Variant report

Variant	rs2904799
Chromosome Location	chr10:5006834-5006835
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	chr10:5006283-5008545	HepG2	liver:	n/a	n/a
2	MBD4	chr10:5006298-5007562	HepG2	liver:	n/a	n/a
3	TEAD4	chr10:5006825-5007368	K562	blood:	n/a	n/a
4	ZBTB33	chr10:5006814-5007498	A549	lung:	n/a	n/a
5	CEBPB	chr10:5006810-5007308	A549	lung:	n/a	n/a
6	PML	chr10:5006814-5007365	K562	blood:	n/a	n/a
7	CEBPB	chr10:5006742-5007289	K562	blood:	n/a	n/a
8	HEY1	chr10:5005313-5008731	HepG2	liver:	n/a	n/a
9	FOSL2	chr10:5006655-5007566	A549	lung:	n/a	n/a
10	POLR2A	chr10:5006528-5008192	A549	lung:	n/a	n/a
11	BCL3	chr10:5006044-5008338	A549	lung:	n/a	n/a
12	POLR2A	chr10:5005321-5012094	HepG2	liver:	n/a	n/a
13	GATA1	chr10:5006544-5007706	K562	blood:	n/a	n/a
14	TEAD4	chr10:5006774-5007424	K562	blood:	n/a	n/a
15	JUN	chr10:5006748-5007498	K562	blood:	n/a	n/a
16	CEBPD	chr10:5006828-5007356	K562	blood:	n/a	n/a
17	HEY1	chr10:5006538-5007522	HepG2	liver:	n/a	n/a
18	POLR2A	chr10:5006471-5008272	HepG2	liver:	n/a	n/a
19	POLR2A	chr10:5006703-5007321	MCF10A-Er-Src	breast:	n/a	n/a
20	TCF12	chr10:5006814-5008262	A549	lung:	n/a	n/a
21	TRIM28	chr10:5006833-5007336	K562	blood:	n/a	n/a
22	POLR2A	chr10:5006595-5006915	HepG2	liver:	n/a	n/a
23	POLR2A	chr10:5006593-5007510	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000238840	TF binding region
AKR1C1	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11252850	0.95[ASN][1000 genomes]
rs2904796	0.81[ASN][1000 genomes]
rs2904797	0.81[ASN][1000 genomes]
rs2904798	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2904800	0.81[ASN][1000 genomes]
rs2961611	0.91[ASN][1000 genomes]
rs2961612	0.91[ASN][1000 genomes]
rs2961613	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894792	chr10:4832920-5498724	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv948794	chr10:4863093-5227382	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv1045155	chr10:4872239-5211318	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1040343	chr10:4872814-5196815	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv540462	chr10:4872814-5196815	Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv869470	chr10:4878904-5203685	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv466713	chr10:4901798-5319679	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv549881	chr10:4901798-5319679	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking 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 lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv534685	chr10:4914018-5853324	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
10	nsv1050246	chr10:4927428-5211318	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv549882	chr10:4943518-5203864	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
12	esv2763913	chr10:4961021-5321407	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
13	nsv894794	chr10:4972761-5121745	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	nsv430122	chr10:4986040-5134511	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
15	nsv825221	chr10:4999349-5046239	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4998200-5023800	Weak transcription	Gastric	stomach
2	chr10:5004200-5008400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr10:5004800-5023800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr10:5005200-5007000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr10:5005200-5007000	Active TSS	NHDF-Ad	bronchial
6	chr10:5005200-5007200	Active TSS	Stomach Smooth Muscle	stomach
7	chr10:5005200-5007400	Active TSS	Fetal Brain Female	brain
8	chr10:5005200-5008400	Active TSS	Liver	Liver
9	chr10:5005600-5007000	Active TSS	Fetal Brain Male	brain
10	chr10:5005600-5007400	Active TSS	Brain Anterior Caudate	brain
11	chr10:5005600-5007800	Active TSS	Adipose Nuclei	Adipose
12	chr10:5005600-5008000	Active TSS	Psoas Muscle	Psoas
13	chr10:5005600-5008200	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr10:5005600-5009600	Active TSS	Right Atrium	heart
15	chr10:5005800-5007000	Weak transcription	Fetal Intestine Small	intestine
16	chr10:5005800-5009000	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr10:5005800-5011000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr10:5005800-5027400	Weak transcription	Fetal Stomach	stomach
19	chr10:5005800-5045800	Weak transcription	HSMMtube	muscle
20	chr10:5006000-5007000	Flanking Active TSS	NHEK	skin
21	chr10:5006000-5007200	Enhancers	Fetal Heart	heart
22	chr10:5006000-5023800	Weak transcription	Esophagus	oesophagus
23	chr10:5006000-5023800	Weak transcription	Left Ventricle	heart
24	chr10:5006000-5024000	Weak transcription	Fetal Muscle Trunk	muscle
25	chr10:5006200-5007400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr10:5006200-5011000	Weak transcription	Ovary	ovary
27	chr10:5006200-5011200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr10:5006400-5007000	Active TSS	Muscle Satellite Cultured Cells	--
29	chr10:5006400-5007000	Active TSS	NHLF	lung
30	chr10:5006400-5007200	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr10:5006400-5007200	Bivalent/Poised TSS	HepG2	liver
32	chr10:5006600-5007200	Active TSS	Aorta	Aorta
33	chr10:5006600-5007200	Active TSS	Brain Cingulate Gyrus	brain
34	chr10:5006600-5007200	Enhancers	Fetal Intestine Large	intestine
35	chr10:5006600-5007400	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr10:5006600-5007400	Active TSS	Right Ventricle	heart
37	chr10:5006600-5007400	Transcr. at gene 5' and 3'	A549	lung
38	chr10:5006600-5007400	Flanking Active TSS	K562	blood
39	chr10:5006800-5007400	Flanking Active TSS	Brain Germinal Matrix	brain
40	chr10:5006800-5007400	Enhancers	Duodenum Mucosa	Duodenum
41	chr10:5006800-5010800	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr10:5006800-5011200	Weak transcription	Osteobl	bone

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