31901800	ZNF genes & repeats	Fetal Brain Male	brain
30	chr14:31901200-31901800	ZNF genes & repeats	Dnd41	blood
31	chr14:31901200-31910600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr14:31901200-31921200	Weak transcription	Brain Substantia Nigra	brain
33	chr14:31901200-31922400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr14:31901400-31913400	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr14:31901400-31917000	Weak transcription	Stomach Smooth Muscle	stomach
36	chr14:31901600-31901800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr14:31901600-31901800	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr14:31901600-31903600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr14:31901600-31903800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr14:31901600-31904400	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr14:31901600-31904400	Weak transcription	Fetal Lung	lung
42	chr14:31901600-31916200	Weak transcription	Fetal Muscle Trunk	muscle
43	chr14:31901600-31917000	Weak transcription	Brain Hippocampus Middle	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links