Variant report

Variant	rs11808852
Chromosome Location	chr1:45236623-45236624
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:45236534-45236679	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:45231631..45238991-chr1:45243171..45249973,8	K562	blood:

Variant related genes	Relation type
RPS8	TF binding region
SNORD55	TF binding region
ENSG00000207421	Chromatin interaction
ENSG00000142937	Chromatin interaction
ENSG00000202031	Chromatin interaction
ENSG00000234093	Chromatin interaction

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

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

rs_ID	r²[population]
rs10127448	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10465818	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11211030	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11211031	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11211034	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11584031	0.90[CHB][hapmap];0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs11801067	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11808189	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12059964	0.85[CEU][hapmap]
rs12094028	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12117881	0.83[ASN][1000 genomes]
rs12136048	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12136099	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12410588	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12742914	0.90[ASN][1000 genomes]
rs16832228	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4542248	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6429548	0.95[CEU][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6656337	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6658470	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6666987	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6671255	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6678729	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6685176	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6688710	0.80[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6698847	0.86[AMR][1000 genomes]
rs7512710	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7518836	0.93[ASN][1000 genomes]
rs7524446	0.95[CEU][hapmap];0.89[EUR][1000 genomes]
rs7525308	0.89[CHB][hapmap];0.89[JPT][hapmap]
rs7536146	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7550170	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7555065	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9988580	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533037	chr1:44361728-45333408	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
2	nsv998476	chr1:45001278-45311757	Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
3	nsv534941	chr1:45001278-45311757	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
4	nsv1014894	chr1:45139123-45397943	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	414 gene(s)	inside rSNPs	diseases
5	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
6	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
7	nsv998871	chr1:45196587-45251179	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	171 gene(s)	inside rSNPs	diseases
8	nsv461406	chr1:45218542-45293518	Strong transcription Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	127 gene(s)	inside rSNPs	diseases
9	nsv546145	chr1:45218542-45293518	Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	127 gene(s)	inside rSNPs	diseases
10	nsv870815	chr1:45233638-45318752	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	127 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45205800-45240600	Weak transcription	Ovary	ovary
2	chr1:45206000-45240400	Weak transcription	Right Atrium	heart
3	chr1:45206200-45240400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr1:45206200-45240600	Weak transcription	Stomach Mucosa	stomach
5	chr1:45206400-45240600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr1:45206600-45240600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:45206800-45240200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:45214400-45240400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr1:45218000-45240600	Weak transcription	Small Intestine	intestine
10	chr1:45219200-45240600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr1:45219200-45240800	Weak transcription	Gastric	stomach
12	chr1:45223800-45240600	Weak transcription	Fetal Heart	heart
13	chr1:45224000-45240400	Weak transcription	Primary B cells from peripheral blood	blood
14	chr1:45224200-45240400	Weak transcription	Lung	lung
15	chr1:45224800-45240400	Weak transcription	HSMMtube	muscle
16	chr1:45225400-45240000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr1:45226600-45240400	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr1:45226800-45240600	Weak transcription	Left Ventricle	heart
19	chr1:45227000-45240200	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr1:45228600-45240000	Weak transcription	Colonic Mucosa	Colon
21	chr1:45228600-45240400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr1:45229200-45240000	Weak transcription	HMEC	breast
23	chr1:45229200-45240400	Weak transcription	Primary T cells from cord blood	blood
24	chr1:45229200-45240400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr1:45229200-45240400	Weak transcription	Brain Germinal Matrix	brain
26	chr1:45229200-45240600	Weak transcription	Fetal Lung	lung
27	chr1:45229400-45240000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:45229400-45240400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:45229400-45240400	Weak transcription	Primary hematopoietic stem cells	blood
30	chr1:45229400-45240400	Weak transcription	HSMM	muscle
31	chr1:45229400-45240400	Weak transcription	NH-A	brain
32	chr1:45231600-45240600	Weak transcription	Brain Angular Gyrus	brain
33	chr1:45232600-45240200	Weak transcription	Primary B cells from cord blood	blood
34	chr1:45232600-45240400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr1:45232800-45240400	Weak transcription	Hela-S3	cervix
36	chr1:45233000-45237200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:45233200-45240200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr1:45233200-45240200	Weak transcription	Spleen	Spleen
39	chr1:45233200-45240400	Weak transcription	GM12878-XiMat	blood
40	chr1:45233200-45240400	Weak transcription	NHEK	skin
41	chr1:45233200-45240600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr1:45233200-45240600	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr1:45233400-45240200	Weak transcription	Fetal Intestine Small	intestine
44	chr1:45233400-45240400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr1:45233400-45240400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr1:45233400-45240400	Weak transcription	Fetal Intestine Large	intestine
47	chr1:45233600-45239600	Weak transcription	K562	blood
48	chr1:45233600-45240200	Weak transcription	Dnd41	blood
49	chr1:45233600-45240400	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr1:45233600-45240400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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