Variant report

Variant	rs1127446
Chromosome Location	chr13:37580139-37580140
allele	C/T
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	chr13:37579801-37580170	HepG2	liver:	n/a	n/a
2	POLR2A	chr13:37572075-37586589	K562	blood:	n/a	n/a
3	POLR2A	chr13:37580001-37580150	K562	blood:	n/a	n/a
4	POLR2A	chr13:37579070-37580251	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr13:37579596-37580145	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr13:37580004-37580345	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
EXOSC8	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs2078022	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2243710	0.91[ASN][1000 genomes]
rs3818380	0.86[ASN][1000 genomes]
rs4943438	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4943439	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4943440	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7336575	0.91[ASN][1000 genomes]
rs7989745	0.94[ASN][1000 genomes]
rs8000946	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9469	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9532003	0.89[ASN][1000 genomes]
rs9547708	0.91[ASN][1000 genomes]
rs9547709	0.89[ASN][1000 genomes]
rs9547711	0.91[ASN][1000 genomes]
rs9547713	0.91[ASN][1000 genomes]
rs9566172	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9576144	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9576145	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9576146	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9576147	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9576149	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9576150	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9576151	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9576156	0.92[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs9603126	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948975	chr13:37281203-38280430	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv522336	chr13:37305641-37584838	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
3	nsv977365	chr13:37576107-37580409	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:37575400-37580600	Weak transcription	Small Intestine	intestine
2	chr13:37575400-37583800	Weak transcription	Spleen	Spleen
3	chr13:37575400-37631200	Weak transcription	Stomach Mucosa	stomach
4	chr13:37575600-37583800	Weak transcription	Esophagus	oesophagus
5	chr13:37575600-37583800	Weak transcription	Gastric	stomach
6	chr13:37575600-37592800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr13:37576000-37580600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr13:37576000-37581000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr13:37576000-37581000	Weak transcription	Psoas Muscle	Psoas
10	chr13:37576000-37582400	Weak transcription	Colonic Mucosa	Colon
11	chr13:37576000-37583800	Weak transcription	Pancreas	Pancrea
12	chr13:37576000-37592600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr13:37576200-37580600	Weak transcription	Fetal Kidney	kidney
14	chr13:37576200-37581400	Weak transcription	Fetal Brain Male	brain
15	chr13:37576200-37606200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr13:37576200-37623800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr13:37576400-37580800	Weak transcription	Brain Angular Gyrus	brain
18	chr13:37576400-37581000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr13:37576400-37581600	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr13:37576400-37582200	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr13:37576400-37582400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr13:37576400-37583800	Weak transcription	Fetal Heart	heart
23	chr13:37576400-37588600	Weak transcription	Hela-S3	cervix
24	chr13:37576400-37595400	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr13:37576400-37607600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr13:37576400-37608600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr13:37576400-37618800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr13:37576400-37623800	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr13:37576600-37582400	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr13:37576600-37586800	Strong transcription	HSMM	muscle
31	chr13:37576600-37587400	Strong transcription	Placenta	Placenta
32	chr13:37576600-37600400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr13:37576600-37608400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr13:37576600-37623000	Strong transcription	Liver	Liver
35	chr13:37576600-37625800	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr13:37576800-37581800	Genic enhancers	Dnd41	blood
37	chr13:37576800-37584400	Strong transcription	NHEK	skin
38	chr13:37576800-37586200	Strong transcription	H1 Cell Line	embryonic stem cell
39	chr13:37576800-37588400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr13:37576800-37600600	Strong transcription	HUVEC	blood vessel
41	chr13:37576800-37603000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr13:37576800-37609000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr13:37576800-37621200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr13:37576800-37623200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr13:37577000-37580800	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr13:37577000-37582000	Strong transcription	A549	lung
47	chr13:37577000-37584200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr13:37577000-37585000	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr13:37577000-37585400	Strong transcription	Fetal Lung	lung
50	chr13:37577000-37585400	Strong transcription	Rectal Mucosa Donor 31	rectum

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