Variant report

Variant	rs41305661
Chromosome Location	chr10:5005860-5005861
allele	G/T
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	chr10:5005326-5005966	A549	lung:	n/a	n/a
2	POLR2A	chr10:5005376-5006247	HepG2	liver:	n/a	n/a
3	POLR2A	chr10:5005205-5005913	U87	brain:	n/a	n/a
4	POLR2A	chr10:5005292-5005913	U87	brain:	n/a	n/a
5	HEY1	chr10:5005466-5006131	HepG2	liver:	n/a	n/a
6	JUND	chr10:5005348-5006109	A549	lung:	n/a	n/a
7	POLR2A	chr10:5005408-5005989	HepG2	liver:	n/a	n/a
8	HEY1	chr10:5005416-5005886	K562	blood:	n/a	n/a
9	TAF1	chr10:5005254-5006312	A549	lung:	n/a	n/a
10	POLR2A	chr10:5005396-5006214	A549	lung:	n/a	n/a
11	HEY1	chr10:5005313-5008731	HepG2	liver:	n/a	n/a
12	FOXA1	chr10:5005314-5005929	HepG2	liver:	n/a	n/a
13	HEY1	chr10:5005421-5005860	K562	blood:	n/a	n/a
14	POLR2A	chr10:5005367-5005945	ProgFib	skin:	n/a	n/a
15	POLR2A	chr10:5005442-5006225	A549	lung:	n/a	n/a
16	POLR2A	chr10:5005359-5005928	K562	blood:	n/a	n/a
17	POLR2A	chr10:5005321-5012094	HepG2	liver:	n/a	n/a
18	USF1	chr10:5005137-5006051	A549	lung:	n/a	n/a
19	JUND	chr10:5005440-5006140	HepG2	liver:	n/a	n/a
20	POLR2A	chr10:5005425-5005864	HepG2	liver:	n/a	n/a
21	POLR2A	chr10:5005381-5006240	A549	lung:	n/a	n/a
22	NR3C1	chr10:5005149-5006155	A549	lung:	n/a	chr10:5005314-5005340 chr10:5005948-5005974 chr10:5005948-5005974 chr10:5005318-5005336 chr10:5005951-5005960 chr10:5005314-5005340
23	ZBTB33	chr10:5005419-5005897	HepG2	liver:	n/a	n/a
24	POLR2A	chr10:5005396-5005926	MCF-7	breast:	n/a	n/a
25	POLR2A	chr10:5005363-5006211	HepG2	liver:	n/a	n/a
26	SP1	chr10:5005056-5006364	A549	lung:	n/a	n/a
27	POLR2A	chr10:5005292-5006132	HepG2	liver:	n/a	n/a
28	POLR2A	chr10:5005438-5006020	A549	lung:	n/a	n/a
29	MYBL2	chr10:5005378-5006056	HepG2	liver:	n/a	n/a
30	SIN3AK20	chr10:5005374-5006301	A549	lung:	n/a	n/a
31	SP1	chr10:5005106-5006374	A549	lung:	n/a	n/a
32	SIN3AK20	chr10:5005437-5005905	HepG2	liver:	n/a	n/a
33	SP1	chr10:5005268-5005905	HepG2	liver:	n/a	n/a
34	FOXA2	chr10:5005293-5006102	A549	lung:	n/a	n/a
35	JUND	chr10:5005483-5005891	A549	lung:	n/a	n/a
36	BCL3	chr10:5005462-5005954	A549	lung:	n/a	n/a
37	MYBL2	chr10:5005240-5005928	HepG2	liver:	n/a	n/a
38	SIN3AK20	chr10:5005377-5006306	A549	lung:	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]
rs11252853	0.88[ASN][1000 genomes]
rs12264914	0.88[ASN][1000 genomes]
rs3925947	0.88[ASN][1000 genomes]
rs7074155	0.87[ASN][1000 genomes]
rs7076886	0.88[ASN][1000 genomes]
rs72769971	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7893456	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7908994	0.88[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:39 , 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	chr10:5005200-5006000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr10:5005200-5006000	Active TSS	HMEC	breast
10	chr10:5005200-5006200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr10:5005200-5006800	Active TSS	Brain Germinal Matrix	brain
12	chr10:5005200-5006800	Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr10:5005200-5007000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr10:5005200-5007000	Active TSS	NHDF-Ad	bronchial
15	chr10:5005200-5007200	Active TSS	Stomach Smooth Muscle	stomach
16	chr10:5005200-5007400	Active TSS	Fetal Brain Female	brain
17	chr10:5005200-5008400	Active TSS	Liver	Liver
18	chr10:5005400-5006400	Active TSS	HepG2	liver
19	chr10:5005600-5006000	Active TSS	Esophagus	oesophagus
20	chr10:5005600-5006000	Active TSS	Fetal Kidney	kidney
21	chr10:5005600-5006000	Active TSS	Fetal Muscle Trunk	muscle
22	chr10:5005600-5006000	Active TSS	Left Ventricle	heart
23	chr10:5005600-5006000	Active TSS	NHEK	skin
24	chr10:5005600-5006200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr10:5005600-5006200	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr10:5005600-5006200	Active TSS	Ovary	ovary
27	chr10:5005600-5006600	Active TSS	K562	blood
28	chr10:5005600-5007000	Active TSS	Fetal Brain Male	brain
29	chr10:5005600-5007400	Active TSS	Brain Anterior Caudate	brain
30	chr10:5005600-5007800	Active TSS	Adipose Nuclei	Adipose
31	chr10:5005600-5008000	Active TSS	Psoas Muscle	Psoas
32	chr10:5005600-5008200	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr10:5005600-5009600	Active TSS	Right Atrium	heart
34	chr10:5005800-5006400	Weak transcription	Osteobl	bone
35	chr10:5005800-5007000	Weak transcription	Fetal Intestine Small	intestine
36	chr10:5005800-5009000	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr10:5005800-5011000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr10:5005800-5027400	Weak transcription	Fetal Stomach	stomach
39	chr10:5005800-5045800	Weak transcription	HSMMtube	muscle

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