Variant report

Variant	rs56369812
Chromosome Location	chr12:1751359-1751360
allele	G/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:2)
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	STAT1	chr12:1750996-1751467	Hela-S3	cervix:	n/a	chr12:1751201-1751215 chr12:1751204-1751212 chr12:1751202-1751213 chr12:1751198-1751218
2	HDAC2	chr12:1751181-1751526	MCF-7	breast:	n/a	n/a
3	ZNF217	chr12:1751140-1751452	MCF-7	breast:	n/a	n/a
4	GATA3	chr12:1750984-1751591	MCF-7	breast:	n/a	n/a
5	NR2F2	chr12:1751035-1751635	MCF-7	breast:	n/a	n/a
6	GATA3	chr12:1751115-1751575	MCF-7	breast:	n/a	n/a
7	EP300	chr12:1751039-1751588	MCF-7	breast:	n/a	n/a
8	NR2F2	chr12:1751053-1751452	MCF-7	breast:	n/a	n/a
9	FOXM1	chr12:1751040-1751530	MCF-7	breast:	n/a	n/a
10	GATA3	chr12:1750940-1751533	MCF-7	breast:	n/a	n/a
11	SIN3AK20	chr12:1750992-1751699	MCF-7	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:1751357-1751407	K562	blood:	n/a
2	chr12:1751357-1751407	NHBE	bronchial:	n/a
3	chr12:1751357-1751407	GM12892	blood:	n/a
4	chr12:1751357-1751407	GM19239	blood:	n/a
5	chr12:1751357-1751407	HUVEC	blood vessel:	n/a
6	chr12:1751357-1751407	PrEC	prostate:	n/a
7	chr12:1751357-1751407	HepG2	liver:	n/a
8	chr12:1751357-1751407	HNPCEpiC	eye:	n/a
9	chr12:1751357-1751407	BE2_C	brain:	n/a
10	chr12:1751357-1751407	NB4	blood:	n/a
11	chr12:1751357-1751407	HPAEpiC	pulmonary alveolar:	n/a
12	chr12:1751357-1751407	AG09319	gingival:	n/a
13	chr12:1751357-1751407	IMR90	lung:	fetal
14	chr12:1751357-1751407	SKMC	muscle:	n/a
15	chr12:1751357-1751407	H1-hESC	embryonic stem cell:	embryo
16	chr12:1751357-1751407	HMEC	breast:	n/a
17	chr12:1751357-1751407	GM12878	blood:	n/a
18	chr12:1751357-1751407	SK-N-SH_RA	brain:	n/a
19	chr12:1751357-1751407	AG10803	skin:	n/a
20	chr12:1751357-1751407	HRCEpiC	kidney:	n/a
21	chr12:1751357-1751407	HL-60	blood:	n/a
22	chr12:1751357-1751407	RPTEC	kidney:	n/a
23	chr12:1751357-1751407	HCF	heart:	n/a
24	chr12:1751357-1751407	HRE	kidney:	n/a
25	chr12:1751357-1751407	HAEpiC	amniotic membrane:	n/a
26	chr12:1751357-1751407	NT2-D1	testis:	n/a
27	chr12:1751357-1751407	U87	brain:	n/a
28	chr12:1751357-1751407	GM06990	blood:	n/a
29	chr12:1751357-1751407	AG09309	skin:	n/a
30	chr12:1751357-1751407	Jurkat	blood:	n/a
31	chr12:1751357-1751407	HCM	heart:	n/a
32	chr12:1751357-1751407	HEK293	kidney:	embryo
33	chr12:1751357-1751407	GM12891	blood:	n/a
34	chr12:1751357-1751407	ovcar-3	ovarian:	n/a
35	chr12:1751357-1751407	AoSMC	blood vessel:	n/a
36	chr12:1751357-1751407	NHDF-neo	bronchial:	n/a
37	chr12:1751357-1751407	ECC-1	luminal epithelium:	n/a
38	chr12:1751357-1751407	BJ	skin:	n/a
39	chr12:1751357-1751407	HRPEpiC	eye:	n/a
40	chr12:1751357-1751407	HCT-116	colon:	n/a
41	chr12:1751357-1751407	HCPEpiC	choroid plexus:	n/a
42	chr12:1751357-1751407	MCF10A-Er-Src	breast:	n/a
43	chr12:1751357-1751407	CMK	blood:	n/a
44	chr12:1751357-1751407	Hela-S3	cervix:	n/a
45	chr12:1751357-1751407	NH-A	brain:	n/a
46	chr12:1751357-1751407	LNCaP	prostate:	n/a
47	chr12:1751357-1751407	SAEC	small airway:	n/a
48	chr12:1751357-1751407	Hepatocyte	liver:	n/a
49	chr12:1751357-1751407	MCF-7	breast:	n/a
50	chr12:1751357-1751407	AG04450	lung:	fetal

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:1748743..1751681-chr12:1751691..1754305,2	MCF-7	breast:
2	chr12:1750618..1752879-chr12:1756177..1759095,2	K562	blood:

