Variant report

Variant	rs34043307
Chromosome Location	chr2:64248236-64248237
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:64247077..64249106-chr20:57556171..57557833,2	MCF-7	breast:
2	chr2:64246663..64249169-chr2:64259470..64260972,2	K562	blood:
3	chr2:64246955..64249358-chr2:64255526..64257239,3	K562	blood:
4	chr2:64226896..64229641-chr2:64246459..64249027,4	K562	blood:
5	chr2:64245996..64247858-chr2:64247865..64250150,3	K562	blood:

Variant related genes	Relation type
ENSG00000101158	Chromatin interaction
ENSG00000143952	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10166971	0.82[ASN][1000 genomes]
rs10190776	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12463827	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12466966	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12468093	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12475294	0.89[EUR][1000 genomes]
rs12988017	0.82[EUR][1000 genomes]
rs12990604	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12993544	0.87[EUR][1000 genomes]
rs12996147	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12997303	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12999675	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13005218	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13007342	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13007731	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13009774	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13010817	0.85[EUR][1000 genomes]
rs13014781	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13015703	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13023542	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13025640	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13028805	0.83[EUR][1000 genomes]
rs13034260	0.88[EUR][1000 genomes]
rs1345479	0.88[EUR][1000 genomes]
rs1437455	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1545196	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17555655	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17562312	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17620012	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17701685	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17701709	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17752683	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2002443	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2119133	0.81[ASN][1000 genomes]
rs2287361	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2422110	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2422111	0.84[AMR][1000 genomes]
rs34145077	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34196086	0.82[ASN][1000 genomes]
rs34200806	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34239752	0.82[EUR][1000 genomes]
rs34512058	0.88[EUR][1000 genomes]
rs34683043	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34700615	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35058898	0.82[EUR][1000 genomes]
rs35122209	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35247801	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35521527	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35552326	0.82[EUR][1000 genomes]
rs35648996	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35693031	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35810427	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35939512	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35972278	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35975566	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs36085609	0.81[ASN][1000 genomes]
rs36099158	0.82[EUR][1000 genomes]
rs3815616	0.88[EUR][1000 genomes]
rs3934536	0.87[EUR][1000 genomes]
rs4482470	0.88[EUR][1000 genomes]
rs4485552	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4544421	0.88[EUR][1000 genomes]
rs4599090	0.88[EUR][1000 genomes]
rs4671072	0.85[EUR][1000 genomes]
rs4671537	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4671538	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4671540	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4671541	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs66476638	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66535980	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66595136	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66650505	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66660401	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs66993685	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67366434	0.83[EUR][1000 genomes]
rs6759803	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs67962955	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71422402	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72808231	0.89[EUR][1000 genomes]
rs72808248	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72808254	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72808262	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72808287	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72808296	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs874695	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs893779	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531376	chr2:64094322-64521876	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv2763643	chr2:64219887-64281337	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1013132	chr2:64235175-64631084	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64247000-64250800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:64247200-64248400	Weak transcription	HSMM	muscle
3	chr2:64247200-64248600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr2:64247200-64248600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:64247200-64248800	Weak transcription	Stomach Mucosa	stomach
6	chr2:64247200-64249000	Enhancers	Primary hematopoietic stem cells	blood
7	chr2:64247200-64249000	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr2:64247200-64249000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:64247200-64249000	Enhancers	Fetal Lung	lung
10	chr2:64247200-64249000	Enhancers	NHDF-Ad	bronchial
11	chr2:64247200-64249200	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr2:64247200-64249200	Enhancers	Liver	Liver
13	chr2:64247200-64249400	Enhancers	HUVEC	blood vessel
14	chr2:64247200-64250800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr2:64247200-64250800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr2:64247200-64251000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr2:64247200-64251000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr2:64247200-64251000	Weak transcription	Fetal Thymus	thymus
19	chr2:64247200-64251000	Weak transcription	Pancreas	Pancrea
20	chr2:64247200-64251000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr2:64247200-64254200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr2:64247400-64248600	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr2:64247400-64248600	Weak transcription	Primary B cells from peripheral blood	blood
24	chr2:64247400-64248600	Weak transcription	Primary T cells from cord blood	blood
25	chr2:64247400-64248600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr2:64247400-64248600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr2:64247400-64248600	Weak transcription	Fetal Intestine Large	intestine
28	chr2:64247400-64248600	Weak transcription	NHEK	skin
29	chr2:64247400-64248800	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr2:64247400-64248800	Weak transcription	NH-A	brain
31	chr2:64247400-64249000	Enhancers	K562	blood
32	chr2:64247400-64249200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr2:64247400-64249200	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr2:64247400-64250800	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr2:64247400-64250800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr2:64247400-64250800	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr2:64247400-64250800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr2:64247400-64250800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr2:64247400-64253000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr2:64247400-64253800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr2:64247600-64248600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:64247600-64248800	Weak transcription	Fetal Heart	heart
43	chr2:64247600-64248800	Weak transcription	Rectal Smooth Muscle	rectum
44	chr2:64247600-64248800	Enhancers	A549	lung
45	chr2:64247600-64248800	Weak transcription	NHLF	lung
46	chr2:64247600-64249000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr2:64247600-64249200	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr2:64247600-64250600	Enhancers	HepG2	liver
49	chr2:64247600-64250800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr2:64247600-64251000	Weak transcription	GM12878-XiMat	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links