Variant report

Variant	rs73487819
Chromosome Location	chr11:62596567-62596568
allele	A/C
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	chr11:62596387-62596895	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:62596557..62612020-chr11:62639561..62665043,131	K562	blood:

Variant related genes	Relation type
ENSG00000256690	TF binding region
STX5	TF binding region
ENSG00000168003	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs2730030	1.00[AMR][1000 genomes]
rs2730033	1.00[AMR][1000 genomes]
rs2956139	1.00[AMR][1000 genomes]
rs481272	1.00[AMR][1000 genomes]
rs482331	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs489275	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs507101	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs560006	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs560603	1.00[AMR][1000 genomes]
rs561385	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs561520	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56226867	1.00[AMR][1000 genomes]
rs564587	1.00[AMR][1000 genomes]
rs577071	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs595108	1.00[AMR][1000 genomes]
rs694678	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73487834	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915636	chr11:62016992-62713565	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1441 gene(s)	inside rSNPs	diseases
2	nsv532283	chr11:62201358-62863475	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1433 gene(s)	inside rSNPs	diseases
3	nsv532284	chr11:62220043-62630253	Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1401 gene(s)	inside rSNPs	diseases
4	nsv497903	chr11:62330308-62608042	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	489 gene(s)	inside rSNPs	diseases
5	nsv897623	chr11:62438819-62603916	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	215 gene(s)	inside rSNPs	diseases
6	nsv508636	chr11:62547114-62644458	Transcr. at gene 5' and 3' Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1195 gene(s)	inside rSNPs	diseases
7	nsv1051308	chr11:62564713-62673136	Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1199 gene(s)	inside rSNPs	diseases
8	nsv541058	chr11:62564713-62673136	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1199 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62580600-62597000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr11:62580600-62597000	Strong transcription	Fetal Intestine Small	intestine
3	chr11:62580600-62597600	Strong transcription	Osteobl	bone
4	chr11:62580600-62598000	Strong transcription	Fetal Muscle Trunk	muscle
5	chr11:62580800-62596600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr11:62580800-62597600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:62581000-62596600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:62581000-62597200	Strong transcription	Fetal Intestine Large	intestine
9	chr11:62581200-62597000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:62581200-62597600	Strong transcription	Fetal Stomach	stomach
11	chr11:62581600-62596600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr11:62581800-62596600	Strong transcription	Fetal Thymus	thymus
13	chr11:62583400-62597000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr11:62585200-62597200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr11:62586000-62596800	Strong transcription	Brain Hippocampus Middle	brain
16	chr11:62586000-62597000	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr11:62586200-62596600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr11:62586200-62596800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr11:62586400-62597800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr11:62586600-62596800	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr11:62587000-62597800	Strong transcription	Lung	lung
22	chr11:62587200-62596800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr11:62588600-62598200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr11:62589800-62597600	Strong transcription	Fetal Lung	lung
25	chr11:62590000-62597800	Strong transcription	NHEK	skin
26	chr11:62590600-62597000	Weak transcription	Psoas Muscle	Psoas
27	chr11:62593000-62597400	Weak transcription	Fetal Brain Male	brain
28	chr11:62593400-62597000	Weak transcription	Stomach Mucosa	stomach
29	chr11:62593400-62597600	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr11:62593400-62597800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:62593400-62598000	Weak transcription	A549	lung
32	chr11:62594400-62596600	Strong transcription	Brain Cingulate Gyrus	brain
33	chr11:62595000-62597000	Weak transcription	Rectal Smooth Muscle	rectum
34	chr11:62595000-62597800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr11:62595200-62596600	Weak transcription	Pancreas	Pancrea
36	chr11:62595200-62596600	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr11:62595200-62597000	Weak transcription	Esophagus	oesophagus
38	chr11:62595200-62597000	Weak transcription	Gastric	stomach
39	chr11:62595200-62597000	Weak transcription	Left Ventricle	heart
40	chr11:62595200-62597200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr11:62595200-62597600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr11:62595200-62597600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr11:62595200-62597600	Weak transcription	Ovary	ovary
44	chr11:62595200-62597600	Weak transcription	Thymus	Thymus
45	chr11:62595200-62597800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr11:62595200-62597800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr11:62595200-62597800	Weak transcription	Right Ventricle	heart
48	chr11:62595200-62598200	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr11:62595200-62598200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr11:62595200-62598200	Weak transcription	HSMMtube	muscle

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