Variant report

Variant	rs7550686
Chromosome Location	chr1:226614072-226614073
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226613655..226615229-chr1:226617227..226619672,2	K562	blood:
2	chr1:226607208..226608718-chr1:226613102..226615218,2	K562	blood:
3	chr1:226607208..226609606-chr1:226610785..226615218,4	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10753424	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10799350	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10915994	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1527363	0.80[ASN][1000 genomes]
rs1527365	0.81[ASN][1000 genomes]
rs1946626	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2039925	0.82[ASN][1000 genomes]
rs4653448	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4653449	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4653737	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6698490	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7554919	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs907188	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832770	chr1:226465130-226655512	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv832781	chr1:226570901-226750697	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226596200-226622600	Weak transcription	Right Atrium	heart
2	chr1:226602800-226616200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:226606000-226616200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr1:226606200-226616000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:226607400-226614200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:226608400-226616200	Weak transcription	Fetal Brain Female	brain
7	chr1:226612000-226616000	Enhancers	Dnd41	blood
8	chr1:226612400-226614200	Enhancers	Primary hematopoietic stem cells	blood
9	chr1:226612400-226616200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr1:226612400-226616400	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr1:226612600-226616000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr1:226612600-226616400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:226612600-226616800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:226612800-226616000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:226612800-226616200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr1:226612800-226616200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:226612800-226616200	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr1:226612800-226616600	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr1:226612800-226616800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:226612800-226617000	Weak transcription	Fetal Kidney	kidney
21	chr1:226612800-226617800	Weak transcription	Ovary	ovary
22	chr1:226612800-226624600	Weak transcription	Fetal Brain Male	brain
23	chr1:226613000-226617600	Enhancers	Fetal Thymus	thymus
24	chr1:226613600-226614200	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr1:226613600-226614200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:226613600-226614600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr1:226613600-226615200	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr1:226613600-226617200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr1:226613800-226614200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr1:226613800-226614200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:226613800-226614200	Enhancers	GM12878-XiMat	blood
32	chr1:226613800-226615000	Weak transcription	Primary T cells from cord blood	blood
33	chr1:226613800-226616000	Enhancers	Primary T cells fromperipheralblood	blood
34	chr1:226613800-226616400	Weak transcription	Primary B cells from cord blood	blood
35	chr1:226613800-226616600	Weak transcription	Primary B cells from peripheral blood	blood
36	chr1:226614000-226614400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr1:226614000-226616400	Weak transcription	Primary T helper cells fromperipheralblood	blood

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