Variant report

Variant	rs6727483
Chromosome Location	chr2:100045247-100045248
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:100040660..100042299-chr2:100044487..100046837,3	K562	blood:
2	chr2:100019346..100021218-chr2:100043372..100045288,2	MCF-7	breast:
3	chr2:100040044..100044380-chr2:100044487..100048478,6	K562	blood:
4	chr2:100043076..100046018-chr2:100104970..100106653,2	MCF-7	breast:
5	chr2:100045232..100047151-chr2:100053855..100056471,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135945	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs1011633	0.89[JPT][hapmap]
rs10207981	0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs1053544	0.84[CHB][hapmap];0.89[JPT][hapmap]
rs11123775	0.89[JPT][hapmap]
rs11123785	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11884686	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs11892441	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs11899745	0.89[JPT][hapmap]
rs12053519	1.00[JPT][hapmap]
rs12053566	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12233086	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12233126	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12464785	0.85[CHB][hapmap];0.94[JPT][hapmap]
rs1451245	0.91[CEU][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1584647	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs1584648	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs17022433	0.89[JPT][hapmap]
rs17022564	0.94[JPT][hapmap]
rs17022629	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs2200578	1.00[JPT][hapmap]
rs2242036	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2290255	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs2290257	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs2290261	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs2309617	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs28369925	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28369944	0.84[EUR][1000 genomes]
rs28382892	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28382949	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3749087	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs3791212	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs3791213	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3792135	0.91[CEU][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3792136	1.00[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];0.86[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3792137	0.89[JPT][hapmap]
rs3792142	0.88[JPT][hapmap]
rs4143760	0.89[JPT][hapmap]
rs4851206	0.89[JPT][hapmap]
rs57043099	0.88[AMR][1000 genomes]
rs58766196	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59360884	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs60572342	0.90[AMR][1000 genomes]
rs60730619	0.84[EUR][1000 genomes]
rs61577246	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6715321	0.89[JPT][hapmap]
rs6722617	0.84[JPT][hapmap]
rs6728175	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs717454	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs72954262	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72954283	0.84[EUR][1000 genomes]
rs72954284	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72954287	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72956308	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72956312	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72956317	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72956346	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72956387	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72958366	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72958380	0.89[AMR][1000 genomes]
rs7563462	0.89[JPT][hapmap]
rs7585019	0.89[JPT][hapmap]
rs7593274	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs7597141	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs769105	0.89[JPT][hapmap]
rs896248	0.87[JPT][hapmap]
rs896249	0.89[JPT][hapmap]
rs9941566	1.00[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv1014604	chr2:99980851-100097884	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1006625	chr2:99984550-100096371	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv1014161	chr2:100021040-100063406	Strong transcription Weak transcription Enhancers 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	4 gene(s)	inside rSNPs	diseases
5	nsv962113	chr2:100022168-100317461	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99999400-100056800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:100005200-100049800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr2:100005600-100045400	Strong transcription	Primary T cells from cord blood	blood
4	chr2:100005800-100062600	Strong transcription	Dnd41	blood
5	chr2:100005800-100066000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:100006000-100046400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr2:100006000-100049600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr2:100006000-100050800	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr2:100006000-100051000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr2:100006000-100081200	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr2:100006200-100046400	Strong transcription	Primary B cells from peripheral blood	blood
12	chr2:100006200-100051400	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr2:100006400-100046600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:100009800-100050000	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr2:100020600-100051400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:100020800-100050200	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr2:100021000-100051800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr2:100021200-100050800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr2:100021200-100077800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:100021400-100049200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr2:100021400-100050800	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr2:100022000-100047600	Weak transcription	Stomach Mucosa	stomach
23	chr2:100022000-100050000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:100022000-100054800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:100022200-100059000	Strong transcription	Liver	Liver
26	chr2:100024000-100046600	Strong transcription	Fetal Intestine Large	intestine
27	chr2:100024000-100050000	Strong transcription	HepG2	liver
28	chr2:100024400-100048400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr2:100024400-100051400	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr2:100025800-100049000	Strong transcription	Fetal Thymus	thymus
31	chr2:100026000-100048800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr2:100030800-100047400	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr2:100032600-100078000	Weak transcription	Psoas Muscle	Psoas
34	chr2:100034000-100055200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr2:100034200-100055000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr2:100034200-100088800	Weak transcription	Small Intestine	intestine
37	chr2:100035600-100045600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr2:100035800-100045600	Strong transcription	K562	blood
39	chr2:100036800-100074800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr2:100037400-100049400	Strong transcription	Placenta	Placenta
41	chr2:100038200-100046200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr2:100038200-100055200	Weak transcription	Gastric	stomach
43	chr2:100038200-100063200	Weak transcription	Fetal Intestine Small	intestine
44	chr2:100038200-100073800	Weak transcription	Esophagus	oesophagus
45	chr2:100039400-100049800	Strong transcription	Adipose Nuclei	Adipose
46	chr2:100040000-100047000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr2:100040000-100047600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr2:100040000-100047600	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr2:100040000-100055200	Weak transcription	Colonic Mucosa	Colon
50	chr2:100041000-100045400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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