No data

Variant related genes	Relation type
WNT5B	TF binding region
WNT5B	CpG island
ENSG00000111186	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11061904	1.00[EUR][1000 genomes]
rs1860049	1.00[EUR][1000 genomes]
rs2041059	1.00[EUR][1000 genomes]
rs2108398	1.00[EUR][1000 genomes]
rs2369974	1.00[EUR][1000 genomes]
rs2370054	1.00[EUR][1000 genomes]
rs35510932	1.00[EUR][1000 genomes]
rs4765838	1.00[EUR][1000 genomes]
rs4766411	1.00[EUR][1000 genomes]
rs4766420	1.00[EUR][1000 genomes]
rs6489321	1.00[EUR][1000 genomes]
rs6489325	1.00[EUR][1000 genomes]
rs7133749	1.00[EUR][1000 genomes]
rs7135229	1.00[EUR][1000 genomes]
rs7297878	1.00[EUR][1000 genomes]
rs7304843	1.00[EUR][1000 genomes]
rs7308757	1.00[EUR][1000 genomes]
rs7314133	1.00[EUR][1000 genomes]
rs74061311	1.00[EUR][1000 genomes]
rs74061331	1.00[EUR][1000 genomes]
rs74061332	1.00[EUR][1000 genomes]
rs758026	1.00[EUR][1000 genomes]
rs758027	1.00[EUR][1000 genomes]
rs758169	1.00[EUR][1000 genomes]
rs7957003	1.00[EUR][1000 genomes]
rs7962777	1.00[EUR][1000 genomes]
rs7964434	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042863	chr12:1163817-1902302	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv541345	chr12:1163817-1902302	Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv898584	chr12:1607390-1783251	Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv826180	chr12:1614395-1759431	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv826181	chr12:1619798-1754941	Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv832304	chr12:1710249-1868642	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv898587	chr12:1732295-1756642	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
8	nsv898588	chr12:1736314-1755960	Bivalent Enhancer Enhancers Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
9	nsv898589	chr12:1738111-1755654	Bivalent/Poised TSS Bivalent Enhancer Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
10	nsv898590	chr12:1740171-1757743	Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
11	nsv898591	chr12:1745208-1755960	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
12	nsv523570	chr12:1749905-1753290	Genic enhancers Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv468964	chr12:1749905-1769930	Strong transcription Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
14	nsv556995	chr12:1749905-1769930	Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1739800-1753800	Weak transcription	Esophagus	oesophagus
2	chr12:1740600-1753400	Strong transcription	Osteobl	bone
3	chr12:1740600-1755000	Weak transcription	Spleen	Spleen
4	chr12:1740800-1753200	Weak transcription	NH-A	brain
5	chr12:1740800-1753600	Weak transcription	Placenta	Placenta
6	chr12:1740800-1757400	Weak transcription	GM12878-XiMat	blood
7	chr12:1741400-1752800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr12:1742000-1753400	Weak transcription	NHEK	skin
9	chr12:1743600-1759000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr12:1744000-1753000	Weak transcription	Colon Smooth Muscle	Colon
11	chr12:1744000-1753200	Weak transcription	Colonic Mucosa	Colon
12	chr12:1744200-1751600	Weak transcription	Duodenum Mucosa	Duodenum
13	chr12:1744200-1753400	Weak transcription	Adipose Nuclei	Adipose
14	chr12:1744400-1752000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr12:1744400-1753000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr12:1744400-1753200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr12:1744400-1753200	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr12:1744400-1759000	Weak transcription	Right Ventricle	heart
19	chr12:1744600-1753000	Weak transcription	Brain Cingulate Gyrus	brain
20	chr12:1744600-1753000	Weak transcription	Brain Substantia Nigra	brain
21	chr12:1744600-1758000	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr12:1745000-1751400	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr12:1745000-1753200	Weak transcription	Brain Hippocampus Middle	brain
24	chr12:1745200-1751400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr12:1745600-1753600	Weak transcription	Liver	Liver
26	chr12:1746200-1752000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr12:1746600-1758000	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr12:1747600-1752000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr12:1747800-1754600	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr12:1747800-1755800	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr12:1747800-1756000	Weak transcription	K562	blood
32	chr12:1748000-1753400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr12:1748000-1753600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr12:1748200-1753400	Weak transcription	HSMM	muscle
35	chr12:1748600-1753000	Enhancers	Fetal Brain Male	brain
36	chr12:1748800-1753200	Weak transcription	Lung	lung
37	chr12:1749200-1751600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr12:1749200-1752600	Strong transcription	NHDF-Ad	bronchial
39	chr12:1749200-1760200	Weak transcription	Gastric	stomach
40	chr12:1749400-1753400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr12:1749600-1751400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr12:1749800-1753000	Weak transcription	Fetal Lung	lung
43	chr12:1749800-1753400	Weak transcription	Stomach Mucosa	stomach
44	chr12:1750000-1752200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr12:1750000-1753200	Weak transcription	Fetal Thymus	thymus
46	chr12:1750000-1754800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr12:1750000-1766800	Weak transcription	Pancreas	Pancrea
48	chr12:1750200-1751600	Weak transcription	Fetal Stomach	stomach
49	chr12:1750200-1753000	Weak transcription	Brain Anterior Caudate	brain
50	chr12:1750200-1753000	Enhancers	Fetal Brain Female	brain

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