Variant report

Variant	rs11807233
Chromosome Location	chr1:246962024-246962025
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:246961516..246963761-chr1:246966339..246968259,2	K562	blood:
2	chr1:246959981..246962716-chr1:246996728..246998857,2	K562	blood:
3	chr1:246951802..246955219-chr1:246959555..246964384,5	K562	blood:
4	chr1:246959485..246962350-chr1:246964445..246966193,2	K562	blood:
5	chr1:246951802..246955947-chr1:246959836..246963718,4	K562	blood:

Variant related genes	Relation type
ENSG00000223519	Chromatin interaction
ENSG00000252011	Chromatin interaction
ENSG00000227953	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11800375	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11805816	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11806722	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11807103	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]
rs4926446	0.82[YRI][hapmap]
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:15 , 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	nsv1006262	chr1:246892826-246964775	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
10	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
11	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
12	nsv1009436	chr1:246910373-246965832	Bivalent/Poised TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
13	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
14	nsv549545	chr1:246936353-246963019	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv525154	chr1:246954166-246963019	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246957200-246962400	Weak transcription	Fetal Brain Male	brain
2	chr1:246957800-246962600	Weak transcription	Fetal Brain Female	brain
3	chr1:246958000-246962400	Weak transcription	Fetal Intestine Small	intestine
4	chr1:246958200-246962200	Weak transcription	Brain Germinal Matrix	brain
5	chr1:246958400-246966800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:246958800-246962400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:246959200-246962200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:246959400-246962200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr1:246959400-246962400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr1:246959400-246962600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr1:246960000-246964800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:246960600-246962400	Enhancers	Placenta	Placenta
13	chr1:246961000-246962600	Enhancers	HSMMtube	muscle
14	chr1:246961000-246963400	Enhancers	Fetal Muscle Leg	muscle
15	chr1:246961600-246962400	Enhancers	HSMM	muscle
16	chr1:246961600-246962600	Flanking Bivalent TSS/Enh	HepG2	liver
17	chr1:246961600-246962800	Enhancers	Left Ventricle	heart
18	chr1:246961600-246962800	Enhancers	Right Ventricle	heart
19	chr1:246961600-246962800	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr1:246961600-246963000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr1:246961800-246962400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:246961800-246962400	Enhancers	Psoas Muscle	Psoas
23	chr1:246961800-246963000	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr1:246962000-246962200	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr1:246962000-246962400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr1:246962000-246962600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr1:246962000-246962800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr1:246962000-246963200	Enhancers	Fetal Heart	heart

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