Variant report

Variant	rs12053075
Chromosome Location	chr2:11810582-11810583
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
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	MAX	chr2:11809585-11810617	H1-hESC	embryonic stem cell:	n/a	n/a
2	REST	chr2:11809864-11810582	MCF-7	breast:	n/a	n/a
3	MAX	chr2:11809585-11810621	H1-hESC	embryonic stem cell:	n/a	n/a
4	E2F6	chr2:11809562-11810646	H1-hESC	embryonic stem cell:	n/a	n/a
5	REST	chr2:11809596-11810771	PFSK-1	brain:	n/a	n/a
6	REST	chr2:11809692-11810654	ECC-1	luminal epithelium:	n/a	n/a
7	HA-E2F1	chr2:11809758-11810594	MCF-7	breast:	n/a	n/a
8	NR2F2	chr2:11809986-11810859	MCF-7	breast:	n/a	n/a
9	REST	chr2:11809620-11810701	HL-60	blood:	n/a	n/a
10	REST	chr2:11809758-11810751	HepG2	liver:	n/a	n/a
11	REST	chr2:11809650-11810744	A549	lung:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:11810534-11810584	HEEpiC	esophagus:	n/a
2	chr2:11810534-11810584	BE2_C	brain:	n/a
3	chr2:11810534-11810584	GM12892	blood:	n/a
4	chr2:11810534-11810584	PANC-1	pancreas:	n/a
5	chr2:11810534-11810584	HCT-116	colon:	n/a
6	chr2:11810534-11810584	AG09309	skin:	n/a
7	chr2:11810534-11810584	Caco-2	colon:	n/a
8	chr2:11810534-11810584	HCF	heart:	n/a
9	chr2:11810534-11810584	NHDF-neo	bronchial:	n/a
10	chr2:11810534-11810584	MCF10A-Er-Src	breast:	n/a
11	chr2:11810534-11810584	HIPEpiC	eye:	n/a
12	chr2:11810534-11810584	HPAEpiC	pulmonary alveolar:	n/a
13	chr2:11810534-11810584	SKMC	muscle:	n/a
14	chr2:11810534-11810584	HEK293	kidney:	embryo
15	chr2:11810534-11810584	AG10803	skin:	n/a
16	chr2:11810534-11810584	HL-60	blood:	n/a
17	chr2:11810534-11810584	ECC-1	luminal epithelium:	n/a
18	chr2:11810534-11810584	AoSMC	blood vessel:	n/a
19	chr2:11810534-11810584	MCF-7	breast:	n/a
20	chr2:11810534-11810584	BJ	skin:	n/a
21	chr2:11810534-11810584	HRE	kidney:	n/a
22	chr2:11810534-11810584	AG04450	lung:	fetal
23	chr2:11810534-11810584	CMK	blood:	n/a
24	chr2:11810534-11810584	AG09319	gingival:	n/a
25	chr2:11810534-11810584	HRCEpiC	kidney:	n/a
26	chr2:11810534-11810584	HepG2	liver:	n/a
27	chr2:11810534-11810584	NHBE	bronchial:	n/a
28	chr2:11810534-11810584	AG04449	skin:	fetal
29	chr2:11810534-11810584	GM06990	blood:	n/a
30	chr2:11810534-11810584	GM12878	blood:	n/a
31	chr2:11810534-11810584	H1-hESC	embryonic stem cell:	embryo
32	chr2:11810534-11810584	ovcar-3	ovarian:	n/a
33	chr2:11810534-11810584	GM19239	blood:	n/a
34	chr2:11810534-11810584	U87	brain:	n/a
35	chr2:11810534-11810584	SK-N-MC	brain:	n/a
36	chr2:11810534-11810584	Jurkat	blood:	n/a
37	chr2:11810534-11810584	GM12891	blood:	n/a
38	chr2:11810534-11810584	HUVEC	blood vessel:	n/a
39	chr2:11810534-11810584	HRPEpiC	eye:	n/a
40	chr2:11810534-11810584	HCM	heart:	n/a
41	chr2:11810534-11810584	LNCaP	prostate:	n/a
42	chr2:11810534-11810584	Hela-S3	cervix:	n/a
43	chr2:11810534-11810584	Hepatocyte	liver:	n/a
44	chr2:11810534-11810584	K562	blood:	n/a
45	chr2:11810534-11810584	PrEC	prostate:	n/a
46	chr2:11810534-11810584	RPTEC	kidney:	n/a
47	chr2:11810534-11810584	SK-N-SH	brain:	n/a
48	chr2:11810534-11810584	SAEC	small airway:	n/a
49	chr2:11810534-11810584	HNPCEpiC	eye:	n/a
50	chr2:11810534-11810584	HAEpiC	amniotic membrane:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:11804337..11807531-chr2:11808380..11811214,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000230044	TF binding region
NTSR2	TF binding region
NTSR2	CpG island
ENSG00000230044	CpG island
ENSG00000230044	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10210590	0.94[ASN][1000 genomes]
rs11687297	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61100316	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7567183	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]

