Variant report

Variant	rs376963230
Chromosome Location	chr12:56582099-56582100
allele	-/AG
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	WRNIP1	chr12:56581843-56582764	GM12878	blood:	n/a	n/a
2	POLR2A	chr12:56582073-56582287	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr12:56582004-56584372	H1-hESC	embryonic stem cell:	n/a	n/a
4	MTA3	chr12:56581909-56582895	GM12878	blood:	n/a	n/a
5	SIN3A	chr12:56581989-56582181	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr12:56581896-56582370	H1-neurons	neurons:	n/a	n/a
7	ELF1	chr12:56581965-56582361	K562	blood:	n/a	n/a
8	POLR2A	chr12:56582085-56582171	K562	blood:	n/a	n/a
9	CTCF	chr12:56581960-56582110	MCF-7	breast:	n/a	n/a
10	RFX5	chr12:56581973-56582154	GM12878	blood:	n/a	n/a
11	REST	chr12:56581798-56584443	H1-neurons	neurons:	n/a	chr12:56582869-56582882 chr12:56582738-56582751

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:56581482..56583499-chr12:56651380..56653710,2	K562	blood:
2	chr12:56438470..56440539-chr12:56581199..56583152,2	MCF-7	breast:
3	chr12:56434140..56437753-chr12:56579716..56586472,8	K562	blood:
4	chr12:56579972..56582129-chr12:56725989..56727563,2	MCF-7	breast:
5	chr12:56579705..56582945-chr12:57008774..57012343,3	K562	blood:
6	chr12:56550178..56557145-chr12:56575233..56584234,22	MCF-7	breast:
7	chr12:56573305..56575645-chr12:56580157..56583977,4	MCF-7	breast:
8	chr12:56581127..56584994-chr12:56605345..56610385,5	MCF-7	breast:
9	chr12:56507991..56525761-chr12:56579808..56586137,68	MCF-7	breast:
10	chr12:56543953..56550163-chr12:56578779..56585351,11	MCF-7	breast:
11	chr12:56581557..56584767-chr12:56708519..56710789,3	K562	blood:
12	chr12:56368058..56369661-chr12:56581605..56583172,2	MCF-7	breast:
13	chr12:56518236..56525779-chr12:56581707..56584752,14	MCF-7	breast:
14	chr12:56580530..56583816-chr12:56859558..56862740,3	K562	blood:
15	chr12:56434529..56437485-chr12:56581091..56583996,4	K562	blood:
16	chr12:56579883..56589030-chr12:56613342..56620091,21	MCF-7	breast:
17	chr12:56508832..56515879-chr12:56578376..56587782,37	MCF-7	breast:
18	chr12:56438264..56440489-chr12:56580278..56583013,2	K562	blood:
19	chr12:56580668..56582547-chr12:56650453..56653065,2	MCF-7	breast:
20	chr12:56571959..56574915-chr12:56577740..56582671,5	K562	blood:
21	chr12:56576539..56578813-chr12:56582057..56584361,3	MCF-7	breast:
22	chr12:56471914..56476515-chr12:56581933..56586574,4	MCF-7	breast:
23	chr12:56579404..56590957-chr12:56614094..56620955,25	MCF-7	breast:
24	chr12:56471773..56473487-chr12:56580926..56582865,2	MCF-7	breast:
25	chr12:56582084..56583845-chr12:56753291..56755155,2	MCF-7	breast:

No data

Variant related genes	Relation type
SMARCC2	TF binding region
ENSG00000258317	Chromatin interaction
ENSG00000197728	Chromatin interaction
ENSG00000144785	Chromatin interaction
ENSG00000139579	Chromatin interaction
ENSG00000181852	Chromatin interaction
ENSG00000139613	Chromatin interaction
ENSG00000257449	Chromatin interaction
ENSG00000139641	Chromatin interaction
ENSG00000170581	Chromatin interaction
ENSG00000135473	Chromatin interaction
ENSG00000139645	Chromatin interaction
ENSG00000258345	Chromatin interaction
ENSG00000176422	Chromatin interaction
ENSG00000196465	Chromatin interaction
ENSG00000229117	Chromatin interaction
ENSG00000135482	Chromatin interaction
ENSG00000257727	Chromatin interaction
ENSG00000257809	Chromatin interaction
ENSG00000065361	Chromatin interaction
ENSG00000092841	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051961	chr12:56262220-56629427	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	284 gene(s)	inside rSNPs	diseases
2	nsv1043622	chr12:56571476-56974448	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
3	nsv541500	chr12:56571476-56974448	Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
4	esv1792521	chr12:56575188-56587576	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
5	esv3389557	chr12:56581710-56584658	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	esv3492532	chr12:56582085-56584833	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
7	esv3492533	chr12:56582085-56584833	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 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	chr12:56579200-56582200	Weak transcription	Aorta	Aorta
2	chr12:56580200-56582200	Weak transcription	Ovary	ovary
3	chr12:56580800-56582200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:56580800-56582800	Transcr. at gene 5' and 3'	Dnd41	blood
5	chr12:56581000-56582400	Transcr. at gene 5' and 3'	K562	blood
6	chr12:56581000-56582600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:56581000-56582800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr12:56581000-56582800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr12:56581200-56582200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr12:56581200-56582200	Flanking Active TSS	Brain Germinal Matrix	brain
11	chr12:56581200-56582200	Enhancers	Spleen	Spleen
12	chr12:56581200-56582200	Flanking Active TSS	NHLF	lung
13	chr12:56581200-56582600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr12:56581200-56582600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:56581200-56582600	Flanking Active TSS	Hela-S3	cervix
16	chr12:56581200-56582800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
17	chr12:56581200-56582800	Flanking Active TSS	Stomach Smooth Muscle	stomach
18	chr12:56581200-56582800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr12:56581400-56582200	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:56581400-56582200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr12:56581400-56582200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:56581400-56582200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr12:56581400-56582200	Flanking Active TSS	Fetal Brain Female	brain
24	chr12:56581400-56582200	Flanking Active TSS	Thymus	Thymus
25	chr12:56581400-56582200	Flanking Active TSS	NHDF-Ad	bronchial
26	chr12:56581400-56582400	Flanking Active TSS	Fetal Heart	heart
27	chr12:56581400-56582400	Flanking Active TSS	Fetal Lung	lung
28	chr12:56581400-56582600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr12:56581400-56582800	Flanking Active TSS	Duodenum Mucosa	Duodenum
30	chr12:56581400-56584600	Active TSS	Fetal Kidney	kidney
31	chr12:56581400-56584800	Active TSS	Colonic Mucosa	Colon
32	chr12:56581600-56582200	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr12:56581600-56582200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr12:56581600-56582200	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr12:56581600-56582200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
36	chr12:56581600-56582200	Flanking Active TSS	Fetal Brain Male	brain
37	chr12:56581600-56582200	Enhancers	Placenta	Placenta
38	chr12:56581600-56582200	Enhancers	Pancreas	Pancrea
39	chr12:56581600-56582400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr12:56581600-56582400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr12:56581600-56582400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr12:56581600-56582400	Flanking Active TSS	Brain Angular Gyrus	brain
43	chr12:56581600-56582400	Flanking Active TSS	Brain Anterior Caudate	brain
44	chr12:56581600-56582400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
45	chr12:56581600-56582400	Flanking Active TSS	Rectal Smooth Muscle	rectum
46	chr12:56581600-56582600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr12:56581600-56582600	Flanking Active TSS	Primary T cells from cord blood	blood
48	chr12:56581600-56582600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr12:56581600-56582600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr12:56581600-56582600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain

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