Variant report

Variant	rs538573158
Chromosome Location	chr12:57399620-57399621
allele	-/TACT
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57387906..57390511-chr12:57397113..57399699,3	K562	blood:
2	chr12:57398945..57400725-chr12:57479656..57482846,3	MCF-7	breast:
3	chr12:57079674..57082070-chr12:57399337..57401813,2	MCF-7	breast:
4	chr12:57398623..57401161-chr12:57471695..57473634,2	MCF-7	breast:
5	chr12:57398801..57400743-chr12:57521280..57524489,3	K562	blood:
6	chr12:57393282..57404587-chr12:57480276..57487045,17	MCF-7	breast:
7	chr12:57398801..57400719-chr12:57521892..57524489,2	K562	blood:
8	chr12:57156105..57159269-chr12:57397404..57399756,3	MCF-7	breast:
9	chr12:57388586..57390855-chr12:57398700..57400334,2	MCF-7	breast:
10	chr12:57391872..57393756-chr12:57396852..57399848,3	MCF-7	breast:
11	chr12:57387865..57389441-chr12:57397385..57400000,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258442	Chromatin interaction
ENSG00000025423	Chromatin interaction
ENSG00000166888	Chromatin interaction
ENSG00000166881	Chromatin interaction
ENSG00000268162	Chromatin interaction
ENSG00000166856	Chromatin interaction
ENSG00000123384	Chromatin interaction
ENSG00000110958	Chromatin interaction
ENSG00000166886	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	nsv428590	chr12:57329214-57527358	Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	nsv832428	chr12:57340609-57535694	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv559022	chr12:57394123-57410389	Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	esv3395929	chr12:57399110-57401658	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
6	esv3377733	chr12:57399235-57401433	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	17 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	chr12:57398600-57399800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr12:57398600-57400800	Active TSS	H1 Cell Line	embryonic stem cell
3	chr12:57398800-57399800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr12:57398800-57399800	Flanking Active TSS	Liver	Liver
5	chr12:57398800-57399800	Flanking Active TSS	Dnd41	blood
6	chr12:57398800-57400000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr12:57399000-57399800	Flanking Active TSS	Primary T cells from cord blood	blood
8	chr12:57399000-57399800	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr12:57399000-57399800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
10	chr12:57399000-57399800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
11	chr12:57399000-57399800	Flanking Active TSS	Fetal Intestine Small	intestine
12	chr12:57399000-57400000	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr12:57399000-57400000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr12:57399000-57400200	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr12:57399000-57400600	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr12:57399000-57400600	Active TSS	NHDF-Ad	bronchial
17	chr12:57399000-57400800	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr12:57399000-57400800	Active TSS	HSMM	muscle
19	chr12:57399200-57399800	Flanking Active TSS	Colon Smooth Muscle	Colon
20	chr12:57399200-57399800	Flanking Active TSS	Duodenum Mucosa	Duodenum
21	chr12:57399200-57399800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
22	chr12:57399200-57399800	Flanking Active TSS	Thymus	Thymus
23	chr12:57399200-57399800	Flanking Active TSS	HUVEC	blood vessel
24	chr12:57399200-57399800	Flanking Active TSS	NH-A	brain
25	chr12:57399200-57400400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr12:57399200-57400400	Active TSS	Lung	lung
27	chr12:57399200-57400600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr12:57399200-57400600	Active TSS	Esophagus	oesophagus
29	chr12:57399200-57400600	Active TSS	Fetal Brain Female	brain
30	chr12:57399200-57400600	Active TSS	Rectal Mucosa Donor 29	rectum
31	chr12:57399200-57400600	Active TSS	Right Ventricle	heart
32	chr12:57399200-57400800	Active TSS	H9 Cell Line	embryonic stem cell
33	chr12:57399200-57400800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr12:57399200-57400800	Active TSS	Left Ventricle	heart
35	chr12:57399200-57400800	Active TSS	Ovary	ovary
36	chr12:57399200-57400800	Active TSS	HSMMtube	muscle
37	chr12:57399200-57401000	Enhancers	Stomach Mucosa	stomach
38	chr12:57399400-57399800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr12:57399400-57399800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
40	chr12:57399400-57399800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
41	chr12:57399400-57399800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr12:57399400-57399800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr12:57399400-57399800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr12:57399400-57399800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
45	chr12:57399400-57399800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
46	chr12:57399400-57399800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr12:57399400-57399800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
48	chr12:57399400-57399800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr12:57399400-57399800	Flanking Active TSS	Placenta	Placenta
50	chr12:57399400-57399800	Flanking Active TSS	Placenta Amnion	Placenta Amnion

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