Variant report

Variant	rs7314342
Chromosome Location	chr12:31727893-31727894
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	chr12:31727734..31729670-chr12:31731593..31733122,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs7132137	1.00[AMR][1000 genomes]
rs7300990	1.00[AMR][1000 genomes]
rs7302212	1.00[EUR][1000 genomes]
rs7966566	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041877	chr12:31009451-31809254	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv541440	chr12:31009451-31809254	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	esv1836923	chr12:31539122-31761172	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv2760267	chr12:31626732-31909908	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv898965	chr12:31631819-31771689	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv832365	chr12:31642811-31808532	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	esv1842653	chr12:31670378-31744033	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv52934	chr12:31721932-31731107	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31714200-31728600	Weak transcription	Psoas Muscle	Psoas
2	chr12:31719000-31731200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr12:31720000-31731400	Weak transcription	Brain Germinal Matrix	brain
4	chr12:31721600-31742400	Weak transcription	Aorta	Aorta
5	chr12:31722200-31731000	Weak transcription	HSMM	muscle
6	chr12:31722800-31730800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:31722800-31735200	Weak transcription	Spleen	Spleen
8	chr12:31723600-31728400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:31723800-31731400	Weak transcription	Colon Smooth Muscle	Colon
10	chr12:31724000-31728000	Weak transcription	Stomach Mucosa	stomach
11	chr12:31724000-31730800	Weak transcription	HSMMtube	muscle
12	chr12:31724200-31728600	Weak transcription	Fetal Intestine Small	intestine
13	chr12:31724200-31730800	Weak transcription	Pancreas	Pancrea
14	chr12:31724200-31730800	Weak transcription	Right Atrium	heart
15	chr12:31724200-31731000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr12:31724200-31731200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:31724200-31731400	Weak transcription	Fetal Kidney	kidney
18	chr12:31724200-31731600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr12:31724400-31728000	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr12:31725000-31728600	Enhancers	Fetal Heart	heart
21	chr12:31725200-31728200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:31725600-31728400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr12:31726200-31728800	Enhancers	A549	lung
24	chr12:31726200-31731200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr12:31726400-31742000	Weak transcription	Fetal Intestine Large	intestine
26	chr12:31726600-31728000	Enhancers	Right Ventricle	heart
27	chr12:31726600-31732400	Enhancers	Primary B cells from peripheral blood	blood
28	chr12:31726600-31738000	Weak transcription	Liver	Liver
29	chr12:31726800-31728000	Enhancers	H1 Cell Line	embryonic stem cell
30	chr12:31727000-31728200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr12:31727000-31731200	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr12:31727000-31731600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr12:31727000-31733400	Weak transcription	Ovary	ovary
34	chr12:31727000-31738000	Weak transcription	Small Intestine	intestine
35	chr12:31727200-31728600	Weak transcription	Left Ventricle	heart
36	chr12:31727400-31728000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr12:31727400-31728000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr12:31727400-31728000	Enhancers	Brain Anterior Caudate	brain
39	chr12:31727400-31728400	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr12:31727400-31728800	Enhancers	HepG2	liver
41	chr12:31727400-31729000	Enhancers	Primary hematopoietic stem cells	blood
42	chr12:31727400-31729200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr12:31727600-31728000	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr12:31727600-31728000	Enhancers	Adipose Nuclei	Adipose
45	chr12:31727600-31728000	Enhancers	Fetal Muscle Leg	muscle
46	chr12:31727600-31728400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr12:31727600-31728400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr12:31727600-31728400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr12:31727600-31728400	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr12:31727600-31728400	Enhancers	Brain Substantia Nigra	brain

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