Variant report

Variant	rs4759252
Chromosome Location	chr12:56961165-56961166
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	chr12:56959480..56961532-chr12:56961606..56964152,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs4547138	0.80[AFR][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	nsv1043622	chr12:56571476-56974448	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	nsv541500	chr12:56571476-56974448	Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
3	nsv899106	chr12:56905558-57004668	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	esv3375110	chr12:56956280-56965593	Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56931600-56965000	Weak transcription	Hela-S3	cervix
2	chr12:56948600-56981200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr12:56950800-56975000	Weak transcription	Esophagus	oesophagus
4	chr12:56951400-56963600	Weak transcription	Brain Anterior Caudate	brain
5	chr12:56952600-56966200	Weak transcription	Fetal Brain Female	brain
6	chr12:56952600-56974800	Weak transcription	Pancreas	Pancrea
7	chr12:56953200-56981200	Weak transcription	Brain Substantia Nigra	brain
8	chr12:56954400-56974800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr12:56954600-56993400	Weak transcription	Fetal Brain Male	brain
10	chr12:56956000-56968800	Strong transcription	NHEK	skin
11	chr12:56956200-56970400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr12:56956600-56975000	Weak transcription	Gastric	stomach
13	chr12:56956800-56961200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr12:56957400-56962800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:56958000-56963000	Weak transcription	Dnd41	blood
16	chr12:56958400-56967400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:56958600-56961200	Weak transcription	Lung	lung
18	chr12:56959200-56963000	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr12:56959200-56964200	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr12:56959400-56964800	Weak transcription	Brain Hippocampus Middle	brain
21	chr12:56959400-56970000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr12:56959600-56961200	Enhancers	Fetal Stomach	stomach
23	chr12:56959600-56961600	Weak transcription	Osteobl	bone
24	chr12:56959600-56963000	Weak transcription	NH-A	brain
25	chr12:56959600-56963800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr12:56959600-56975000	Weak transcription	Right Ventricle	heart
27	chr12:56959800-56961600	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr12:56959800-56962000	Enhancers	Fetal Intestine Large	intestine
29	chr12:56959800-56962400	Weak transcription	Left Ventricle	heart
30	chr12:56959800-56963000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr12:56959800-56963400	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr12:56959800-56963600	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr12:56959800-56963600	Enhancers	Fetal Intestine Small	intestine
34	chr12:56959800-56970400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr12:56959800-56971800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr12:56959800-56974800	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr12:56959800-56975000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr12:56959800-56981400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr12:56960000-56961200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr12:56960000-56961200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr12:56960000-56961200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr12:56960000-56961200	Weak transcription	HMEC	breast
43	chr12:56960000-56961400	Enhancers	Fetal Muscle Trunk	muscle
44	chr12:56960000-56961400	Weak transcription	Ovary	ovary
45	chr12:56960000-56961800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr12:56960000-56962200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr12:56960000-56962400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr12:56960000-56962800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr12:56960000-56962800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr12:56960000-56962800	Weak transcription	Placenta Amnion	Placenta Amnion

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links