Variant report

Variant	rs11805816
Chromosome Location	chr1:246965980-246965981
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:246959485..246962350-chr1:246964445..246966193,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11800375	1.00[EUR][1000 genomes]
rs11806722	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11807103	1.00[EUR][1000 genomes]
rs11807233	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12061420	1.00[EUR][1000 genomes]
rs12088097	1.00[EUR][1000 genomes]
rs12091757	1.00[EUR][1000 genomes]
rs12092189	1.00[EUR][1000 genomes]
rs12096743	1.00[EUR][1000 genomes]
rs12097308	1.00[EUR][1000 genomes]
rs13373878	1.00[AMR][1000 genomes]
rs13375472	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1472276	1.00[EUR][1000 genomes]
rs2067915	1.00[EUR][1000 genomes]
rs3007328	1.00[EUR][1000 genomes]
rs59476689	1.00[EUR][1000 genomes]
rs6659764	1.00[EUR][1000 genomes]
rs6686324	1.00[EUR][1000 genomes]
rs6694181	1.00[EUR][1000 genomes]
rs6696599	1.00[EUR][1000 genomes]
rs73140244	1.00[EUR][1000 genomes]
rs73142251	1.00[EUR][1000 genomes]
rs73142256	1.00[EUR][1000 genomes]
rs73144222	1.00[EUR][1000 genomes]
rs73146692	1.00[EUR][1000 genomes]
rs73148612	1.00[EUR][1000 genomes]
rs7516596	1.00[EUR][1000 genomes]
rs7534805	1.00[EUR][1000 genomes]
rs7535104	1.00[EUR][1000 genomes]
rs7537256	1.00[EUR][1000 genomes]
rs7550911	1.00[EUR][1000 genomes]
rs9729188	1.00[EUR][1000 genomes]
rs9887864	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949571	chr1:246688635-247240863	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv873421	chr1:246818634-247044692	Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS 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	19 gene(s)	inside rSNPs	diseases
3	esv2762192	chr1:246823857-247069232	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1006271	chr1:246832606-247276182	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv535416	chr1:246832606-247276182	Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers 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	52 gene(s)	inside rSNPs	diseases
6	nsv430413	chr1:246845971-246975015	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS 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	16 gene(s)	inside rSNPs	diseases
7	nsv873422	chr1:246854862-247002638	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv1011346	chr1:246868799-247133898	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
9	nsv523531	chr1:246893948-246967899	Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS 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	14 gene(s)	inside rSNPs	diseases
10	nsv999756	chr1:246894542-246969660	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
11	nsv873423	chr1:246923861-246978504	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 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	chr1:246958400-246966800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:246964200-246966000	Enhancers	Duodenum Mucosa	Duodenum
3	chr1:246964200-246966000	Enhancers	Fetal Intestine Large	intestine
4	chr1:246964400-246973000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:246964600-246966200	Enhancers	Fetal Muscle Leg	muscle
6	chr1:246965200-246966200	Enhancers	HepG2	liver
7	chr1:246965400-246966200	Enhancers	Fetal Intestine Small	intestine
8	chr1:246965800-246966000	Enhancers	Placenta	Placenta
9	chr1:246965800-246966000	Enhancers	Right Ventricle	heart

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