Variant report

Variant	rs792348
Chromosome Location	chr10:5933767-5933768
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:5933744-5934194	K562	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:5725094..5729377-chr10:5927689..5933777,6	MCF-7	breast:
2	chr10:5932395..5934386-chr10:6130743..6132352,2	K562	blood:
3	chr10:5726920..5728949-chr10:5933520..5936437,2	K562	blood:
4	chr10:5853532..5857435-chr10:5928623..5934190,13	MCF-7	breast:
5	chr10:5931810..5933817-chr10:6018457..6020176,2	MCF-7	breast:
6	chr10:5852595..5861125-chr10:5921136..5936216,31	MCF-7	breast:
7	chr10:5933201..5936012-chr10:6019635..6021875,2	K562	blood:
8	chr10:5853820..5856785-chr10:5927225..5934067,15	K562	blood:
9	chr10:5853439..5857708-chr10:5926443..5936823,24	K562	blood:
10	chr10:5836323..5837944-chr10:5932347..5934576,2	K562	blood:

No data

Variant related genes	Relation type
ANKRD16	TF binding region
FBXO18	TF binding region
ENSG00000134470	Chromatin interaction
ENSG00000057608	Chromatin interaction
ENSG00000272764	Chromatin interaction
ENSG00000108021	Chromatin interaction
ENSG00000134453	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs2669122	0.85[ASN][1000 genomes]
rs2669126	0.81[ASN][1000 genomes]
rs582359	0.85[ASN][1000 genomes]
rs591510	0.84[ASN][1000 genomes]
rs591878	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs593610	0.84[ASN][1000 genomes]
rs595923	0.84[ASN][1000 genomes]
rs603780	0.83[ASN][1000 genomes]
rs607728	0.83[ASN][1000 genomes]
rs610093	0.81[ASN][1000 genomes]
rs621628	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs622758	0.81[ASN][1000 genomes]
rs626344	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs633797	0.81[ASN][1000 genomes]
rs633928	0.84[ASN][1000 genomes]
rs633930	0.81[ASN][1000 genomes]
rs635532	0.81[ASN][1000 genomes]
rs636578	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs649537	0.84[ASN][1000 genomes]
rs664603	0.81[ASN][1000 genomes]
rs668498	0.83[ASN][1000 genomes]
rs670856	0.84[ASN][1000 genomes]
rs680020	0.81[ASN][1000 genomes]
rs685852	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs686854	0.84[ASN][1000 genomes]
rs688388	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34147	chr10:5726821-6105717	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv34061	chr10:5726821-6225187	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	nsv831775	chr10:5804335-6000849	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv825229	chr10:5886905-5967697	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv466724	chr10:5920836-5938544	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
7	nsv549906	chr10:5920836-5938544	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	15 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	chr10:5931800-5934200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr10:5932600-5934400	Flanking Active TSS	Duodenum Mucosa	Duodenum
3	chr10:5933000-5933800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr10:5933000-5934000	Enhancers	Primary hematopoietic stem cells	blood
5	chr10:5933000-5934000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr10:5933000-5934000	Transcr. at gene 5' and 3'	K562	blood
7	chr10:5933000-5934200	Enhancers	Primary B cells from peripheral blood	blood
8	chr10:5933000-5934200	Enhancers	Primary T cells fromperipheralblood	blood
9	chr10:5933000-5934200	Enhancers	Gastric	stomach
10	chr10:5933000-5934400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr10:5933000-5934400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr10:5933000-5934400	Enhancers	Aorta	Aorta
13	chr10:5933000-5935000	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr10:5933000-5935200	Enhancers	Small Intestine	intestine
15	chr10:5933000-5935200	Enhancers	Spleen	Spleen
16	chr10:5933200-5933800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr10:5933200-5933800	Enhancers	Fetal Intestine Small	intestine
18	chr10:5933200-5933800	Enhancers	Fetal Lung	lung
19	chr10:5933200-5933800	Enhancers	Placenta	Placenta
20	chr10:5933200-5934200	Enhancers	Brain Substantia Nigra	brain
21	chr10:5933200-5934400	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr10:5933200-5934400	Enhancers	Liver	Liver
23	chr10:5933200-5934600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr10:5933200-5934600	Enhancers	Brain Germinal Matrix	brain
25	chr10:5933200-5934800	Enhancers	Primary T cells from cord blood	blood
26	chr10:5933200-5934800	Enhancers	Colon Smooth Muscle	Colon
27	chr10:5933200-5935000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr10:5933200-5936000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr10:5933200-5936000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr10:5933200-5936000	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr10:5933200-5936000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr10:5933200-5936000	Weak transcription	Fetal Muscle Trunk	muscle
33	chr10:5933200-5936400	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr10:5933200-5948200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr10:5933200-5949800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr10:5933200-5977000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr10:5933400-5933800	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr10:5933400-5933800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr10:5933400-5933800	Enhancers	Muscle Satellite Cultured Cells	--
40	chr10:5933400-5933800	Enhancers	Brain Cingulate Gyrus	brain
41	chr10:5933400-5933800	Enhancers	Brain Hippocampus Middle	brain
42	chr10:5933400-5933800	Enhancers	Fetal Heart	heart
43	chr10:5933400-5933800	Enhancers	Fetal Intestine Large	intestine
44	chr10:5933400-5933800	Enhancers	Fetal Stomach	stomach
45	chr10:5933400-5933800	Enhancers	Fetal Thymus	thymus
46	chr10:5933400-5933800	Enhancers	Left Ventricle	heart
47	chr10:5933400-5933800	Weak transcription	Pancreas	Pancrea
48	chr10:5933400-5933800	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr10:5933400-5933800	Active TSS	Right Ventricle	heart
50	chr10:5933400-5933800	Enhancers	Hela-S3	cervix

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