Variant report

Variant	rs536620865
Chromosome Location	chr12:50707905-50707906
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:0)
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	chr12:50707901-50707951	Hela-S3	cervix:	n/a
2	chr12:50707901-50707951	HEK293	kidney:	embryo
3	chr12:50707901-50707951	HIPEpiC	eye:	n/a
4	chr12:50707901-50707951	PrEC	prostate:	n/a
5	chr12:50707901-50707951	SK-N-MC	brain:	n/a
6	chr12:50707901-50707951	AoSMC	blood vessel:	n/a
7	chr12:50707901-50707951	A549	lung:	n/a
8	chr12:50707901-50707951	NB4	blood:	n/a
9	chr12:50707901-50707951	H1-hESC	embryonic stem cell:	embryo
10	chr12:50707901-50707951	IMR90	lung:	fetal
11	chr12:50707901-50707951	Jurkat	blood:	n/a
12	chr12:50707901-50707951	ovcar-3	ovarian:	n/a
13	chr12:50707901-50707951	GM12891	blood:	n/a
14	chr12:50707901-50707951	PANC-1	pancreas:	n/a
15	chr12:50707901-50707951	AG09319	gingival:	n/a
16	chr12:50707901-50707951	HNPCEpiC	eye:	n/a
17	chr12:50707901-50707951	AG04450	lung:	fetal
18	chr12:50707901-50707951	NHDF-neo	bronchial:	n/a
19	chr12:50707901-50707951	SKMC	muscle:	n/a
20	chr12:50707901-50707951	HRCEpiC	kidney:	n/a
21	chr12:50707901-50707951	HAEpiC	amniotic membrane:	n/a
22	chr12:50707901-50707951	HRE	kidney:	n/a
23	chr12:50707901-50707951	HCM	heart:	n/a
24	chr12:50707901-50707951	HCT-116	colon:	n/a
25	chr12:50707901-50707951	U87	brain:	n/a
26	chr12:50707901-50707951	GM06990	blood:	n/a
27	chr12:50707901-50707951	HRPEpiC	eye:	n/a
28	chr12:50707901-50707951	HPAEpiC	pulmonary alveolar:	n/a
29	chr12:50707901-50707951	AG10803	skin:	n/a
30	chr12:50707901-50707951	HUVEC	blood vessel:	n/a
31	chr12:50707901-50707951	T-47D	breast:	n/a
32	chr12:50707901-50707951	RPTEC	kidney:	n/a
33	chr12:50707901-50707951	ECC-1	luminal epithelium:	n/a
34	chr12:50707901-50707951	Caco-2	colon:	n/a
35	chr12:50707901-50707951	HCPEpiC	choroid plexus:	n/a
36	chr12:50707901-50707951	HMEC	breast:	n/a
37	chr12:50707901-50707951	AG04449	skin:	fetal
38	chr12:50707901-50707951	BJ	skin:	n/a
39	chr12:50707901-50707951	HL-60	blood:	n/a
40	chr12:50707901-50707951	AG09309	skin:	n/a
41	chr12:50707901-50707951	HEEpiC	esophagus:	n/a
42	chr12:50707901-50707951	GM19239	blood:	n/a
43	chr12:50707901-50707951	NT2-D1	testis:	n/a
44	chr12:50707901-50707951	GM12878	blood:	n/a
45	chr12:50707901-50707951	SK-N-SH	brain:	n/a
46	chr12:50707901-50707951	NH-A	brain:	n/a
47	chr12:50707901-50707951	SAEC	small airway:	n/a
48	chr12:50707901-50707951	MCF10A-Er-Src	breast:	n/a
49	chr12:50707901-50707951	ProgFib	skin:	n/a
50	chr12:50707901-50707951	HepG2	liver:	n/a

No data

Variant related genes	Relation type
ENSG00000203421	CpG island
ENSG00000203425	CpG island

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	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer 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	117 gene(s)	inside rSNPs	diseases
2	nsv899075	chr12:50594947-50835060	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
3	esv2761738	chr12:50627292-50836427	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
4	nsv1035796	chr12:50634342-50784312	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
5	nsv702	chr12:50670870-50715934	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv1053667	chr12:50679039-50801752	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
7	nsv1054480	chr12:50691039-50859665	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
8	nsv1041563	chr12:50705715-50861699	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
9	nsv1049665	chr12:50705715-50871542	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
10	esv3350381	chr12:50707605-50708011	Weak transcription Enhancers	CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50678400-50708600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr12:50679800-50708600	Weak transcription	Liver	Liver
3	chr12:50690000-50711800	Weak transcription	Ovary	ovary
4	chr12:50692000-50719800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr12:50692400-50708800	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr12:50693600-50722800	Weak transcription	Fetal Intestine Small	intestine
7	chr12:50698800-50708600	Weak transcription	Hela-S3	cervix
8	chr12:50706000-50708800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:50706000-50708800	Weak transcription	HSMMtube	muscle
10	chr12:50706000-50708800	Weak transcription	NHLF	lung
11	chr12:50706400-50720000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr12:50706600-50708800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr12:50706800-50709000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr12:50707200-50708200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:50707400-50708800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr12:50707400-50720000	Weak transcription	Osteobl	bone
17	chr12:50707400-50720400	Weak transcription	Stomach Mucosa	stomach
18	chr12:50707600-50708800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:50707600-50708800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:50707600-50708800	Weak transcription	HMEC	breast
21	chr12:50707600-50708800	Weak transcription	NHDF-Ad	bronchial
22	chr12:50707600-50719600	Weak transcription	A549	lung
23	chr12:50707800-50708800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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