Variant report

Variant	rs6692317
Chromosome Location	chr1:184335001-184335002
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:184333608..184335911-chr1:184337854..184340394,2	K562	blood:
2	chr1:184316938..184318894-chr1:184333798..184336132,2	MCF-7	breast:
3	chr1:184329867..184332976-chr1:184334432..184336630,3	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10494580	0.94[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10737252	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10752936	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10752937	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10797960	0.89[EUR][1000 genomes]
rs10797961	0.89[EUR][1000 genomes]
rs10911589	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10911590	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10911591	0.94[CHB][hapmap];0.89[ASN][1000 genomes]
rs10911592	0.95[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10911594	0.95[CHB][hapmap]
rs12029316	0.82[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16823101	0.95[CHB][hapmap];0.89[CHD][hapmap];0.87[ASN][1000 genomes]
rs4326589	0.95[CHB][hapmap];0.90[CHD][hapmap];0.87[ASN][1000 genomes]
rs4384189	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4478778	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4512607	0.82[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4631655	0.95[CHB][hapmap];0.87[ASN][1000 genomes]
rs4991700	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4991703	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6424950	0.95[CHB][hapmap];0.90[CHD][hapmap];0.87[ASN][1000 genomes]
rs6659035	0.97[EUR][1000 genomes]
rs6660217	0.95[CHB][hapmap]
rs6678278	0.88[CHB][hapmap]
rs6696270	0.95[CHB][hapmap]
rs732959	0.95[CHB][hapmap]
rs7367466	0.80[CEU][hapmap];0.95[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.89[MEX][hapmap];0.88[TSI][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7415961	0.95[CHB][hapmap];0.90[CHD][hapmap];0.87[ASN][1000 genomes]
rs7542578	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv3821	chr1:184319543-184365236	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184332400-184335800	Weak transcription	Osteobl	bone
2	chr1:184332600-184336000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr1:184332800-184336000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:184332800-184336400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr1:184333200-184336200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr1:184333800-184335800	Weak transcription	Fetal Muscle Leg	muscle
7	chr1:184333800-184336200	Weak transcription	Psoas Muscle	Psoas
8	chr1:184333800-184336800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr1:184334800-184335400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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