Variant report

Variant	rs111753953
Chromosome Location	chr12:123758100-123758101
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:123758062-123758112	RPTEC	kidney:	n/a
2	chr12:123758062-123758112	HL-60	blood:	n/a
3	chr12:123758062-123758112	A549	lung:	n/a
4	chr12:123758062-123758112	AG04449	skin:	fetal
5	chr12:123758062-123758112	GM19239	blood:	n/a
6	chr12:123758062-123758112	HRE	kidney:	n/a
7	chr12:123758062-123758112	T-47D	breast:	n/a
8	chr12:123758062-123758112	HRPEpiC	eye:	n/a
9	chr12:123758062-123758112	HUVEC	blood vessel:	n/a
10	chr12:123758062-123758112	HAEpiC	amniotic membrane:	n/a
11	chr12:123758062-123758112	NB4	blood:	n/a
12	chr12:123758062-123758112	SK-N-MC	brain:	n/a
13	chr12:123758062-123758112	ovcar-3	ovarian:	n/a
14	chr12:123758062-123758112	ECC-1	luminal epithelium:	n/a
15	chr12:123758062-123758112	HCPEpiC	choroid plexus:	n/a
16	chr12:123758062-123758112	MCF10A-Er-Src	breast:	n/a
17	chr12:123758062-123758112	ProgFib	skin:	n/a
18	chr12:123758062-123758112	HCT-116	colon:	n/a
19	chr12:123758062-123758112	Jurkat	blood:	n/a
20	chr12:123758062-123758112	AG10803	skin:	n/a
21	chr12:123758062-123758112	HEEpiC	esophagus:	n/a
22	chr12:123758062-123758112	AG09309	skin:	n/a
23	chr12:123758062-123758112	MCF-7	breast:	n/a
24	chr12:123758062-123758112	K562	blood:	n/a
25	chr12:123758062-123758112	HIPEpiC	eye:	n/a
26	chr12:123758062-123758112	PrEC	prostate:	n/a
27	chr12:123758062-123758112	Hepatocyte	liver:	n/a
28	chr12:123758062-123758112	Caco-2	colon:	n/a
29	chr12:123758062-123758112	HCF	heart:	n/a
30	chr12:123758062-123758112	H1-hESC	embryonic stem cell:	embryo
31	chr12:123758062-123758112	HEK293	kidney:	embryo
32	chr12:123758062-123758112	AoSMC	blood vessel:	n/a
33	chr12:123758062-123758112	SAEC	small airway:	n/a
34	chr12:123758062-123758112	HRCEpiC	kidney:	n/a
35	chr12:123758062-123758112	GM12892	blood:	n/a
36	chr12:123758062-123758112	SKMC	muscle:	n/a
37	chr12:123758062-123758112	SK-N-SH_RA	brain:	n/a
38	chr12:123758062-123758112	HepG2	liver:	n/a
39	chr12:123758062-123758112	HCM	heart:	n/a
40	chr12:123758062-123758112	NH-A	brain:	n/a
41	chr12:123758062-123758112	IMR90	lung:	fetal
42	chr12:123758062-123758112	CMK	blood:	n/a
43	chr12:123758062-123758112	GM12891	blood:	n/a
44	chr12:123758062-123758112	SK-N-SH	brain:	n/a
45	chr12:123758062-123758112	AG04450	lung:	fetal
46	chr12:123758062-123758112	HMEC	breast:	n/a
47	chr12:123758062-123758112	U87	brain:	n/a
48	chr12:123758062-123758112	BE2_C	brain:	n/a
49	chr12:123758062-123758112	BJ	skin:	n/a
50	chr12:123758062-123758112	GM06990	blood:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123755164..123758333-chr12:123868507..123873426,5	K562	blood:
2	chr12:123756475..123758463-chr12:123849452..123851589,2	K562	blood:
3	chr12:123749757..123758492-chr12:123844437..123851411,15	MCF-7	breast:
4	chr12:123755389..123758333-chr12:123866833..123870129,4	K562	blood:

No data

Variant related genes	Relation type
CDK2AP1	CpG island
ENSG00000256092	Chromatin interaction
ENSG00000139697	Chromatin interaction
ENSG00000183955	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	esv1825473	chr12:123582855-123822503	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv1803368	chr12:123640853-123822503	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
3	esv1830566	chr12:123640853-123822503	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
4	esv1836043	chr12:123709409-123822503	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
5	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
6	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

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123756800-123758200	Flanking Active TSS	Brain Germinal Matrix	brain
2	chr12:123756800-123758400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:123757200-123759200	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr12:123757200-123761800	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr12:123757200-123762400	Weak transcription	Primary B cells from peripheral blood	blood
6	chr12:123757200-123762600	Weak transcription	GM12878-XiMat	blood
7	chr12:123757200-123773800	Weak transcription	Duodenum Mucosa	Duodenum
8	chr12:123757200-123774000	Weak transcription	K562	blood
9	chr12:123757200-123782600	Weak transcription	Right Atrium	heart
10	chr12:123757400-123759200	Enhancers	Fetal Brain Male	brain
11	chr12:123757400-123762200	Weak transcription	HUVEC	blood vessel
12	chr12:123757600-123758200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:123757600-123758200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr12:123757600-123762000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr12:123757600-123762000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr12:123757600-123762000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr12:123757600-123762000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr12:123757600-123762800	Weak transcription	NH-A	brain
19	chr12:123757600-123773400	Weak transcription	Fetal Muscle Leg	muscle
20	chr12:123757600-123773400	Weak transcription	Fetal Thymus	thymus
21	chr12:123757600-123773800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr12:123757800-123771400	Weak transcription	A549	lung
23	chr12:123758000-123771600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr12:123758000-123773400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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