Variant report

Variant	rs61744689
Chromosome Location	chr12:9395329-9395330
allele	A/G
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:1)
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	chr12:9395304-9395354	SK-N-MC	brain:	n/a
2	chr12:9395304-9395354	CMK	blood:	n/a
3	chr12:9395304-9395354	ECC-1	luminal epithelium:	n/a
4	chr12:9395304-9395354	AG10803	skin:	n/a
5	chr12:9395304-9395354	HCT-116	colon:	n/a
6	chr12:9395304-9395354	NHDF-neo	bronchial:	n/a
7	chr12:9395304-9395354	ovcar-3	ovarian:	n/a
8	chr12:9395304-9395354	HUVEC	blood vessel:	n/a
9	chr12:9395304-9395354	HRCEpiC	kidney:	n/a
10	chr12:9395304-9395354	AG09309	skin:	n/a
11	chr12:9395304-9395354	HRE	kidney:	n/a
12	chr12:9395304-9395354	HIPEpiC	eye:	n/a
13	chr12:9395304-9395354	NB4	blood:	n/a
14	chr12:9395304-9395354	GM19239	blood:	n/a
15	chr12:9395304-9395354	HRPEpiC	eye:	n/a
16	chr12:9395304-9395354	GM12891	blood:	n/a
17	chr12:9395304-9395354	HL-60	blood:	n/a
18	chr12:9395304-9395354	HCM	heart:	n/a
19	chr12:9395304-9395354	HCPEpiC	choroid plexus:	n/a
20	chr12:9395304-9395354	SK-N-SH_RA	brain:	n/a
21	chr12:9395304-9395354	Hela-S3	cervix:	n/a
22	chr12:9395304-9395354	BJ	skin:	n/a
23	chr12:9395304-9395354	HEK293	kidney:	embryo
24	chr12:9395304-9395354	AG04449	skin:	fetal
25	chr12:9395304-9395354	A549	lung:	n/a
26	chr12:9395304-9395354	NHBE	bronchial:	n/a
27	chr12:9395304-9395354	ProgFib	skin:	n/a
28	chr12:9395304-9395354	K562	blood:	n/a
29	chr12:9395304-9395354	HMEC	breast:	n/a
30	chr12:9395304-9395354	LNCaP	prostate:	n/a
31	chr12:9395304-9395354	AG09319	gingival:	n/a
32	chr12:9395304-9395354	HepG2	liver:	n/a
33	chr12:9395304-9395354	Hepatocyte	liver:	n/a
34	chr12:9395304-9395354	RPTEC	kidney:	n/a
35	chr12:9395304-9395354	HAEpiC	amniotic membrane:	n/a
36	chr12:9395304-9395354	MCF10A-Er-Src	breast:	n/a
37	chr12:9395304-9395354	BE2_C	brain:	n/a
38	chr12:9395304-9395354	U87	brain:	n/a
39	chr12:9395304-9395354	GM06990	blood:	n/a
40	chr12:9395304-9395354	T-47D	breast:	n/a
41	chr12:9395304-9395354	HNPCEpiC	eye:	n/a
42	chr12:9395304-9395354	AoSMC	blood vessel:	n/a
43	chr12:9395304-9395354	GM12892	blood:	n/a
44	chr12:9395304-9395354	Jurkat	blood:	n/a
45	chr12:9395304-9395354	NH-A	brain:	n/a
46	chr12:9395304-9395354	PFSK-1	brain:	n/a
47	chr12:9395304-9395354	HPAEpiC	pulmonary alveolar:	n/a
48	chr12:9395304-9395354	SK-N-SH	brain:	n/a
49	chr12:9395304-9395354	AG04450	lung:	fetal
50	chr12:9395304-9395354	Caco-2	colon:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:9389499..9391072-chr12:9394393..9395954,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000256427	CpG island
PTMAP4	CpG island

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10492112	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10492113	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv1045317	chr12:9113216-9544655	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	nsv1048491	chr12:9208806-9544655	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
3	nsv527404	chr12:9250601-9435244	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv523958	chr12:9303440-9549072	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
5	nsv557355	chr12:9309995-9529015	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
6	nsv1035953	chr12:9314481-9544655	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
7	nsv427903	chr12:9371593-9830668	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
8	esv2758293	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
9	esv2759878	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
10	nsv1048917	chr12:9393282-9436132	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9393200-9395400	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr12:9393200-9395800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:9393200-9396800	Weak transcription	Psoas Muscle	Psoas
4	chr12:9393200-9397400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:9393200-9397400	Weak transcription	Pancreas	Pancrea
6	chr12:9393200-9397400	Weak transcription	Right Ventricle	heart
7	chr12:9393400-9397400	Weak transcription	HMEC	breast
8	chr12:9393400-9398200	Enhancers	HepG2	liver
9	chr12:9393600-9408200	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr12:9393600-9411400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr12:9394200-9395400	Enhancers	Brain Anterior Caudate	brain
12	chr12:9394200-9395800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr12:9394200-9395800	Weak transcription	Brain Substantia Nigra	brain
14	chr12:9394200-9397200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr12:9394200-9397800	Enhancers	Brain Hippocampus Middle	brain
16	chr12:9394400-9396400	Weak transcription	Liver	Liver
17	chr12:9394600-9396800	Weak transcription	Fetal Lung	lung
18	chr12:9394800-9396000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr12:9395000-9397400	Weak transcription	Brain Angular Gyrus	brain
20	chr12:9395200-9407800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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