Variant report

Variant	rs10845577
Chromosome Location	chr12:12717804-12717805
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:6)
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	chr12:12717804-12717854	HRCEpiC	kidney:	n/a
2	chr12:12717804-12717854	GM06990	blood:	n/a
3	chr12:12717804-12717854	AG10803	skin:	n/a
4	chr12:12717804-12717854	HPAEpiC	pulmonary alveolar:	n/a
5	chr12:12717804-12717854	AG04449	skin:	fetal
6	chr12:12717804-12717854	GM19239	blood:	n/a
7	chr12:12717804-12717854	AG09319	gingival:	n/a
8	chr12:12717804-12717854	ovcar-3	ovarian:	n/a
9	chr12:12717804-12717854	MCF-7	breast:	n/a
10	chr12:12717804-12717854	NB4	blood:	n/a
11	chr12:12717804-12717854	SK-N-MC	brain:	n/a
12	chr12:12717804-12717854	AG09309	skin:	n/a
13	chr12:12717804-12717854	CMK	blood:	n/a
14	chr12:12717804-12717854	K562	blood:	n/a
15	chr12:12717804-12717854	HEEpiC	esophagus:	n/a
16	chr12:12717804-12717854	NH-A	brain:	n/a
17	chr12:12717804-12717854	Hepatocyte	liver:	n/a
18	chr12:12717804-12717854	PANC-1	pancreas:	n/a
19	chr12:12717804-12717854	HMEC	breast:	n/a
20	chr12:12717804-12717854	HL-60	blood:	n/a
21	chr12:12717804-12717854	SK-N-SH	brain:	n/a
22	chr12:12717804-12717854	GM12892	blood:	n/a
23	chr12:12717804-12717854	SAEC	small airway:	n/a
24	chr12:12717804-12717854	BE2_C	brain:	n/a
25	chr12:12717804-12717854	T-47D	breast:	n/a
26	chr12:12717804-12717854	HNPCEpiC	eye:	n/a
27	chr12:12717804-12717854	HUVEC	blood vessel:	n/a
28	chr12:12717804-12717854	Caco-2	colon:	n/a
29	chr12:12717804-12717854	NHDF-neo	bronchial:	n/a
30	chr12:12717804-12717854	SKMC	muscle:	n/a
31	chr12:12717804-12717854	NHBE	bronchial:	n/a
32	chr12:12717804-12717854	HRE	kidney:	n/a
33	chr12:12717804-12717854	IMR90	lung:	fetal
34	chr12:12717804-12717854	HCF	heart:	n/a
35	chr12:12717804-12717854	BJ	skin:	n/a
36	chr12:12717804-12717854	HEK293	kidney:	embryo
37	chr12:12717804-12717854	HCT-116	colon:	n/a
38	chr12:12717804-12717854	PrEC	prostate:	n/a
39	chr12:12717804-12717854	HIPEpiC	eye:	n/a
40	chr12:12717804-12717854	ProgFib	skin:	n/a
41	chr12:12717804-12717854	HepG2	liver:	n/a
42	chr12:12717804-12717854	Jurkat	blood:	n/a
43	chr12:12717804-12717854	U87	brain:	n/a
44	chr12:12717804-12717854	HCM	heart:	n/a
45	chr12:12717804-12717854	ECC-1	luminal epithelium:	n/a
46	chr12:12717804-12717854	HRPEpiC	eye:	n/a
47	chr12:12717804-12717854	AoSMC	blood vessel:	n/a
48	chr12:12717804-12717854	AG04450	lung:	fetal
49	chr12:12717804-12717854	HAEpiC	amniotic membrane:	n/a
50	chr12:12717804-12717854	LNCaP	prostate:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:12713858..12718896-chr12:12719623..12723320,7	MCF-7	breast:
2	chr12:12710433..12719642-chr12:12755652..12767678,23	MCF-7	breast:
3	chr12:12549500..12552302-chr12:12715831..12718057,2	MCF-7	breast:
4	chr12:12712910..12717920-chr12:12867983..12871802,5	K562	blood:
5	chr12:12657878..12659784-chr12:12714344..12718404,3	K562	blood:
6	chr12:12601826..12603513-chr12:12715714..12717891,2	MCF-7	breast:

No data

Variant related genes	Relation type
DUSP16	CpG island
ENSG00000111269	Chromatin interaction
ENSG00000240424	Chromatin interaction
ENSG00000111276	Chromatin interaction
ENSG00000111266	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12818510	0.89[EUR][1000 genomes]
rs12824286	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758295	chr12:12620654-12783124	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers 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	25 gene(s)	inside rSNPs	diseases
2	esv2759880	chr12:12620654-12783124	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv898811	chr12:12655443-12928295	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12717000-12718000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr12:12717000-12718000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:12717000-12718200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:12717000-12718200	Enhancers	A549	lung
5	chr12:12717000-12718200	Enhancers	HepG2	liver
6	chr12:12717000-12720000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:12717000-12735200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr12:12717200-12718400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr12:12717400-12718200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr12:12717600-12718200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr12:12717600-12724800	Weak transcription	GM12878-XiMat	blood

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