Variant report

Variant	rs572615632
Chromosome Location	chr12:123875763-123875764
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr12:123875420-123875856	HL-60	blood:	n/a	n/a
2	POLR2A	chr12:123874824-123875875	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr12:123874116-123875878	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr12:123874157-123875850	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr12:123875442-123875915	HUVEC	blood vessel:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123873719..123876506-chr12:124067448..124069174,2	K562	blood:
2	chr12:123845329..123854937-chr12:123865496..123876607,58	K562	blood:
3	chr12:123872778..123876196-chr12:124065295..124071344,6	MCF-7	breast:
4	chr12:123873866..123876385-chr12:123942538..123944226,2	MCF-7	breast:
5	chr12:123847204..123849398-chr12:123874460..123876425,2	K562	blood:
6	chr12:123872416..123876102-chr12:124017252..124019601,4	MCF-7	breast:
7	chr12:123847748..123850760-chr12:123875045..123877875,5	MCF-7	breast:
8	chr12:123874611..123876401-chr12:123967217..123969868,2	K562	blood:

No data

Variant related genes	Relation type
SETD8	TF binding region
ENSG00000086598	Chromatin interaction
ENSG00000247373	Chromatin interaction
ENSG00000139697	Chromatin interaction
ENSG00000184209	Chromatin interaction
ENSG00000188026	Chromatin interaction
ENSG00000256092	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038841	chr12:123757305-124087671	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv541622	chr12:123757305-124087671	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv1035223	chr12:123795559-123991706	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Bivalent/Poised TSS 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	48 gene(s)	inside rSNPs	diseases
4	nsv899579	chr12:123843017-123901480	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv826534	chr12:123859610-123876354	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	esv7028	chr12:123874023-123879670	Transcr. at gene 5' and 3' Strong transcription Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
7	esv2417445	chr12:123875177-123879748	Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
8	esv3449892	chr12:123875199-123879684	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
9	esv8369	chr12:123875230-123879694	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
10	esv3414733	chr12:123875275-123879643	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123874200-123876000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr12:123874200-123876200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr12:123874200-123876800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:123874400-123875800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
5	chr12:123874400-123875800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:123874800-123875800	Genic enhancers	Sigmoid Colon	Sigmoid Colon
7	chr12:123874800-123876400	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr12:123875000-123875800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr12:123875000-123875800	Genic enhancers	Primary B cells from peripheral blood	blood
10	chr12:123875000-123876200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr12:123875000-123876200	Genic enhancers	Fetal Lung	lung
12	chr12:123875000-123876200	Weak transcription	Small Intestine	intestine
13	chr12:123875000-123876800	Genic enhancers	Stomach Mucosa	stomach
14	chr12:123875000-123877400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr12:123875000-123878000	Genic enhancers	Dnd41	blood
16	chr12:123875000-123879000	Weak transcription	Ovary	ovary
17	chr12:123875000-123879200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr12:123875000-123881000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr12:123875000-123884400	Strong transcription	Thymus	Thymus
20	chr12:123875000-123886400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr12:123875200-123875800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
22	chr12:123875200-123875800	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr12:123875200-123875800	Transcr. at gene 5' and 3'	Brain Dorsolateral Prefrontal Cortex	brain
24	chr12:123875200-123875800	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
25	chr12:123875200-123875800	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
26	chr12:123875200-123876000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr12:123875200-123876200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
28	chr12:123875200-123876200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr12:123875200-123876400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
30	chr12:123875200-123876400	Genic enhancers	Liver	Liver
31	chr12:123875200-123876400	Genic enhancers	Fetal Intestine Small	intestine
32	chr12:123875200-123876400	Genic enhancers	HepG2	liver
33	chr12:123875200-123876600	Genic enhancers	Primary T cells fromperipheralblood	blood
34	chr12:123875200-123876600	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr12:123875200-123876600	Genic enhancers	Fetal Muscle Trunk	muscle
36	chr12:123875200-123876600	Genic enhancers	HSMM	muscle
37	chr12:123875200-123876800	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr12:123875200-123876800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
39	chr12:123875200-123876800	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr12:123875200-123876800	Genic enhancers	Adipose Nuclei	Adipose
41	chr12:123875200-123876800	Strong transcription	Gastric	stomach
42	chr12:123875200-123876800	Genic enhancers	Pancreas	Pancrea
43	chr12:123875200-123876800	Enhancers	Right Atrium	heart
44	chr12:123875200-123876800	Genic enhancers	Right Ventricle	heart
45	chr12:123875200-123876800	Genic enhancers	K562	blood
46	chr12:123875200-123877000	Genic enhancers	Fetal Muscle Leg	muscle
47	chr12:123875200-123877000	Genic enhancers	Stomach Smooth Muscle	stomach
48	chr12:123875200-123877400	Strong transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr12:123875200-123877400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:123875200-123877400	Genic enhancers	Muscle Satellite Cultured Cells	--

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