Variant report

Variant	rs1138566
Chromosome Location	chr10:5005651-5005652
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:103)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:103 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:5005326-5005966	A549	lung:	n/a	n/a
2	TBP	chr10:5005410-5005832	HepG2	liver:	n/a	n/a
3	POLR2A	chr10:5005376-5006247	HepG2	liver:	n/a	n/a
4	POLR2A	chr10:5005516-5005712	ECC-1	luminal epithelium:	n/a	n/a
5	TAF1	chr10:5005444-5005816	HepG2	liver:	n/a	n/a
6	POLR2A	chr10:5005205-5005913	U87	brain:	n/a	n/a
7	POLR2A	chr10:5005292-5005913	U87	brain:	n/a	n/a
8	HEY1	chr10:5005466-5006131	HepG2	liver:	n/a	n/a
9	POLR2A	chr10:5005526-5005707	K562	blood:	n/a	n/a
10	FOSL2	chr10:5005317-5005807	HepG2	liver:	n/a	n/a
11	JUND	chr10:5005348-5006109	A549	lung:	n/a	n/a
12	REST	chr10:5005436-5005844	HepG2	liver:	n/a	n/a
13	FOXA2	chr10:5005434-5005803	A549	lung:	n/a	n/a
14	POLR2A	chr10:5005408-5005989	HepG2	liver:	n/a	n/a
15	POLR2A	chr10:5005446-5005828	K562	blood:	n/a	n/a
16	TBP	chr10:5005415-5005807	K562	blood:	n/a	n/a
17	HEY1	chr10:5005416-5005886	K562	blood:	n/a	n/a
18	POLR2A	chr10:5005520-5005709	H1-neurons	neurons:	n/a	n/a
19	POLR2A	chr10:5005515-5005704	K562	blood:	n/a	n/a
20	POLR2A	chr10:5005209-5005853	U87	brain:	n/a	n/a
21	NFYB	chr10:5005408-5005651	K562	blood:	n/a	n/a
22	TAF1	chr10:5005254-5006312	A549	lung:	n/a	n/a
23	GATA2	chr10:5005495-5005796	K562	blood:	n/a	n/a
24	POLR2A	chr10:5005610-5005668	IMR90	lung:	n/a	n/a
25	RCOR1	chr10:5005619-5005791	HepG2	liver:	n/a	n/a
26	POLR2A	chr10:5005396-5006214	A549	lung:	n/a	n/a
27	POLR2A	chr10:5005469-5005686	Hela-S3	cervix:	n/a	n/a
28	CEBPD	chr10:5005515-5005709	HepG2	liver:	n/a	n/a
29	HEY1	chr10:5005313-5008731	HepG2	liver:	n/a	n/a
30	ZMIZ1	chr10:5005629-5005663	K562	blood:	n/a	n/a
31	PML	chr10:5005490-5005717	K562	blood:	n/a	n/a
32	JUND	chr10:5005471-5005752	HepG2	liver:	n/a	n/a
33	CEBPB	chr10:5005230-5005732	K562	blood:	n/a	n/a
34	IRF1	chr10:5005585-5005656	K562	blood:	n/a	n/a
35	POLR2A	chr10:5005537-5005706	K562	blood:	n/a	n/a
36	MBD4	chr10:5005485-5005850	HepG2	liver:	n/a	n/a
37	POLR2A	chr10:5005529-5005727	H1-neurons	neurons:	n/a	n/a
38	FOXA1	chr10:5005314-5005929	HepG2	liver:	n/a	n/a
39	HEY1	chr10:5005421-5005860	K562	blood:	n/a	n/a
40	EP300	chr10:5005481-5005727	HepG2	liver:	n/a	n/a
41	POLR2A	chr10:5005367-5005945	ProgFib	skin:	n/a	n/a
42	SIN3AK20	chr10:5005444-5005851	HepG2	liver:	n/a	n/a
43	TAF1	chr10:5005525-5005703	K562	blood:	n/a	n/a
44	POLR2A	chr10:5005442-5006225	A549	lung:	n/a	n/a
45	POLR2A	chr10:5005359-5005928	K562	blood:	n/a	n/a
46	MAX	chr10:5005499-5005727	A549	lung:	n/a	n/a
47	SMC3	chr10:5005477-5005784	HepG2	liver:	n/a	n/a
48	MAX	chr10:5005500-5005721	K562	blood:	n/a	n/a
49	SPI1	chr10:5005462-5005694	K562	blood:	n/a	n/a
50	POLR2A	chr10:5005443-5005824	HepG2	liver:	n/a	n/a

No data

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

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11252852	0.87[AFR][1000 genomes]
rs12241237	0.85[AFR][1000 genomes]
rs28805383	0.86[AFR][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:40 , 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	chr10:5004600-5006600	Active TSS	A549	lung
4	chr10:5004800-5023800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr10:5005000-5006400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr10:5005000-5006400	Weak transcription	NHLF	lung
7	chr10:5005000-5006600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr10:5005200-5005800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr10:5005200-5005800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr10:5005200-5005800	Active TSS	HSMMtube	muscle
11	chr10:5005200-5005800	Active TSS	Osteobl	bone
12	chr10:5005200-5006000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr10:5005200-5006000	Active TSS	HMEC	breast
14	chr10:5005200-5006200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr10:5005200-5006800	Active TSS	Brain Germinal Matrix	brain
16	chr10:5005200-5006800	Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr10:5005200-5007000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr10:5005200-5007000	Active TSS	NHDF-Ad	bronchial
19	chr10:5005200-5007200	Active TSS	Stomach Smooth Muscle	stomach
20	chr10:5005200-5007400	Active TSS	Fetal Brain Female	brain
21	chr10:5005200-5008400	Active TSS	Liver	Liver
22	chr10:5005400-5005800	Active TSS	Primary neutrophils fromperipheralblood	blood
23	chr10:5005400-5006400	Active TSS	HepG2	liver
24	chr10:5005600-5005800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr10:5005600-5005800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr10:5005600-5006000	Active TSS	Esophagus	oesophagus
27	chr10:5005600-5006000	Active TSS	Fetal Kidney	kidney
28	chr10:5005600-5006000	Active TSS	Fetal Muscle Trunk	muscle
29	chr10:5005600-5006000	Active TSS	Left Ventricle	heart
30	chr10:5005600-5006000	Active TSS	NHEK	skin
31	chr10:5005600-5006200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr10:5005600-5006200	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr10:5005600-5006200	Active TSS	Ovary	ovary
34	chr10:5005600-5006600	Active TSS	K562	blood
35	chr10:5005600-5007000	Active TSS	Fetal Brain Male	brain
36	chr10:5005600-5007400	Active TSS	Brain Anterior Caudate	brain
37	chr10:5005600-5007800	Active TSS	Adipose Nuclei	Adipose
38	chr10:5005600-5008000	Active TSS	Psoas Muscle	Psoas
39	chr10:5005600-5008200	Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr10:5005600-5009600	Active TSS	Right Atrium	heart

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