Variant report

Variant	rs12067174
Chromosome Location	chr1:151008452-151008453
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:4)
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	chr1:151008411-151008461	NH-A	brain:	n/a
2	chr1:151008411-151008461	AoSMC	blood vessel:	n/a
3	chr1:151008411-151008461	GM12892	blood:	n/a
4	chr1:151008411-151008461	NT2-D1	testis:	n/a
5	chr1:151008411-151008461	HRE	kidney:	n/a
6	chr1:151008411-151008461	HIPEpiC	eye:	n/a
7	chr1:151008411-151008461	GM12878	blood:	n/a
8	chr1:151008411-151008461	AG04450	lung:	fetal
9	chr1:151008411-151008461	HCM	heart:	n/a
10	chr1:151008411-151008461	MCF-7	breast:	n/a
11	chr1:151008411-151008461	AG09309	skin:	n/a
12	chr1:151008411-151008461	HCT-116	colon:	n/a
13	chr1:151008411-151008461	HAEpiC	amniotic membrane:	n/a
14	chr1:151008411-151008461	BE2_C	brain:	n/a
15	chr1:151008411-151008461	HCPEpiC	choroid plexus:	n/a
16	chr1:151008411-151008461	ovcar-3	ovarian:	n/a
17	chr1:151008411-151008461	HCF	heart:	n/a
18	chr1:151008411-151008461	Caco-2	colon:	n/a
19	chr1:151008411-151008461	SAEC	small airway:	n/a
20	chr1:151008411-151008461	RPTEC	kidney:	n/a
21	chr1:151008411-151008461	HUVEC	blood vessel:	n/a
22	chr1:151008411-151008461	PrEC	prostate:	n/a
23	chr1:151008411-151008461	Hela-S3	cervix:	n/a
24	chr1:151008411-151008461	HEK293	kidney:	embryo
25	chr1:151008411-151008461	H1-hESC	embryonic stem cell:	embryo
26	chr1:151008411-151008461	PFSK-1	brain:	n/a
27	chr1:151008411-151008461	HepG2	liver:	n/a
28	chr1:151008411-151008461	HNPCEpiC	eye:	n/a
29	chr1:151008411-151008461	GM12891	blood:	n/a
30	chr1:151008411-151008461	LNCaP	prostate:	n/a
31	chr1:151008411-151008461	HRCEpiC	kidney:	n/a
32	chr1:151008411-151008461	ProgFib	skin:	n/a
33	chr1:151008411-151008461	Hepatocyte	liver:	n/a
34	chr1:151008411-151008461	A549	lung:	n/a
35	chr1:151008411-151008461	HL-60	blood:	n/a
36	chr1:151008411-151008461	CMK	blood:	n/a
37	chr1:151008411-151008461	AG10803	skin:	n/a
38	chr1:151008411-151008461	BJ	skin:	n/a
39	chr1:151008411-151008461	HMEC	breast:	n/a
40	chr1:151008411-151008461	SK-N-MC	brain:	n/a
41	chr1:151008411-151008461	GM06990	blood:	n/a
42	chr1:151008411-151008461	MCF10A-Er-Src	breast:	n/a
43	chr1:151008411-151008461	HRPEpiC	eye:	n/a
44	chr1:151008411-151008461	AG09319	gingival:	n/a
45	chr1:151008411-151008461	ECC-1	luminal epithelium:	n/a
46	chr1:151008411-151008461	GM19239	blood:	n/a
47	chr1:151008411-151008461	NHBE	bronchial:	n/a
48	chr1:151008411-151008461	PANC-1	pancreas:	n/a
49	chr1:151008411-151008461	SK-N-SH_RA	brain:	n/a
50	chr1:151008411-151008461	Jurkat	blood:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151005028..151012583-chr1:151026392..151034442,13	K562	blood:
2	chr1:151008451..151011049-chr1:151011107..151015383,5	K562	blood:
3	chr1:150997115..151004935-chr1:151005196..151010372,8	MCF-7	breast:
4	chr1:150979416..150982558-chr1:151006468..151010604,5	MCF-7	breast:

