Variant report

Variant	rs2943677
Chromosome Location	chr1:85049724-85049725
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:85038375..85040113-chr1:85048931..85050517,2	MCF-7	breast:
2	chr1:85039285..85040851-chr1:85047957..85050303,2	K562	blood:
3	chr1:85038924..85041180-chr1:85047534..85050087,3	K562	blood:
4	chr1:84967877..84970067-chr1:85047454..85049794,2	K562	blood:
5	chr1:84967877..84971482-chr1:85048294..85051877,3	K562	blood:

Variant related genes	Relation type
ENSG00000174021	Chromatin interaction
ENSG00000117151	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs12403545	0.83[ASN][1000 genomes]
rs1246253	0.81[ASN][1000 genomes]
rs1246254	0.81[ASN][1000 genomes]
rs1400777	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1850508	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1850509	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2007454	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2303306	0.95[ASN][1000 genomes]
rs2303307	0.94[ASN][1000 genomes]
rs2911588	0.91[ASN][1000 genomes]
rs2911589	0.95[ASN][1000 genomes]
rs2911590	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2911591	0.96[ASN][1000 genomes]
rs2911592	0.92[ASN][1000 genomes]
rs2911593	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2911595	0.90[EUR][1000 genomes]
rs2911598	0.85[ASN][1000 genomes]
rs2911599	0.85[ASN][1000 genomes]
rs2911603	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2911604	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2911605	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2943663	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2943669	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2943670	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2943675	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2943676	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2943678	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2945140	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2945142	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2945146	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2945148	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2945149	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2945150	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2945152	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2945153	0.94[ASN][1000 genomes]
rs2945155	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2945158	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2945160	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2994937	0.85[ASN][1000 genomes]
rs2994940	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2994943	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2994944	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2994946	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2994947	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2994953	0.91[ASN][1000 genomes]
rs41299545	0.98[ASN][1000 genomes]
rs6692765	0.82[AMR][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	nsv1000325	chr1:85032605-85100748	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85041000-85051600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:85043000-85050800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr1:85044200-85050800	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr1:85048400-85049800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr1:85048400-85050000	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr1:85048400-85050400	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr1:85048400-85050400	Enhancers	Primary B cells from peripheral blood	blood
8	chr1:85048400-85050400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:85048600-85050000	Enhancers	Fetal Brain Male	brain
10	chr1:85048600-85050000	Enhancers	Left Ventricle	heart
11	chr1:85048600-85050200	Enhancers	H1 Cell Line	embryonic stem cell
12	chr1:85048600-85050200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:85048600-85050200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr1:85048600-85050200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:85048600-85050200	Enhancers	GM12878-XiMat	blood
16	chr1:85048600-85050400	Enhancers	Fetal Brain Female	brain
17	chr1:85048800-85050400	Enhancers	Fetal Kidney	kidney
18	chr1:85049000-85049800	Enhancers	NH-A	brain
19	chr1:85049000-85050400	Enhancers	Brain Germinal Matrix	brain
20	chr1:85049200-85049800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr1:85049200-85050000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr1:85049200-85050000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:85049200-85050000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:85049200-85050200	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr1:85049200-85050400	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr1:85049200-85053200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:85049400-85049800	Enhancers	Fetal Intestine Small	intestine
28	chr1:85049400-85050000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr1:85049400-85050000	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
30	chr1:85049400-85050000	Enhancers	Spleen	Spleen
31	chr1:85049600-85049800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr1:85049600-85049800	Flanking Active TSS	HepG2	liver
33	chr1:85049600-85049800	Enhancers	K562	blood
34	chr1:85049600-85050200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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