Variant report

Variant	rs181520230
Chromosome Location	chr12:123875890-123875891
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:123875875-123876179	HepG2	liver:	n/a	n/a
2	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
ENSG00000184209	Chromatin interaction
ENSG00000086598	Chromatin interaction
ENSG00000188026	Chromatin interaction
ENSG00000256092	Chromatin interaction
ENSG00000247373	Chromatin interaction
ENSG00000139697	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:125 , 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	chr12:123874800-123876400	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr12:123875000-123876200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr12:123875000-123876200	Genic enhancers	Fetal Lung	lung
7	chr12:123875000-123876200	Weak transcription	Small Intestine	intestine
8	chr12:123875000-123876800	Genic enhancers	Stomach Mucosa	stomach
9	chr12:123875000-123877400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr12:123875000-123878000	Genic enhancers	Dnd41	blood
11	chr12:123875000-123879000	Weak transcription	Ovary	ovary
12	chr12:123875000-123879200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr12:123875000-123881000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr12:123875000-123884400	Strong transcription	Thymus	Thymus
15	chr12:123875000-123886400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr12:123875200-123876000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr12:123875200-123876200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
18	chr12:123875200-123876200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr12:123875200-123876400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
20	chr12:123875200-123876400	Genic enhancers	Liver	Liver
21	chr12:123875200-123876400	Genic enhancers	Fetal Intestine Small	intestine
22	chr12:123875200-123876400	Genic enhancers	HepG2	liver
23	chr12:123875200-123876600	Genic enhancers	Primary T cells fromperipheralblood	blood
24	chr12:123875200-123876600	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr12:123875200-123876600	Genic enhancers	Fetal Muscle Trunk	muscle
26	chr12:123875200-123876600	Genic enhancers	HSMM	muscle
27	chr12:123875200-123876800	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr12:123875200-123876800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
29	chr12:123875200-123876800	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr12:123875200-123876800	Genic enhancers	Adipose Nuclei	Adipose
31	chr12:123875200-123876800	Strong transcription	Gastric	stomach
32	chr12:123875200-123876800	Genic enhancers	Pancreas	Pancrea
33	chr12:123875200-123876800	Enhancers	Right Atrium	heart
34	chr12:123875200-123876800	Genic enhancers	Right Ventricle	heart
35	chr12:123875200-123876800	Genic enhancers	K562	blood
36	chr12:123875200-123877000	Genic enhancers	Fetal Muscle Leg	muscle
37	chr12:123875200-123877000	Genic enhancers	Stomach Smooth Muscle	stomach
38	chr12:123875200-123877400	Strong transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr12:123875200-123877400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr12:123875200-123877400	Genic enhancers	Muscle Satellite Cultured Cells	--
41	chr12:123875200-123879000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr12:123875200-123880800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr12:123875200-123881000	Strong transcription	Fetal Intestine Large	intestine
44	chr12:123875200-123884400	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr12:123875200-123884600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr12:123875200-123894400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr12:123875400-123876000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr12:123875400-123876000	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr12:123875400-123876000	Strong transcription	HSMMtube	muscle
50	chr12:123875400-123876200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells	blood

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