Variant report

Variant	rs578079459
Chromosome Location	chr12:51204445-51204446
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51156449..51158602-chr12:51202622..51204712,2	K562	blood:
2	chr12:51203453..51205584-chr12:51379862..51382375,2	MCF-7	breast:
3	chr12:51179438..51182295-chr12:51203599..51205649,2	MCF-7	breast:
4	chr12:51202962..51206871-chr12:51207911..51210941,4	K562	blood:
5	chr12:51159281..51161379-chr12:51202424..51204535,2	K562	blood:

Variant related genes	Relation type
ENSG00000123268	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	esv3414501	chr12:51174503-51534707	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv976745	chr12:51203441-51215185	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51188600-51207800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:51190200-51215200	Weak transcription	Pancreas	Pancrea
3	chr12:51193200-51207600	Weak transcription	Fetal Heart	heart
4	chr12:51193200-51207800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr12:51193200-51207800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:51193200-51207800	Weak transcription	Esophagus	oesophagus
7	chr12:51193200-51208000	Weak transcription	Small Intestine	intestine
8	chr12:51193200-51211200	Weak transcription	Aorta	Aorta
9	chr12:51193400-51207800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr12:51194000-51204600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr12:51194400-51204600	Weak transcription	Brain Angular Gyrus	brain
12	chr12:51194400-51204600	Weak transcription	Colon Smooth Muscle	Colon
13	chr12:51194400-51207800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr12:51194600-51207800	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr12:51194600-51214600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:51194800-51209200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr12:51198600-51215400	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr12:51199600-51209400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr12:51200400-51209200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr12:51200600-51222200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr12:51201400-51206600	Strong transcription	Dnd41	blood
22	chr12:51201400-51213800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr12:51201600-51212400	Strong transcription	Fetal Lung	lung
24	chr12:51201600-51213200	Strong transcription	Fetal Muscle Leg	muscle
25	chr12:51201800-51205800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr12:51201800-51212200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr12:51201800-51212200	Strong transcription	Fetal Intestine Large	intestine
28	chr12:51201800-51212400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr12:51201800-51213800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:51202000-51206000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr12:51202000-51206200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr12:51202000-51213000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr12:51202000-51213200	Strong transcription	Fetal Stomach	stomach
34	chr12:51202200-51205200	Strong transcription	HepG2	liver
35	chr12:51202200-51206600	Strong transcription	Thymus	Thymus
36	chr12:51202200-51213200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr12:51202200-51213200	Strong transcription	Fetal Intestine Small	intestine
38	chr12:51202200-51213800	Strong transcription	Fetal Thymus	thymus
39	chr12:51202200-51214200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr12:51202400-51206800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr12:51202600-51213800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr12:51202600-51214400	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr12:51202800-51205000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr12:51202800-51206000	Strong transcription	Skeletal Muscle Male	skeletal muscle
45	chr12:51202800-51206000	Strong transcription	Stomach Smooth Muscle	stomach
46	chr12:51202800-51208600	Strong transcription	Hela-S3	cervix
47	chr12:51202800-51213600	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr12:51202800-51214000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr12:51202800-51215000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr12:51203000-51206600	Strong transcription	Placenta	Placenta

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