Variant report

Variant	rs72783205
Chromosome Location	chr10:43633775-43633776
allele	A/C
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	YY1	chr10:43633145-43634070	GM12878	blood:	n/a	chr10:43633628-43633639 chr10:43633628-43633637 chr10:43633935-43633944 chr10:43633589-43633598 chr10:43633932-43633941 chr10:43633623-43633637
2	BCL3	chr10:43633715-43634073	GM12878	blood:	n/a	chr10:43633933-43633942 chr10:43633881-43633890
3	GABPA	chr10:43633711-43634012	GM12878	blood:	n/a	n/a
4	ZNF263	chr10:43633091-43634745	HEK293-T-REx	kidney:	n/a	n/a
5	POLR2A	chr10:43632606-43634349	MCF-7	breast:	n/a	n/a
6	POLR2A	chr10:43633535-43634144	U87	brain:	n/a	n/a
7	MAZ	chr10:43632957-43634841	IMR90	lung:	n/a	n/a
8	MAX	chr10:43632952-43634463	A549	lung:	n/a	n/a
9	MAX	chr10:43633060-43634074	A549	lung:	n/a	n/a
10	POLR2A	chr10:43633440-43634432	GM12878	blood:	n/a	n/a
11	ELK4	chr10:43633650-43634141	HEK293	kidney:	n/a	chr10:43633880-43633891 chr10:43633881-43633890
12	ELK1	chr10:43633603-43634063	K562	blood:	n/a	chr10:43633881-43633890 chr10:43633881-43633890
13	TAF1	chr10:43633589-43634131	ECC-1	luminal epithelium:	n/a	n/a
14	CTBP2	chr10:43633047-43634578	H1-hESC	embryonic stem cell:	n/a	n/a
15	MYC	chr10:43633668-43634096	MCF10A-Er-Src	breast:	n/a	n/a
16	TBP	chr10:43633414-43634183	GM12878	blood:	n/a	n/a
17	CREB1	chr10:43633052-43634165	HepG2	liver:	n/a	n/a
18	POLR2A	chr10:43633218-43634781	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr10:43633645-43634039	HepG2	liver:	n/a	n/a
20	ETS1	chr10:43633523-43634137	K562	blood:	n/a	chr10:43633874-43633890 chr10:43633881-43633890 chr10:43633879-43633888 chr10:43633930-43633941 chr10:43633878-43633891 chr10:43633881-43633890 chr10:43633882-43633892 chr10:43633881-43633890 chr10:43633881-43633890 chr10:43633881-43633890 chr10:43633881-43633892
21	TAF1	chr10:43633758-43634072	GM12891	blood:	n/a	n/a
22	UBTF	chr10:43633282-43634588	K562	blood:	n/a	n/a
23	CHD2	chr10:43633712-43633777	K562	blood:	n/a	n/a
24	NRF1	chr10:43633510-43634154	GM12878	blood:	n/a	n/a
25	POLR2A	chr10:43633139-43634242	GM12878	blood:	n/a	n/a
26	POLR2A	chr10:43632951-43634291	MCF-7	breast:	n/a	n/a
27	YY1	chr10:43632919-43634147	SK-N-SH_RA	brain:	n/a	chr10:43633628-43633639 chr10:43633040-43633054 chr10:43633628-43633637 chr10:43633935-43633944 chr10:43633589-43633598 chr10:43633932-43633941 chr10:43633623-43633637
28	SIN3A	chr10:43632962-43634559	H1-hESC	embryonic stem cell:	n/a	chr10:43634346-43634357 chr10:43633042-43633051 chr10:43633177-43633188
29	REST	chr10:43633504-43634017	PFSK-1	brain:	n/a	chr10:43633670-43633679 chr10:43633672-43633679 chr10:43633984-43633997
30	POLR2A	chr10:43633101-43634321	HUVEC	blood vessel:	n/a	n/a
31	POLR2A	chr10:43633597-43634167	NB4	blood:	n/a	n/a
32	ETS1	chr10:43633636-43634235	GM12878	blood:	n/a	chr10:43633874-43633890 chr10:43633881-43633890 chr10:43633879-43633888 chr10:43633930-43633941 chr10:43633878-43633891 chr10:43633881-43633890 chr10:43633882-43633892 chr10:43633881-43633890 chr10:43633881-43633890 chr10:43633881-43633890 chr10:43633881-43633892
33	REST	chr10:43632910-43634056	U87	brain:	n/a	chr10:43633670-43633679 chr10:43633672-43633679 chr10:43632957-43632970 chr10:43633984-43633997
34	POLR2A	chr10:43633749-43633999	H1-hESC	embryonic stem cell:	n/a	n/a
35	ELF1	chr10:43633527-43634201	GM12878	blood:	n/a	chr10:43633927-43633939 chr10:43633932-43633941 chr10:43633933-43633945 chr10:43633877-43633890
36	SRF	chr10:43633730-43633992	K562	blood:	n/a	n/a
37	TAF1	chr10:43633559-43634147	HepG2	liver:	n/a	n/a
38	RCOR1	chr10:43633163-43634720	K562	blood:	n/a	n/a
39	POLR2A	chr10:43633174-43634586	GM15510	blood:	n/a	n/a
40	MAX	chr10:43633147-43634180	MCF-7	breast:	n/a	n/a
41	PAX5	chr10:43633745-43634163	GM12878	blood:	n/a	n/a
42	MYC	chr10:43633618-43634125	MCF-7	breast:	n/a	n/a
43	ZC3H11A	chr10:43633489-43633870	K562	blood:	n/a	n/a
44	POLR2A	chr10:43633145-43634231	GM12878	blood:	n/a	n/a
45	CREB1	chr10:43633079-43634221	A549	lung:	n/a	n/a
46	FOS	chr10:43633746-43633957	MCF10A-Er-Src	breast:	n/a	n/a
47	E2F4	chr10:43633660-43634106	K562	blood:	n/a	chr10:43633933-43633943 chr10:43633935-43633944
48	ETS1	chr10:43633468-43634253	K562	blood:	n/a	chr10:43633874-43633890 chr10:43633881-43633890 chr10:43633879-43633888 chr10:43633930-43633941 chr10:43633878-43633891 chr10:43633881-43633890 chr10:43633882-43633892 chr10:43633881-43633890 chr10:43633881-43633890 chr10:43633881-43633890 chr10:43633881-43633892
49	MAX	chr10:43633695-43633977	A549	lung:	n/a	n/a
50	RELA	chr10:43633350-43634658	GM18951	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:43632409..43636039-chr10:43698014..43700588,4	K562	blood:
