Variant report

Variant	rs573631545
Chromosome Location	chr12:49046044-49046045
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	chr12:49044206..49046725-chr12:49074611..49077605,2	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	chr12:49027600-49046600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:49030000-49047200	Weak transcription	Esophagus	oesophagus
3	chr12:49035200-49046800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:49035400-49046200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr12:49035400-49047000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:49035400-49047000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr12:49035800-49046800	Weak transcription	Gastric	stomach
8	chr12:49035800-49046800	Weak transcription	Ovary	ovary
9	chr12:49036800-49072000	Strong transcription	Liver	Liver
10	chr12:49037000-49046600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr12:49037000-49046800	Weak transcription	NHLF	lung
12	chr12:49037200-49046400	Weak transcription	HUVEC	blood vessel
13	chr12:49037400-49046400	Weak transcription	Brain Germinal Matrix	brain
14	chr12:49037400-49046800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr12:49037400-49047400	Weak transcription	Fetal Brain Male	brain
16	chr12:49037800-49056600	Strong transcription	Fetal Muscle Trunk	muscle
17	chr12:49037800-49072400	Strong transcription	Placenta	Placenta
18	chr12:49038200-49070800	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr12:49038400-49060600	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr12:49038800-49071800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:49039000-49072200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr12:49039200-49046400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr12:49039200-49047600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr12:49039400-49068800	Weak transcription	Right Atrium	heart
25	chr12:49039400-49071800	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr12:49039800-49071000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr12:49039800-49071000	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr12:49040000-49057000	Strong transcription	Dnd41	blood
29	chr12:49040000-49059400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:49040000-49072600	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr12:49040200-49047800	Weak transcription	Pancreas	Pancrea
32	chr12:49040400-49047400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr12:49040400-49051800	Strong transcription	HSMM	muscle
34	chr12:49040400-49060600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr12:49040400-49072800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr12:49041000-49046400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr12:49041000-49046400	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr12:49041000-49046400	Weak transcription	Hela-S3	cervix
39	chr12:49041000-49047400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr12:49041000-49071800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr12:49041200-49061200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr12:49041200-49068200	Strong transcription	Stomach Smooth Muscle	stomach
43	chr12:49041400-49047200	Weak transcription	Small Intestine	intestine
44	chr12:49041600-49065200	Weak transcription	Stomach Mucosa	stomach
45	chr12:49041800-49054400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr12:49041800-49065200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr12:49041800-49070800	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr12:49041800-49071000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr12:49041800-49072400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr12:49041800-49073800	Strong transcription	Fetal Intestine Large	intestine

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