Variant report

Variant	rs7556386
Chromosome Location	chr1:151825991-151825992
allele	G/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:2)
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	chr1:151825974-151826024	HCT-116	colon:	n/a
2	chr1:151825974-151826024	ECC-1	luminal epithelium:	n/a
3	chr1:151825974-151826024	HEK293	kidney:	embryo
4	chr1:151825974-151826024	GM12891	blood:	n/a
5	chr1:151825974-151826024	HPAEpiC	pulmonary alveolar:	n/a
6	chr1:151825974-151826024	NHDF-neo	bronchial:	n/a
7	chr1:151825974-151826024	T-47D	breast:	n/a
8	chr1:151825974-151826024	SAEC	small airway:	n/a
9	chr1:151825974-151826024	PANC-1	pancreas:	n/a
10	chr1:151825974-151826024	CMK	blood:	n/a
11	chr1:151825974-151826024	HNPCEpiC	eye:	n/a
12	chr1:151825974-151826024	PrEC	prostate:	n/a
13	chr1:151825974-151826024	HRCEpiC	kidney:	n/a
14	chr1:151825974-151826024	NH-A	brain:	n/a
15	chr1:151825974-151826024	U87	brain:	n/a
16	chr1:151825974-151826024	RPTEC	kidney:	n/a
17	chr1:151825974-151826024	NB4	blood:	n/a
18	chr1:151825974-151826024	ovcar-3	ovarian:	n/a
19	chr1:151825974-151826024	LNCaP	prostate:	n/a
20	chr1:151825974-151826024	HIPEpiC	eye:	n/a
21	chr1:151825974-151826024	BJ	skin:	n/a
22	chr1:151825974-151826024	BE2_C	brain:	n/a
23	chr1:151825974-151826024	ProgFib	skin:	n/a
24	chr1:151825974-151826024	MCF10A-Er-Src	breast:	n/a
25	chr1:151825974-151826024	Jurkat	blood:	n/a
26	chr1:151825974-151826024	HMEC	breast:	n/a
27	chr1:151825974-151826024	AG10803	skin:	n/a
28	chr1:151825974-151826024	NHBE	bronchial:	n/a
29	chr1:151825974-151826024	HRPEpiC	eye:	n/a
30	chr1:151825974-151826024	NT2-D1	testis:	n/a
31	chr1:151825974-151826024	HUVEC	blood vessel:	n/a
32	chr1:151825974-151826024	Hepatocyte	liver:	n/a
33	chr1:151825974-151826024	HL-60	blood:	n/a
34	chr1:151825974-151826024	AG09309	skin:	n/a
35	chr1:151825974-151826024	A549	lung:	n/a
36	chr1:151825974-151826024	HCF	heart:	n/a
37	chr1:151825974-151826024	HCM	heart:	n/a
38	chr1:151825974-151826024	MCF-7	breast:	n/a
39	chr1:151825974-151826024	PFSK-1	brain:	n/a
40	chr1:151825974-151826024	HCPEpiC	choroid plexus:	n/a
41	chr1:151825974-151826024	Caco-2	colon:	n/a
42	chr1:151825974-151826024	AG04449	skin:	fetal
43	chr1:151825974-151826024	GM19239	blood:	n/a
44	chr1:151825974-151826024	SK-N-MC	brain:	n/a
45	chr1:151825974-151826024	AG04450	lung:	fetal
46	chr1:151825974-151826024	K562	blood:	n/a
47	chr1:151825974-151826024	SKMC	muscle:	n/a
48	chr1:151825974-151826024	AoSMC	blood vessel:	n/a
49	chr1:151825974-151826024	IMR90	lung:	fetal
50	chr1:151825974-151826024	AG09319	gingival:	n/a

No data

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OAZ3-2	chr1:151822709-151826517	NONHSAT006440
2	lnc-OAZ3-2	chr1:151822709-151826136	NONHSAT006442

No data

Variant related genes	Relation type
THEM5	CpG island

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1056037	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1129117	0.85[ASN][1000 genomes]
rs12029913	0.81[ASN][1000 genomes]
rs12567049	0.85[ASN][1000 genomes]
rs12727170	0.85[CHD][hapmap]
rs16833599	0.86[CHB][hapmap]
rs16833604	0.90[CHB][hapmap];0.85[ASN][1000 genomes]
rs2279503	0.92[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.82[GIH][hapmap];0.95[JPT][hapmap];0.89[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2879130	0.86[CHB][hapmap];0.90[CHD][hapmap];0.85[ASN][1000 genomes]
rs4845624	0.86[CHB][hapmap];0.82[TSI][hapmap];0.81[ASN][1000 genomes]
rs60166269	0.89[ASN][1000 genomes]
rs61815147	0.90[ASN][1000 genomes]
rs6587622	0.81[CHB][hapmap];0.83[ASN][1000 genomes]
rs6587625	0.91[CHB][hapmap];0.90[CHD][hapmap];0.89[ASN][1000 genomes]
rs745055	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7524706	0.91[CHB][hapmap];0.89[ASN][1000 genomes]
rs923547	0.81[CHB][hapmap];0.80[CHD][hapmap];0.86[ASN][1000 genomes]
rs998500	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs998501	0.81[CHB][hapmap];0.85[ASN][1000 genomes]

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	nsv1008033	chr1:151785029-151843154	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 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	chr1:151813400-151828600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr1:151814800-151827400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr1:151819200-151827200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:151819200-151847600	Weak transcription	Thymus	Thymus
5	chr1:151820600-151827200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:151821000-151830600	Weak transcription	Right Atrium	heart
7	chr1:151821400-151832400	Weak transcription	Spleen	Spleen
8	chr1:151821600-151845600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr1:151824000-151827800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:151824400-151826400	Enhancers	Placenta	Placenta
11	chr1:151824400-151826600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:151824400-151828200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:151824600-151827800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:151824800-151826000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr1:151824800-151828400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:151825200-151826600	Weak transcription	Right Ventricle	heart
17	chr1:151825600-151826200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:151825800-151826200	Enhancers	Esophagus	oesophagus
19	chr1:151825800-151826200	Enhancers	Gastric	stomach
20	chr1:151825800-151826400	Enhancers	Hela-S3	cervix

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