Variant report

Variant	rs6659764
Chromosome Location	chr1:247052411-247052412
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:247051414..247053728-chr1:247080520..247082221,2	K562	blood:
2	chr1:247017312..247021045-chr1:247051011..247055284,3	K562	blood:
3	chr1:247041147..247045524-chr1:247051435..247055344,4	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10924871	0.81[AFR][1000 genomes]
rs10924878	0.85[YRI][hapmap]
rs11800375	1.00[EUR][1000 genomes]
rs11805816	1.00[EUR][1000 genomes]
rs11806722	1.00[EUR][1000 genomes]
rs11807103	1.00[EUR][1000 genomes]
rs11807233	1.00[EUR][1000 genomes]
rs12061420	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12065654	0.94[AFR][1000 genomes]
rs12088097	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12091757	1.00[EUR][1000 genomes]
rs12092189	1.00[EUR][1000 genomes]
rs12096743	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12097308	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13375472	1.00[EUR][1000 genomes]
rs1472276	1.00[EUR][1000 genomes]
rs2067915	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3007328	1.00[EUR][1000 genomes]
rs59476689	1.00[EUR][1000 genomes]
rs6686324	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6694181	1.00[EUR][1000 genomes]
rs6696599	1.00[EUR][1000 genomes]
rs73140244	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73142235	1.00[AMR][1000 genomes]
rs73142251	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73142256	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73144222	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73146640	0.88[AFR][1000 genomes]
rs73146692	1.00[EUR][1000 genomes]
rs73148612	1.00[EUR][1000 genomes]
rs7512439	0.92[AFR][1000 genomes]
rs7516596	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7534805	1.00[EUR][1000 genomes]
rs7535104	1.00[EUR][1000 genomes]
rs7537256	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7550911	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9729188	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9887864	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949571	chr1:246688635-247240863	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv2762192	chr1:246823857-247069232	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv1006271	chr1:246832606-247276182	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv535416	chr1:246832606-247276182	Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv1011346	chr1:246868799-247133898	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	esv1810844	chr1:246988018-247054824	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv873424	chr1:246991094-247366380	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
8	nsv5276	chr1:247028364-247073098	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	nsv1005208	chr1:247037441-247597975	Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
10	nsv1000602	chr1:247044627-247226568	Enhancers Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247002200-247082400	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr1:247002400-247081000	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr1:247004000-247053600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:247004200-247083400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:247005200-247079800	Weak transcription	Stomach Mucosa	stomach
6	chr1:247006600-247071600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:247018400-247056400	Weak transcription	Fetal Heart	heart
8	chr1:247020400-247072800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr1:247031600-247071400	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr1:247033200-247060800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr1:247033600-247058000	Weak transcription	Colonic Mucosa	Colon
12	chr1:247033800-247070800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:247039000-247057200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:247039000-247070400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:247040400-247065000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr1:247043200-247057200	Weak transcription	Fetal Intestine Small	intestine
17	chr1:247043800-247082000	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr1:247044800-247070200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:247045400-247082600	Strong transcription	Dnd41	blood
20	chr1:247045600-247070800	Strong transcription	Primary hematopoietic stem cells	blood
21	chr1:247045600-247071000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr1:247045600-247071000	Strong transcription	Primary B cells from peripheral blood	blood
23	chr1:247045800-247053200	Strong transcription	Primary T cells from cord blood	blood
24	chr1:247045800-247070600	Strong transcription	Liver	Liver
25	chr1:247045800-247070800	Strong transcription	Osteobl	bone
26	chr1:247045800-247071000	Strong transcription	Adipose Nuclei	Adipose
27	chr1:247045800-247071000	Strong transcription	K562	blood
28	chr1:247045800-247071200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr1:247045800-247071600	Strong transcription	HSMM	muscle
30	chr1:247045800-247072000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:247045800-247080200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr1:247045800-247082400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr1:247045800-247083400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr1:247046000-247053400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
35	chr1:247046000-247053800	Strong transcription	GM12878-XiMat	blood
36	chr1:247046000-247055200	Strong transcription	Duodenum Mucosa	Duodenum
37	chr1:247046000-247055200	Strong transcription	HUVEC	blood vessel
38	chr1:247046000-247055200	Strong transcription	NH-A	brain
39	chr1:247046000-247055600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:247046000-247055600	Strong transcription	Primary B cells from cord blood	blood
41	chr1:247046000-247070800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr1:247046000-247070800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr1:247046000-247071000	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr1:247046000-247071200	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr1:247046000-247081400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr1:247046000-247082000	Strong transcription	Fetal Thymus	thymus
47	chr1:247046000-247082800	Strong transcription	Hela-S3	cervix
48	chr1:247046200-247053000	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr1:247046200-247071600	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr1:247046200-247081200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links