Variant report

Variant	rs534818331
Chromosome Location	chr12:50871433-50871434
allele	G/T
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	nsv1049665	chr12:50705715-50871542	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	esv1820967	chr12:50856613-51002088	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv975631	chr12:50869725-50873862	Strong transcription Weak transcription Enhancers Genic enhancers	miRNA target site	n/a	inside rSNPs	diseases
4	nsv973063	chr12:50870962-50871669	Strong transcription Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50809600-50872200	Weak transcription	Fetal Brain Male	brain
2	chr12:50821600-50872800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr12:50825800-50873000	Strong transcription	Liver	Liver
4	chr12:50831000-50874000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:50833400-50872800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr12:50834200-50872400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr12:50844400-50872400	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr12:50846200-50873000	Strong transcription	Adipose Nuclei	Adipose
9	chr12:50846800-50872000	Weak transcription	Fetal Heart	heart
10	chr12:50849200-50878000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:50850000-50871600	Weak transcription	Small Intestine	intestine
12	chr12:50851800-50872600	Strong transcription	Dnd41	blood
13	chr12:50852400-50872200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr12:50852400-50872600	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr12:50852600-50873000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr12:50853800-50872600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr12:50854200-50873000	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr12:50856200-50872200	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr12:50856200-50872400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr12:50857600-50872400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr12:50857800-50872600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr12:50858200-50871600	Weak transcription	Spleen	Spleen
23	chr12:50858400-50872400	Strong transcription	A549	lung
24	chr12:50859000-50872800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:50859600-50871800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr12:50860400-50872400	Strong transcription	Placenta	Placenta
27	chr12:50860600-50872600	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr12:50860600-50872600	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr12:50861200-50872600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr12:50861600-50876200	Weak transcription	Right Ventricle	heart
31	chr12:50862000-50872600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr12:50863600-50872800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr12:50864400-50873600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr12:50864600-50872200	Weak transcription	Brain Cingulate Gyrus	brain
35	chr12:50866000-50871600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr12:50866600-50875800	Weak transcription	NHEK	skin
37	chr12:50866800-50872000	Strong transcription	Primary B cells from cord blood	blood
38	chr12:50867600-50872200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr12:50867800-50873000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr12:50868000-50876200	Weak transcription	Esophagus	oesophagus
41	chr12:50868400-50876200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr12:50868400-50879000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr12:50868600-50874400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr12:50868600-50874400	Weak transcription	Psoas Muscle	Psoas
45	chr12:50868800-50871600	Strong transcription	Primary hematopoietic stem cells	blood
46	chr12:50869200-50874200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr12:50869400-50875400	Weak transcription	NHLF	lung
48	chr12:50869600-50871800	Weak transcription	Fetal Kidney	kidney
49	chr12:50869600-50871800	Weak transcription	Hela-S3	cervix
50	chr12:50869600-50871800	Weak transcription	HSMMtube	muscle

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