Variant report

Variant	rs61581672
Chromosome Location	chr11:73584727-73584728
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	chr11:73584446-73585276	PANC-1	pancreas:	n/a	n/a
2	POLR2A	chr11:73584695-73584971	HepG2	liver:	n/a	n/a
3	POLR2A	chr11:73584184-73585133	K562	blood:	n/a	n/a
4	POLR2A	chr11:73583786-73585112	SK-N-MC	brain:	n/a	n/a
5	POLR2A	chr11:73584699-73584899	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr11:73583953-73584863	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:73565085..73567966-chr11:73582133..73584937,2	K562	blood:

Variant related genes	Relation type
PAAF1	TF binding region

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11821823	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11822264	1.00[EUR][1000 genomes]
rs11822794	1.00[EUR][1000 genomes]
rs11823400	1.00[EUR][1000 genomes]
rs11824937	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11825819	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11826017	1.00[EUR][1000 genomes]
rs11827951	1.00[EUR][1000 genomes]
rs11828393	1.00[EUR][1000 genomes]
rs11829005	1.00[EUR][1000 genomes]
rs11829012	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12295455	1.00[EUR][1000 genomes]
rs17132260	1.00[EUR][1000 genomes]
rs17132408	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17132421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17132422	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17132438	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17132488	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17132555	1.00[EUR][1000 genomes]
rs45476292	1.00[EUR][1000 genomes]
rs45570334	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55840703	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55893487	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55939206	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56117405	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56168571	0.87[AMR][1000 genomes]
rs56237750	1.00[EUR][1000 genomes]
rs56340309	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56378817	1.00[EUR][1000 genomes]
rs56723437	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56767203	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57579114	1.00[EUR][1000 genomes]
rs58792356	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59621450	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60093210	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60520592	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60924318	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61085412	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61616797	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61701946	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7110607	1.00[EUR][1000 genomes]
rs73543094	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
3	nsv530641	chr11:73358393-73638725	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv1038105	chr11:73552023-73673836	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv1035977	chr11:73581224-73617653	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73564400-73586000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr11:73571400-73586000	Weak transcription	Right Atrium	heart
3	chr11:73571600-73586200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:73573000-73586200	Weak transcription	Fetal Brain Male	brain
5	chr11:73575400-73586000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr11:73576400-73586000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr11:73578000-73586400	Weak transcription	Fetal Heart	heart
8	chr11:73578800-73586200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr11:73579200-73586400	Weak transcription	Small Intestine	intestine
10	chr11:73579400-73586200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:73579600-73585400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr11:73579600-73585800	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr11:73579600-73585800	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr11:73579600-73586000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr11:73579600-73586000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr11:73579600-73586000	Strong transcription	Fetal Thymus	thymus
17	chr11:73579600-73586200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr11:73579600-73586200	Strong transcription	Fetal Stomach	stomach
19	chr11:73579600-73586200	Strong transcription	Thymus	Thymus
20	chr11:73579800-73585000	Strong transcription	Placenta	Placenta
21	chr11:73579800-73586200	Strong transcription	Primary hematopoietic stem cells	blood
22	chr11:73579800-73586200	Strong transcription	Fetal Lung	lung
23	chr11:73580200-73585000	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr11:73580200-73585200	Strong transcription	Brain Cingulate Gyrus	brain
25	chr11:73580200-73585800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr11:73580200-73586200	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr11:73580200-73586200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr11:73580200-73586600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr11:73580400-73585600	Strong transcription	Dnd41	blood
30	chr11:73580400-73585800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr11:73580400-73586200	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr11:73580400-73586200	Strong transcription	Primary T cells from cord blood	blood
33	chr11:73580400-73586200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr11:73580400-73586200	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr11:73580600-73585000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr11:73580600-73585800	Strong transcription	Primary B cells from peripheral blood	blood
37	chr11:73580800-73586200	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr11:73580800-73586600	Weak transcription	Stomach Mucosa	stomach
39	chr11:73581000-73584800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr11:73581000-73585000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr11:73581200-73585200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr11:73581200-73585800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr11:73581200-73586000	Strong transcription	A549	lung
44	chr11:73581400-73585000	Strong transcription	NHDF-Ad	bronchial
45	chr11:73581400-73585200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr11:73581400-73585600	Strong transcription	Duodenum Mucosa	Duodenum
47	chr11:73581400-73585800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr11:73581400-73586000	Strong transcription	Fetal Intestine Small	intestine
49	chr11:73581400-73586400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr11:73581600-73586000	Strong transcription	Liver	Liver

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