Variant report

Variant	rs4949965
Chromosome Location	chr1:95551237-95551238
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:95549239..95551783-chr1:95557722..95560296,2	K562	blood:
2	chr1:95544414..95547978-chr1:95549348..95553409,4	K562	blood:
3	chr1:95538304..95542687-chr1:95547314..95551412,4	K562	blood:
4	chr1:95549452..95551789-chr1:95607274..95610071,2	K562	blood:
5	chr1:95545358..95548450-chr1:95548611..95551467,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000172339	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1023330	0.84[CHB][hapmap]
rs10493880	0.96[CEU][hapmap];0.80[AMR][1000 genomes]
rs10735790	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[YRI][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10782996	0.88[ASN][1000 genomes]
rs10874902	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11165299	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11585462	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11591183	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12563592	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12569038	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12569207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12741128	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.81[AFR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12748237	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12751774	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2298162	0.83[JPT][hapmap]
rs2391388	0.92[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2391389	0.87[ASN][1000 genomes]
rs2766010	0.96[CEU][hapmap];0.84[CHB][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2766011	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2797622	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2893274	0.81[ASN][1000 genomes]
rs34280926	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35678413	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35888232	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4259714	0.85[ASN][1000 genomes]
rs4309032	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4339907	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4390223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4630159	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4847220	0.96[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4950056	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4950057	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4950058	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4950077	0.92[CHB][hapmap]
rs4950083	0.80[ASN][1000 genomes]
rs61774262	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6675668	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6683112	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6687388	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6687450	1.00[CEU][hapmap];0.89[CHB][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6698046	0.96[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7533303	0.84[CHB][hapmap];0.91[JPT][hapmap]
rs7537374	0.92[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7539139	0.87[ASN][1000 genomes]
rs7547662	0.80[CEU][hapmap];0.84[CHB][hapmap];0.91[JPT][hapmap]
rs9437665	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9437672	0.98[ASN][1000 genomes]
rs9437689	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9437810	0.98[ASN][1000 genomes]
rs9437812	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9437813	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9661031	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[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	nsv830636	chr1:95495849-95703126	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95546600-95552000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:95549200-95552400	Enhancers	A549	lung
3	chr1:95549200-95554200	Enhancers	Fetal Heart	heart
4	chr1:95549600-95552600	Enhancers	HepG2	liver
5	chr1:95549800-95552000	Flanking Active TSS	K562	blood
6	chr1:95549800-95553000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr1:95550000-95551800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:95550000-95553000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:95550200-95551600	Weak transcription	Adipose Nuclei	Adipose
10	chr1:95550200-95552000	Weak transcription	HSMMtube	muscle
11	chr1:95550200-95552200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:95550200-95552400	Weak transcription	HSMM	muscle
13	chr1:95550200-95552600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:95550200-95552600	Weak transcription	Fetal Intestine Large	intestine
15	chr1:95550200-95552600	Weak transcription	Fetal Lung	lung
16	chr1:95550400-95551400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr1:95550400-95551400	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr1:95550400-95551400	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr1:95550400-95551400	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr1:95550400-95551800	Weak transcription	HUVEC	blood vessel
21	chr1:95550400-95552400	Weak transcription	NHLF	lung
22	chr1:95550400-95552800	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr1:95550400-95553000	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr1:95550600-95552200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:95550600-95552400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:95550600-95552400	Weak transcription	Stomach Mucosa	stomach
27	chr1:95550600-95552400	Weak transcription	Osteobl	bone
28	chr1:95550600-95552600	Weak transcription	Fetal Intestine Small	intestine
29	chr1:95550600-95552600	Weak transcription	NHDF-Ad	bronchial
30	chr1:95550600-95552800	Enhancers	H9 Cell Line	embryonic stem cell
31	chr1:95550600-95553000	Enhancers	H1 Cell Line	embryonic stem cell
32	chr1:95550800-95552400	Weak transcription	Liver	Liver
33	chr1:95551000-95551800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr1:95551000-95552400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr1:95551200-95552200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr1:95551200-95552400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr1:95551200-95552600	Weak transcription	Psoas Muscle	Psoas
38	chr1:95551200-95552600	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr1:95551200-95552600	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr1:95551200-95553000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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