No data

Variant related genes	Relation type
BNIPL	CpG island
ENSG00000197622	Chromatin interaction
ENSG00000143409	Chromatin interaction
ENSG00000213190	Chromatin interaction
ENSG00000163141	Chromatin interaction
ENSG00000143363	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11204765	0.85[AFR][1000 genomes]
rs11204766	0.83[AFR][1000 genomes]
rs11204774	1.00[ASW][hapmap];0.81[LWK][hapmap]
rs11204783	0.84[YRI][hapmap];1.00[EUR][1000 genomes]
rs12064646	1.00[EUR][1000 genomes]
rs12065634	1.00[EUR][1000 genomes]
rs12068365	1.00[ASW][hapmap]
rs12068631	0.84[AFR][1000 genomes]
rs12074309	1.00[ASW][hapmap]
rs12078857	0.84[ASW][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs12088079	1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];1.00[EUR][1000 genomes]
rs12088941	0.82[ASW][hapmap]
rs12089658	0.82[ASW][hapmap]
rs12090246	1.00[ASW][hapmap];0.81[LWK][hapmap]
rs16832976	1.00[ASW][hapmap];0.81[LWK][hapmap]
rs16841775	1.00[EUR][1000 genomes]
rs6587556	1.00[EUR][1000 genomes]
rs6664387	1.00[ASW][hapmap]
rs7526955	1.00[ASW][hapmap]
rs7550809	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs955955	1.00[ASW][hapmap];0.82[LWK][hapmap];0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
4	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150982000-151009000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:150989800-151010400	Strong transcription	Fetal Stomach	stomach
3	chr1:150996600-151009200	Strong transcription	Fetal Intestine Large	intestine
4	chr1:150996600-151009800	Strong transcription	Fetal Intestine Small	intestine
5	chr1:150997400-151009400	Strong transcription	Fetal Thymus	thymus
6	chr1:150997400-151009800	Strong transcription	Fetal Muscle Leg	muscle
7	chr1:150997600-151008800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr1:150997600-151009400	Strong transcription	Liver	Liver
9	chr1:150997600-151015400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr1:150997600-151019800	Weak transcription	HUVEC	blood vessel
11	chr1:150997800-151019800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr1:150999200-151010000	Strong transcription	Fetal Brain Female	brain
13	chr1:151000000-151019800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:151000000-151019800	Weak transcription	NHLF	lung
15	chr1:151000200-151019800	Weak transcription	Small Intestine	intestine
16	chr1:151001600-151009000	Weak transcription	Esophagus	oesophagus
17	chr1:151003000-151011400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr1:151003200-151009400	Strong transcription	Skeletal Muscle Female	skeletal muscle
19	chr1:151003800-151019800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr1:151004200-151009000	Weak transcription	K562	blood
21	chr1:151004400-151011400	Weak transcription	NHDF-Ad	bronchial
22	chr1:151004400-151015400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr1:151004400-151019800	Weak transcription	Fetal Kidney	kidney
24	chr1:151005800-151009400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:151006000-151008600	Strong transcription	Primary T cells from cord blood	blood
26	chr1:151006200-151008600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr1:151006200-151009000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:151006800-151015400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr1:151006800-151019800	Weak transcription	Gastric	stomach
30	chr1:151006800-151019800	Weak transcription	HepG2	liver
31	chr1:151007000-151009200	Weak transcription	HMEC	breast
32	chr1:151007000-151019000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr1:151007000-151019600	Weak transcription	Colonic Mucosa	Colon
34	chr1:151007200-151009000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr1:151007200-151009200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr1:151007200-151010600	Weak transcription	GM12878-XiMat	blood
37	chr1:151007200-151019800	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr1:151007200-151019800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr1:151007400-151009600	Enhancers	Stomach Mucosa	stomach
40	chr1:151007400-151009800	Weak transcription	Hela-S3	cervix
41	chr1:151007400-151010600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr1:151007400-151015400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr1:151007400-151019600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr1:151007400-151019800	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr1:151007400-151019800	Weak transcription	Brain Angular Gyrus	brain
46	chr1:151007400-151019800	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr1:151007600-151015400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr1:151007600-151019600	Weak transcription	Fetal Brain Male	brain
49	chr1:151007800-151008800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr1:151007800-151009200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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