Variant report

Variant	rs558509578
Chromosome Location	chr12:56957120-56957121
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56917000-56958000	Weak transcription	Ovary	ovary
2	chr12:56917200-56959200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr12:56922400-56959200	Weak transcription	Fetal Kidney	kidney
4	chr12:56923800-56959400	Weak transcription	Aorta	Aorta
5	chr12:56924800-56959200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr12:56925000-56959200	Weak transcription	HSMMtube	muscle
7	chr12:56931400-56959400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr12:56931600-56965000	Weak transcription	Hela-S3	cervix
9	chr12:56932200-56959200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr12:56933200-56959000	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr12:56933200-56959200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr12:56933400-56959200	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr12:56935600-56959200	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr12:56937200-56959200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr12:56939600-56957800	Weak transcription	HMEC	breast
16	chr12:56946600-56959200	Weak transcription	Spleen	Spleen
17	chr12:56947000-56958000	Weak transcription	Lung	lung
18	chr12:56947200-56959200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr12:56948200-56959200	Weak transcription	Colonic Mucosa	Colon
20	chr12:56948600-56981200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr12:56950000-56959600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr12:56950800-56975000	Weak transcription	Esophagus	oesophagus
23	chr12:56951000-56959600	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr12:56951200-56959200	Weak transcription	Fetal Thymus	thymus
25	chr12:56951400-56959200	Weak transcription	Duodenum Mucosa	Duodenum
26	chr12:56951400-56963600	Weak transcription	Brain Anterior Caudate	brain
27	chr12:56952600-56966200	Weak transcription	Fetal Brain Female	brain
28	chr12:56952600-56974800	Weak transcription	Pancreas	Pancrea
29	chr12:56953200-56959200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr12:56953200-56981200	Weak transcription	Brain Substantia Nigra	brain
31	chr12:56954400-56974800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr12:56954600-56958800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr12:56954600-56959000	Weak transcription	Rectal Smooth Muscle	rectum
34	chr12:56954600-56959200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr12:56954600-56993400	Weak transcription	Fetal Brain Male	brain
36	chr12:56954800-56957400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr12:56955000-56958600	Strong transcription	Fetal Intestine Small	intestine
38	chr12:56955000-56959000	Weak transcription	Primary hematopoietic stem cells	blood
39	chr12:56955000-56959200	Weak transcription	Fetal Heart	heart
40	chr12:56955000-56959400	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr12:56955000-56959400	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr12:56955600-56958800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr12:56955600-56958800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr12:56955800-56958000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr12:56955800-56958000	Strong transcription	HUVEC	blood vessel
46	chr12:56955800-56958200	Strong transcription	Fetal Stomach	stomach
47	chr12:56955800-56958400	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr12:56955800-56958600	Strong transcription	Fetal Muscle Leg	muscle
49	chr12:56955800-56959000	Strong transcription	A549	lung
50	chr12:56955800-56959000	Strong transcription	Osteobl	bone

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links