Variant report

Variant	rs11174322
Chromosome Location	chr12:62499705-62499706
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	chr12:62499674-62499724	ECC-1	luminal epithelium:	n/a
2	chr12:62499674-62499724	PANC-1	pancreas:	n/a
3	chr12:62499674-62499724	NB4	blood:	n/a
4	chr12:62499674-62499724	ovcar-3	ovarian:	n/a
5	chr12:62499674-62499724	NT2-D1	testis:	n/a
6	chr12:62499674-62499724	AoSMC	blood vessel:	n/a
7	chr12:62499674-62499724	HEEpiC	esophagus:	n/a
8	chr12:62499674-62499724	Hela-S3	cervix:	n/a
9	chr12:62499674-62499724	HEK293	kidney:	embryo
10	chr12:62499674-62499724	NH-A	brain:	n/a
11	chr12:62499674-62499724	HUVEC	blood vessel:	n/a
12	chr12:62499674-62499724	HNPCEpiC	eye:	n/a
13	chr12:62499674-62499724	SK-N-SH	brain:	n/a
14	chr12:62499674-62499724	HCPEpiC	choroid plexus:	n/a
15	chr12:62499674-62499724	PFSK-1	brain:	n/a
16	chr12:62499674-62499724	IMR90	lung:	fetal
17	chr12:62499674-62499724	SK-N-SH_RA	brain:	n/a
18	chr12:62499674-62499724	K562	blood:	n/a
19	chr12:62499674-62499724	H1-hESC	embryonic stem cell:	embryo
20	chr12:62499674-62499724	CMK	blood:	n/a
21	chr12:62499674-62499724	GM19239	blood:	n/a
22	chr12:62499674-62499724	SKMC	muscle:	n/a
23	chr12:62499674-62499724	HRPEpiC	eye:	n/a
24	chr12:62499674-62499724	HepG2	liver:	n/a
25	chr12:62499674-62499724	AG04450	lung:	fetal
26	chr12:62499674-62499724	GM06990	blood:	n/a
27	chr12:62499674-62499724	BE2_C	brain:	n/a
28	chr12:62499674-62499724	A549	lung:	n/a
29	chr12:62499674-62499724	LNCaP	prostate:	n/a
30	chr12:62499674-62499724	AG09319	gingival:	n/a
31	chr12:62499674-62499724	ProgFib	skin:	n/a
32	chr12:62499674-62499724	RPTEC	kidney:	n/a
33	chr12:62499674-62499724	Hepatocyte	liver:	n/a
34	chr12:62499674-62499724	GM12892	blood:	n/a
35	chr12:62499674-62499724	GM12878	blood:	n/a
36	chr12:62499674-62499724	NHDF-neo	bronchial:	n/a
37	chr12:62499674-62499724	HMEC	breast:	n/a
38	chr12:62499674-62499724	AG09309	skin:	n/a
39	chr12:62499674-62499724	PrEC	prostate:	n/a
40	chr12:62499674-62499724	MCF10A-Er-Src	breast:	n/a
41	chr12:62499674-62499724	HCT-116	colon:	n/a
42	chr12:62499674-62499724	SAEC	small airway:	n/a
43	chr12:62499674-62499724	HRCEpiC	kidney:	n/a
44	chr12:62499674-62499724	HL-60	blood:	n/a
45	chr12:62499674-62499724	HPAEpiC	pulmonary alveolar:	n/a
46	chr12:62499674-62499724	T-47D	breast:	n/a
47	chr12:62499674-62499724	HCM	heart:	n/a
48	chr12:62499674-62499724	HIPEpiC	eye:	n/a
49	chr12:62499674-62499724	Caco-2	colon:	n/a
50	chr12:62499674-62499724	MCF-7	breast:	n/a

No data

Variant related genes	Relation type
FAM19A2	CpG island

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11174303	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11174304	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11174312	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174313	0.98[ASN][1000 genomes]
rs11174319	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174344	1.00[CHB][hapmap]
rs11174350	1.00[CHB][hapmap]
rs1146084	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs1146085	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs1146086	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs1146087	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs1146088	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs11614871	1.00[AMR][1000 genomes]
rs1245360	0.89[ASN][1000 genomes]
rs1245361	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs1245423	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs1245444	0.80[ASN][1000 genomes]
rs7978888	1.00[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832435	chr12:62407000-62601835	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62497600-62500200	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr12:62497600-62500200	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr12:62497600-62500200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr12:62497800-62500600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr12:62498200-62500400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:62498800-62500200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr12:62498800-62500200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr12:62498800-62500200	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr12:62498800-62500200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr12:62498800-62500400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr12:62498800-62500800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:62499200-62500000	Enhancers	H1 Cell Line	embryonic stem cell
13	chr12:62499200-62500200	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr12:62499600-62499800	Enhancers	H9 Cell Line	embryonic stem cell
15	chr12:62499600-62500400	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr12:62499600-62501200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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