Variant report

Variant	rs10916188
Chromosome Location	chr1:227823303-227823304
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	chr1:227821457..227823471-chr1:227912921..227914771,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1056699	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1060295	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10799430	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10799439	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10916171	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10916191	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10916203	0.83[EUR][1000 genomes]
rs1111046	0.81[EUR][1000 genomes]
rs1155807	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12025942	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12033000	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12033610	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1810680	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1923823	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2104245	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2132368	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2172937	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2236360	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2236361	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4500311	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4653856	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6426468	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6426473	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6660432	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6693054	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6703846	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs730684	0.82[EUR][1000 genomes]
rs7522634	0.81[EUR][1000 genomes]
rs7526184	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7533588	0.82[EUR][1000 genomes]
rs7534403	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7536765	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7539282	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9786978	0.80[EUR][1000 genomes]
rs9969994	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	nsv873246	chr1:227694948-227884465	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1007479	chr1:227695868-227984466	Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	esv3327012	chr1:227741102-227890968	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1010605	chr1:227770415-228332690	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
6	nsv945342	chr1:227819395-227829907	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227770000-227853800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr1:227790400-227834800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:227805800-227823600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:227811800-227830600	ZNF genes & repeats	Liver	Liver
5	chr1:227815200-227828800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:227818600-227830600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
7	chr1:227818600-227834200	ZNF genes & repeats	Fetal Brain Female	brain
8	chr1:227819400-227823800	ZNF genes & repeats	Fetal Muscle Leg	muscle
9	chr1:227819800-227825200	ZNF genes & repeats	Aorta	Aorta
10	chr1:227819800-227837600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:227820000-227823600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
12	chr1:227820000-227823800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
13	chr1:227820000-227823800	ZNF genes & repeats	Fetal Intestine Small	intestine
14	chr1:227820000-227829200	ZNF genes & repeats	Fetal Stomach	stomach
15	chr1:227820200-227830400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
16	chr1:227820200-227831400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
17	chr1:227820400-227824400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr1:227820600-227825200	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
19	chr1:227820600-227861600	ZNF genes & repeats	Adipose Nuclei	Adipose
20	chr1:227820800-227823600	ZNF genes & repeats	Gastric	stomach
21	chr1:227821400-227823400	ZNF genes & repeats	Spleen	Spleen
22	chr1:227821400-227826600	ZNF genes & repeats	Fetal Lung	lung
23	chr1:227821600-227823600	ZNF genes & repeats	Pancreas	Pancrea
24	chr1:227822600-227823400	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr1:227823200-227823600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr1:227823200-227823800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived

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