Variant report

Variant	rs6701967
Chromosome Location	chr1:186592245-186592246
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11806329	0.84[AFR][1000 genomes]
rs11806663	0.84[AFR][1000 genomes]
rs11807443	0.84[AFR][1000 genomes]
rs12723621	0.88[YRI][hapmap]
rs12731687	0.84[AFR][1000 genomes]
rs12739643	0.84[AFR][1000 genomes]
rs12753223	0.84[AFR][1000 genomes]
rs16825521	0.91[AFR][1000 genomes]
rs2383383	1.00[ASN][1000 genomes]
rs2383384	0.87[AFR][1000 genomes]
rs34200789	0.81[AFR][1000 genomes]
rs34778311	0.80[AFR][1000 genomes]
rs34783173	0.84[AFR][1000 genomes]
rs35240980	0.84[AFR][1000 genomes]
rs36030781	0.84[AFR][1000 genomes]
rs4140432	1.00[YRI][hapmap]
rs4648292	1.00[YRI][hapmap]
rs5278	0.88[YRI][hapmap]
rs6672847	1.00[ASN][1000 genomes]
rs6674145	1.00[YRI][hapmap]
rs6678793	0.91[AFR][1000 genomes]
rs6683271	0.84[AFR][1000 genomes]
rs6701581	0.91[AFR][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	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv832059	chr1:186464932-186639125	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2762854	chr1:186547101-186847574	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv872590	chr1:186557453-187500338	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186587800-186596200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:186588000-186594800	Weak transcription	Colon Smooth Muscle	Colon
3	chr1:186588200-186595800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr1:186590200-186594800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr1:186590600-186592400	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr1:186591000-186594600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:186591000-186594800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr1:186591000-186594800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:186591200-186594800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr1:186591200-186595200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr1:186591200-186596200	Weak transcription	Osteobl	bone
12	chr1:186591800-186592400	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr1:186591800-186596200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:186592000-186593200	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr1:186592200-186592800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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