Variant report

Variant	rs790943
Chromosome Location	chr13:50637787-50637788
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:50637736..50639789-chr13:50653357..50655544,2	K562	blood:
2	chr13:50628303..50631311-chr13:50635379..50638823,3	K562	blood:
3	chr13:50637584..50641226-chr13:50648962..50651293,3	K562	blood:
4	chr13:50587681..50590217-chr13:50636928..50639656,2	K562	blood:

Variant related genes	Relation type
ENSG00000198553	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11617754	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.83[ASN][1000 genomes]
rs2066549	0.86[CHB][hapmap]
rs2066557	0.86[CHB][hapmap];0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs2066558	0.80[ASN][1000 genomes]
rs2066571	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2066572	0.82[ASN][1000 genomes]
rs2066575	0.86[CHB][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs2066585	0.86[CHB][hapmap]
rs2066591	0.86[CHB][hapmap]
rs2242482	0.86[CHB][hapmap];0.80[ASN][1000 genomes]
rs2472599	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2475837	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2687950	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs2687951	0.86[CHB][hapmap]
rs2740524	0.86[CHB][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs2740544	0.82[CHB][hapmap];0.82[ASN][1000 genomes]
rs2740545	0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs2760914	0.86[CHB][hapmap]
rs2803839	0.86[CHB][hapmap]
rs2812222	0.86[CHB][hapmap]
rs28798976	0.82[EUR][1000 genomes]
rs3116591	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4548769	0.86[CHB][hapmap]
rs4942899	0.86[CHB][hapmap]
rs4942903	0.84[CHB][hapmap]
rs706610	0.82[CHB][hapmap]
rs73489861	0.83[ASN][1000 genomes]
rs73489862	0.83[ASN][1000 genomes]
rs7986337	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs809845	0.82[CHB][hapmap]
rs9535407	0.86[CHB][hapmap];0.87[JPT][hapmap]
rs9562941	0.82[CHB][hapmap]
rs9568348	0.82[CHB][hapmap]
rs9568354	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs9568357	1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap];0.83[ASN][1000 genomes]
rs9568359	0.82[CHB][hapmap]
rs9568366	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9596219	0.86[CHB][hapmap]
rs9596220	0.86[CHB][hapmap]

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	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
4	esv2752608	chr13:50550099-51054499	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1249 gene(s)	inside rSNPs	diseases
5	nsv1054415	chr13:50598121-50650938	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1202 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50578800-50654400	Weak transcription	Esophagus	oesophagus
2	chr13:50586800-50654200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr13:50587000-50645600	Weak transcription	Spleen	Spleen
4	chr13:50588000-50645600	Weak transcription	Ovary	ovary
5	chr13:50589800-50645600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr13:50590200-50653600	Weak transcription	Small Intestine	intestine
7	chr13:50594800-50641000	Weak transcription	Lung	lung
8	chr13:50594800-50643200	Weak transcription	Brain Hippocampus Middle	brain
9	chr13:50594800-50643600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr13:50595000-50654200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr13:50595200-50640000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr13:50595800-50654400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr13:50598200-50641000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr13:50598600-50640000	Weak transcription	Placenta	Placenta
15	chr13:50598600-50650200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr13:50601600-50641000	Weak transcription	Left Ventricle	heart
17	chr13:50608600-50639800	Weak transcription	NHLF	lung
18	chr13:50611800-50646400	Strong transcription	Fetal Thymus	thymus
19	chr13:50612200-50639800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr13:50612400-50639800	Strong transcription	Dnd41	blood
21	chr13:50612400-50643000	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr13:50612600-50639800	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr13:50612600-50644200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr13:50612800-50645400	Weak transcription	HSMMtube	muscle
25	chr13:50614000-50643800	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr13:50615200-50643200	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr13:50616000-50653600	Weak transcription	Fetal Kidney	kidney
28	chr13:50616600-50639800	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr13:50617400-50640400	Weak transcription	Duodenum Mucosa	Duodenum
30	chr13:50617400-50650000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr13:50617400-50654200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr13:50619400-50640200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr13:50621400-50645600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr13:50622600-50653400	Weak transcription	Fetal Brain Male	brain
35	chr13:50622800-50653400	Weak transcription	Rectal Smooth Muscle	rectum
36	chr13:50623400-50639800	Weak transcription	Fetal Heart	heart
37	chr13:50623400-50645600	Weak transcription	Stomach Smooth Muscle	stomach
38	chr13:50624400-50654200	Weak transcription	Pancreas	Pancrea
39	chr13:50625000-50640000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr13:50625200-50639800	Weak transcription	HepG2	liver
41	chr13:50625400-50654200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr13:50625600-50649000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr13:50626400-50639800	Weak transcription	Liver	Liver
44	chr13:50626400-50641000	Weak transcription	Fetal Intestine Small	intestine
45	chr13:50626600-50654000	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr13:50627000-50639800	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr13:50627200-50641000	Weak transcription	Fetal Intestine Large	intestine
48	chr13:50627400-50639600	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr13:50628400-50652400	Weak transcription	Psoas Muscle	Psoas
50	chr13:50629000-50638400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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