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	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
4	esv3422919	chr2:11808526-11811074	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv469449	chr2:11808654-11854012	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv580972	chr2:11808654-11854012	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11807400-11815200	Weak transcription	Hela-S3	cervix
2	chr2:11809200-11810800	Enhancers	Ovary	ovary
3	chr2:11809400-11810600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr2:11809400-11810600	Active TSS	Brain Anterior Caudate	brain
5	chr2:11809600-11810600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
6	chr2:11809600-11810600	Enhancers	Left Ventricle	heart
7	chr2:11809600-11810600	Enhancers	Pancreas	Pancrea
8	chr2:11809800-11810600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
9	chr2:11809800-11810600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:11809800-11810600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr2:11809800-11810600	Bivalent Enhancer	Colonic Mucosa	Colon
12	chr2:11809800-11810600	Bivalent/Poised TSS	Fetal Brain Female	brain
13	chr2:11809800-11810600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr2:11809800-11810600	Bivalent Enhancer	Fetal Muscle Leg	muscle
15	chr2:11809800-11810600	Bivalent Enhancer	Placenta	Placenta
16	chr2:11809800-11810600	Enhancers	Gastric	stomach
17	chr2:11809800-11810600	Enhancers	Right Atrium	heart
18	chr2:11809800-11810600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr2:11810000-11810600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:11810200-11810600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
21	chr2:11810200-11810600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
22	chr2:11810200-11810600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
23	chr2:11810200-11810600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
24	chr2:11810200-11810600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr2:11810200-11810600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:11810200-11810600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
27	chr2:11810200-11810600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
28	chr2:11810200-11810600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
29	chr2:11810200-11810600	Enhancers	Lung	lung
30	chr2:11810200-11810600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
31	chr2:11810200-11810600	Bivalent Enhancer	Stomach Mucosa	stomach
32	chr2:11810200-11810600	Bivalent/Poised TSS	A549	lung
33	chr2:11810200-11811000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
34	chr2:11810200-11811000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:11810200-11811000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr2:11810400-11810600	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr2:11810400-11810600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr2:11810400-11810600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
39	chr2:11810400-11810600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
40	chr2:11810400-11810600	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
41	chr2:11810400-11810600	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr2:11810400-11810600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
43	chr2:11810400-11810600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
44	chr2:11810400-11810600	Flanking Active TSS	Brain Cingulate Gyrus	brain
45	chr2:11810400-11810600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
46	chr2:11810400-11810600	Enhancers	Colon Smooth Muscle	Colon
47	chr2:11810400-11810600	Bivalent Enhancer	Fetal Stomach	stomach
48	chr2:11810400-11810600	Enhancers	Psoas Muscle	Psoas
49	chr2:11810400-11810600	Enhancers	Right Ventricle	heart
50	chr2:11810400-11810600	Bivalent Enhancer	Stomach Smooth Muscle	stomach

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