Variant report

Variant	rs1691251
Chromosome Location	chr1:247027779-247027780
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:247027725..247030371-chr1:247093774..247095818,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153207	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10802450	0.92[ASN][1000 genomes]
rs1110068	0.81[GIH][hapmap]
rs1630829	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1892117	0.82[AMR][1000 genomes]
rs2800222	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2996549	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2996550	0.81[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.87[MKK][hapmap];0.95[TSI][hapmap];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5021094	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6685066	0.81[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];0.87[LWK][hapmap];0.95[MEX][hapmap];0.92[MKK][hapmap];0.95[TSI][hapmap];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6688227	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7526386	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7528980	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7530860	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9783081	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	nsv873421	chr1:246818634-247044692	Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
8	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
9	nsv511751	chr1:247026348-247029920	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
10	esv2446831	chr1:247027113-247028693	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
11	esv1940734	chr1:247027706-247028393	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
12	esv3321482	chr1:247027768-247028288	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247002000-247038200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:247002200-247031400	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr1:247002200-247033800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:247002200-247034200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:247002200-247082400	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr1:247002400-247081000	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr1:247002800-247032600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:247002800-247043200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr1:247003200-247029200	Strong transcription	Fetal Thymus	thymus
10	chr1:247003200-247042200	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr1:247003200-247042800	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr1:247003400-247043000	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr1:247003400-247044600	Strong transcription	Dnd41	blood
14	chr1:247004000-247040800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr1:247004000-247041200	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr1:247004000-247042800	Strong transcription	Primary T cells from cord blood	blood
17	chr1:247004000-247053600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:247004200-247042400	Strong transcription	Primary B cells from peripheral blood	blood
19	chr1:247004200-247042800	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr1:247004200-247043000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:247004200-247044400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr1:247004200-247044400	Strong transcription	Liver	Liver
23	chr1:247004200-247083400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:247004400-247043000	Strong transcription	Adipose Nuclei	Adipose
25	chr1:247004400-247044600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr1:247005200-247079800	Weak transcription	Stomach Mucosa	stomach
27	chr1:247006000-247029000	Strong transcription	Muscle Satellite Cultured Cells	--
28	chr1:247006600-247071600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr1:247008800-247027800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:247009600-247031000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr1:247010000-247041200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr1:247010600-247029000	Strong transcription	Osteobl	bone
33	chr1:247013000-247032800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:247014000-247030800	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr1:247014800-247030400	Strong transcription	Hela-S3	cervix
36	chr1:247015000-247029000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr1:247015400-247032600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr1:247018400-247056400	Weak transcription	Fetal Heart	heart
39	chr1:247018600-247033000	Weak transcription	Psoas Muscle	Psoas
40	chr1:247019400-247027800	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr1:247020000-247029000	Strong transcription	HepG2	liver
42	chr1:247020400-247072800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr1:247020800-247034400	Weak transcription	Aorta	Aorta
44	chr1:247022000-247043000	Strong transcription	A549	lung
45	chr1:247022400-247042800	Weak transcription	Gastric	stomach
46	chr1:247022800-247028400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr1:247023000-247032800	Weak transcription	Fetal Brain Male	brain
48	chr1:247023400-247028400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr1:247023400-247032400	Weak transcription	Esophagus	oesophagus
50	chr1:247023400-247040800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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