Variant report

Variant	rs41783
Chromosome Location	chr7:116484276-116484277
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:116483450..116485389-chr7:116485888..116488754,2	MCF-7	breast:
2	chr7:116479896..116481731-chr7:116483572..116485585,2	K562	blood:
3	chr7:116473475..116475001-chr7:116483649..116485767,2	K562	blood:
4	chr7:116478959..116481731-chr7:116482441..116485072,4	K562	blood:
5	chr7:116481676..116485243-chr7:116485574..116491618,7	K562	blood:
6	chr7:116483364..116485306-chr7:116489717..116491311,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10215153	0.93[YRI][hapmap]
rs1356	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs193686	0.93[YRI][hapmap]
rs28167	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28896	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41750	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs41754	0.84[EUR][1000 genomes]
rs41758	0.85[EUR][1000 genomes]
rs41770	0.84[EUR][1000 genomes]
rs41773	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41776	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs41778	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41779	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41784	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41786	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41787	0.89[CHB][hapmap];0.91[JPT][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs41789	0.88[CHB][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs41791	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41792	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs41793	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs42338	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs42375	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs438	0.89[CHB][hapmap];0.91[JPT][hapmap];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7803820	0.81[CEU][hapmap]

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	nsv831107	chr7:116414734-116649466	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer 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	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116480600-116485600	Weak transcription	Liver	Liver
2	chr7:116482600-116484400	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr7:116482800-116484400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr7:116483000-116484400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr7:116483000-116484400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:116483200-116484400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
7	chr7:116483400-116484400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr7:116483400-116484600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
9	chr7:116483600-116484400	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr7:116483600-116484800	Active TSS	Osteobl	bone
11	chr7:116483800-116484400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr7:116484000-116484400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr7:116484000-116484400	Flanking Active TSS	NHEK	skin
14	chr7:116484200-116484400	Active TSS	HUVEC	blood vessel
15	chr7:116484200-116484600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
16	chr7:116484200-116484600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
17	chr7:116484200-116484600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:116484200-116484600	Bivalent/Poised TSS	K562	blood
19	chr7:116484200-116484800	Active TSS	Placenta	Placenta

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