Variant report

Variant	rs571324270
Chromosome Location	chr12:49046844-49046845
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:49046239..49048123-chr12:49073904..49075607,2	MCF-7	breast:
2	chr12:49046686..49049905-chr12:49054030..49058402,3	K562	blood:

Variant related genes	Relation type
ENSG00000139620	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3332169	chr12:49005807-49150691	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
2	nsv1043220	chr12:49045458-49065987	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49030000-49047200	Weak transcription	Esophagus	oesophagus
2	chr12:49035400-49047000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr12:49035400-49047000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr12:49036800-49072000	Strong transcription	Liver	Liver
5	chr12:49037400-49047400	Weak transcription	Fetal Brain Male	brain
6	chr12:49037800-49056600	Strong transcription	Fetal Muscle Trunk	muscle
7	chr12:49037800-49072400	Strong transcription	Placenta	Placenta
8	chr12:49038200-49070800	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr12:49038400-49060600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr12:49038800-49071800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:49039000-49072200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr12:49039200-49047600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr12:49039400-49068800	Weak transcription	Right Atrium	heart
14	chr12:49039400-49071800	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr12:49039800-49071000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr12:49039800-49071000	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr12:49040000-49057000	Strong transcription	Dnd41	blood
18	chr12:49040000-49059400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:49040000-49072600	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr12:49040200-49047800	Weak transcription	Pancreas	Pancrea
21	chr12:49040400-49047400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr12:49040400-49051800	Strong transcription	HSMM	muscle
23	chr12:49040400-49060600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr12:49040400-49072800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr12:49041000-49047400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr12:49041000-49071800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr12:49041200-49061200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr12:49041200-49068200	Strong transcription	Stomach Smooth Muscle	stomach
29	chr12:49041400-49047200	Weak transcription	Small Intestine	intestine
30	chr12:49041600-49065200	Weak transcription	Stomach Mucosa	stomach
31	chr12:49041800-49054400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr12:49041800-49065200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr12:49041800-49070800	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr12:49041800-49071000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr12:49041800-49072400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr12:49041800-49073800	Strong transcription	Fetal Intestine Large	intestine
37	chr12:49042400-49047800	Weak transcription	Aorta	Aorta
38	chr12:49042400-49056800	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr12:49042400-49065200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr12:49042400-49072800	Strong transcription	Fetal Muscle Leg	muscle
41	chr12:49042600-49064200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr12:49043000-49049400	Strong transcription	Primary hematopoietic stem cells	blood
43	chr12:49043200-49047200	Weak transcription	Fetal Heart	heart
44	chr12:49043200-49047400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr12:49043400-49049200	Strong transcription	Brain Cingulate Gyrus	brain
46	chr12:49043600-49054600	Strong transcription	Skeletal Muscle Female	skeletal muscle
47	chr12:49043800-49047600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr12:49043800-49057600	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr12:49043800-49068800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr12:49044000-49055000	Strong transcription	Sigmoid Colon	Sigmoid Colon

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