Variant report

Variant	rs538563206
Chromosome Location	chr12:50604653-50604654
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	chr12:50603033..50605751-chr12:50607010..50610517,4	K562	blood:
2	chr12:50595002..50597983-chr12:50604181..50606536,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000050405	Chromatin interaction

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	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	esv3392138	chr12:50394642-50645326	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv899075	chr12:50594947-50835060	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
4	nsv976744	chr12:50604432-50610917	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50571800-50614200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:50572200-50614000	Weak transcription	Right Ventricle	heart
3	chr12:50582800-50614000	Weak transcription	Brain Angular Gyrus	brain
4	chr12:50582800-50614200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:50583000-50614400	Weak transcription	Brain Anterior Caudate	brain
6	chr12:50591600-50615600	Weak transcription	HepG2	liver
7	chr12:50593400-50614200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:50593400-50614200	Weak transcription	Fetal Brain Male	brain
9	chr12:50593400-50614600	Weak transcription	Esophagus	oesophagus
10	chr12:50596200-50613400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:50596600-50605400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr12:50596600-50607200	Strong transcription	Fetal Intestine Small	intestine
13	chr12:50596800-50607600	Weak transcription	Stomach Mucosa	stomach
14	chr12:50596800-50614000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr12:50597800-50605000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr12:50597800-50608800	Strong transcription	Fetal Intestine Large	intestine
17	chr12:50598400-50605800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr12:50598400-50611400	Weak transcription	Spleen	Spleen
19	chr12:50598400-50613400	Weak transcription	K562	blood
20	chr12:50598600-50605200	Weak transcription	Thymus	Thymus
21	chr12:50598600-50605600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr12:50598600-50612400	Weak transcription	Psoas Muscle	Psoas
23	chr12:50598600-50613400	Weak transcription	Aorta	Aorta
24	chr12:50598600-50613400	Weak transcription	Fetal Kidney	kidney
25	chr12:50598600-50614000	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr12:50598600-50614000	Weak transcription	Brain Germinal Matrix	brain
27	chr12:50599000-50605400	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr12:50599000-50612000	Weak transcription	Gastric	stomach
29	chr12:50599000-50614200	Weak transcription	Fetal Brain Female	brain
30	chr12:50599200-50614200	Weak transcription	Brain Cingulate Gyrus	brain
31	chr12:50599400-50606000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr12:50599400-50614000	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr12:50599400-50615000	Weak transcription	Liver	Liver
34	chr12:50599600-50610200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr12:50599600-50613400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr12:50599600-50613400	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr12:50599600-50614000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr12:50599600-50614000	Weak transcription	Brain Hippocampus Middle	brain
39	chr12:50599600-50614000	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr12:50599800-50604800	Weak transcription	Dnd41	blood
41	chr12:50599800-50604800	Weak transcription	HUVEC	blood vessel
42	chr12:50599800-50605200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr12:50599800-50605200	Weak transcription	Placenta	Placenta
44	chr12:50599800-50608400	Weak transcription	Small Intestine	intestine
45	chr12:50599800-50608800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr12:50599800-50612400	Weak transcription	Colon Smooth Muscle	Colon
47	chr12:50599800-50613400	Weak transcription	Rectal Smooth Muscle	rectum
48	chr12:50599800-50613600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr12:50599800-50614000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr12:50599800-50614000	Weak transcription	Left Ventricle	heart

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