Variant report

Variant	rs935283
Chromosome Location	chr10:49814709-49814710
allele	C/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	chr10:49814547-49815483	HUVEC	blood vessel:	n/a	n/a
2	GATA3	chr10:49814143-49815589	SK-N-SH	brain:	n/a	n/a
3	PBX3	chr10:49814699-49815579	SK-N-SH	brain:	n/a	n/a
4	JUND	chr10:49814631-49815543	SK-N-SH	brain:	n/a	chr10:49814925-49814936 chr10:49814926-49814936 chr10:49814925-49814937
5	TCF12	chr10:49814149-49815702	SK-N-SH	brain:	n/a	chr10:49815431-49815441
6	POLR2A	chr10:49812449-49816604	U87	brain:	n/a	n/a
7	TCF12	chr10:49814523-49815597	SK-N-SH	brain:	n/a	chr10:49815431-49815441
8	POLR2A	chr10:49813873-49816034	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr10:49812107-49816612	IMR90	lung:	n/a	n/a
10	TEAD4	chr10:49814584-49815578	SK-N-SH	brain:	n/a	n/a
11	CTCF	chr10:49814680-49814830	BJ	skin:	n/a	n/a
12	FOS	chr10:49814243-49815993	HUVEC	blood vessel:	n/a	chr10:49814925-49814936 chr10:49815975-49815984 chr10:49814398-49814406 chr10:49814926-49814936 chr10:49814925-49814937
13	POLR2A	chr10:49814647-49815564	HUVEC	blood vessel:	n/a	n/a
14	MAFK	chr10:49814309-49815379	IMR90	lung:	n/a	n/a
15	MYC	chr10:49814410-49815275	HUVEC	blood vessel:	n/a	n/a
16	RXRA	chr10:49814619-49815560	SK-N-SH	brain:	n/a	chr10:49815106-49815119 chr10:49815105-49815119 chr10:49815105-49815121 chr10:49815106-49815119 chr10:49815375-49815389
17	POLR2A	chr10:49813724-49816523	HUVEC	blood vessel:	n/a	n/a
18	MYC	chr10:49814202-49815427	NB4	blood:	n/a	n/a
19	MAX	chr10:49814236-49815806	NB4	blood:	n/a	n/a
20	TEAD4	chr10:49814623-49815535	SK-N-SH	brain:	n/a	n/a
21	BHLHE40	chr10:49814656-49814773	K562	blood:	n/a	n/a
22	RCOR1	chr10:49812547-49815931	IMR90	lung:	n/a	n/a
23	ZNF263	chr10:49813989-49814845	HEK293-T-REx	kidney:	n/a	n/a
24	POLR2A	chr10:49811435-49816856	U87	brain:	n/a	n/a
25	CEBPB	chr10:49814650-49815462	IMR90	lung:	n/a	n/a
26	POLR2A	chr10:49803668-49816856	U87	brain:	n/a	n/a
27	EP300	chr10:49814251-49815650	SK-N-SH	brain:	n/a	n/a
28	NFIC	chr10:49814582-49815585	SK-N-SH	brain:	n/a	n/a
29	JUND	chr10:49814597-49815553	SK-N-SH	brain:	n/a	chr10:49814925-49814936 chr10:49814926-49814936 chr10:49814925-49814937
30	MXI1	chr10:49810976-49815928	IMR90	lung:	n/a	chr10:49815432-49815441
31	GATA2	chr10:49814202-49815755	HUVEC	blood vessel:	n/a	n/a
32	MAZ	chr10:49814161-49816724	IMR90	lung:	n/a	n/a
33	GATA3	chr10:49814203-49815646	SK-N-SH	brain:	n/a	n/a
34	POLR2A	chr10:49809760-49816604	U87	brain:	n/a	n/a
35	MAX	chr10:49814604-49815461	SK-N-SH	brain:	n/a	n/a
36	POLR2A	chr10:49812515-49816187	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:49814485..49816162-chr10:49819695..49822517,2	MCF-7	breast:
2	chr10:49807954..49810165-chr10:49813805..49816263,2	K562	blood:
3	chr10:49814646..49816346-chr10:49859751..49862442,2	MCF-7	breast:

Variant related genes	Relation type
ARHGAP22	TF binding region
ENSG00000128805	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10491034	0.97[ASN][1000 genomes]
rs10745280	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10776627	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10776628	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11101394	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11101397	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11101399	0.95[ASN][1000 genomes]
rs11817042	0.93[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3851553	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4838631	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61072239	0.95[ASN][1000 genomes]
rs935284	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv895372	chr10:49576878-49933488	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv540623	chr10:49805087-49819765	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv540624	chr10:49805087-49822634	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49813200-49814800	Weak transcription	Adipose Nuclei	Adipose
2	chr10:49813200-49814800	Weak transcription	Lung	lung
3	chr10:49813400-49814800	Weak transcription	Colonic Mucosa	Colon
4	chr10:49813400-49815000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
5	chr10:49813400-49815400	Weak transcription	Right Atrium	heart
6	chr10:49813400-49816800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr10:49813400-49844200	Weak transcription	Pancreas	Pancrea
8	chr10:49813600-49815000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr10:49813600-49815000	Flanking Active TSS	NH-A	brain
10	chr10:49813600-49815800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr10:49813600-49816200	Enhancers	HSMMtube	muscle
12	chr10:49813600-49816600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr10:49813600-49816600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr10:49813600-49816800	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr10:49813800-49814800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr10:49813800-49814800	Weak transcription	Brain Substantia Nigra	brain
17	chr10:49813800-49815000	Weak transcription	Colon Smooth Muscle	Colon
18	chr10:49813800-49815600	Weak transcription	Brain Anterior Caudate	brain
19	chr10:49813800-49815800	Weak transcription	Brain Angular Gyrus	brain
20	chr10:49813800-49815800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
21	chr10:49813800-49816000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr10:49813800-49816200	Enhancers	Brain Hippocampus Middle	brain
23	chr10:49813800-49816800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr10:49813800-49817400	Enhancers	HMEC	breast
25	chr10:49813800-49819200	Enhancers	NHLF	lung
26	chr10:49813800-49819400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr10:49814000-49814800	Enhancers	Spleen	Spleen
28	chr10:49814000-49816200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr10:49814000-49817400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr10:49814000-49817400	Enhancers	HUVEC	blood vessel
31	chr10:49814000-49817600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr10:49814000-49817600	Enhancers	Osteobl	bone
33	chr10:49814000-49819400	Weak transcription	Brain Cingulate Gyrus	brain
34	chr10:49814000-49820200	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr10:49814200-49814800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr10:49814200-49816000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr10:49814200-49816200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr10:49814200-49816600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr10:49814200-49823400	Enhancers	NHDF-Ad	bronchial
40	chr10:49814400-49815000	Enhancers	HSMM	muscle
41	chr10:49814400-49816000	Enhancers	NHEK	skin
42	chr10:49814400-49816200	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr10:49814600-49814800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
44	chr10:49814600-49814800	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
45	chr10:49814600-49815000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
46	chr10:49814600-49815000	Bivalent Enhancer	Duodenum Mucosa	Duodenum
47	chr10:49814600-49815200	Bivalent Enhancer	Fetal Muscle Leg	muscle
48	chr10:49814600-49815800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr10:49814600-49816000	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr10:49814600-49816000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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