2	chr10:43633206..43635379-chr10:43761035..43762686,2	MCF-7	breast:
3	chr10:43632694..43635237-chr10:43697053..43700182,3	MCF-7	breast:
4	chr10:43632409..43636039-chr10:43698014..43700588,6	K562	blood:
5	chr10:43633619..43635410-chr10:43761017..43763266,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RASGEF1A-2	chr10:43632272-43633782	ENSG00000273008.1

Variant related genes	Relation type
CSGALNACT2	TF binding region
ENSG00000198915	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2506012	1.00[ASN][1000 genomes]
rs2506027	1.00[ASN][1000 genomes]
rs2506037	1.00[ASN][1000 genomes]
rs3026762	1.00[AFR][1000 genomes]
rs72783258	1.00[ASN][1000 genomes]
rs746995	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534548	chr10:42890664-43729688	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv430159	chr10:43291894-43946294	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv1038102	chr10:43441601-43642908	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv895082	chr10:43530071-43755506	Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv895083	chr10:43549708-43765485	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv1051701	chr10:43555542-43642895	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv1046892	chr10:43609488-43636278	Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
8	nsv916378	chr10:43622151-43868356	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	nsv1042310	chr10:43623060-43688505	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
10	nsv1043661	chr10:43626619-43890162	Bivalent Enhancer Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
11	nsv540574	chr10:43626619-43890162	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43632000-43634800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr10:43632000-43635200	Active TSS	HSMM	muscle
3	chr10:43632200-43635000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr10:43632200-43635600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr10:43632200-43635600	Active TSS	HSMMtube	muscle
6	chr10:43632400-43635000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr10:43632400-43635000	Active TSS	NHDF-Ad	bronchial
8	chr10:43632600-43633800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr10:43632600-43633800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr10:43632600-43633800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr10:43632600-43634800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr10:43632600-43634800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr10:43632600-43634800	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr10:43632600-43634800	Active TSS	Ovary	ovary
15	chr10:43632600-43634800	Active TSS	NHEK	skin
16	chr10:43632600-43635000	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr10:43632600-43635000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr10:43632600-43635000	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr10:43632600-43635000	Active TSS	Fetal Kidney	kidney
20	chr10:43632600-43635000	Active TSS	Psoas Muscle	Psoas
21	chr10:43632600-43635000	Active TSS	NH-A	brain
22	chr10:43632600-43635200	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr10:43632600-43635200	Active TSS	Brain Angular Gyrus	brain
24	chr10:43632600-43635400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr10:43632600-43635400	Active TSS	Right Atrium	heart
26	chr10:43632600-43635600	Active TSS	Rectal Smooth Muscle	rectum
27	chr10:43632600-43635600	Active TSS	NHLF	lung
28	chr10:43632600-43636200	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr10:43632800-43633800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr10:43632800-43634400	Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr10:43632800-43634400	Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr10:43632800-43634400	Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr10:43632800-43634600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr10:43632800-43634600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr10:43632800-43634600	Active TSS	Colon Smooth Muscle	Colon
36	chr10:43632800-43634600	Active TSS	Fetal Intestine Large	intestine
37	chr10:43632800-43634600	Active TSS	Fetal Intestine Small	intestine
38	chr10:43632800-43634600	Active TSS	Placenta Amnion	Placenta Amnion
39	chr10:43632800-43634800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr10:43632800-43634800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr10:43632800-43634800	Active TSS	H9 Cell Line	embryonic stem cell
42	chr10:43632800-43634800	Active TSS	Brain Inferior Temporal Lobe	brain
43	chr10:43632800-43634800	Active TSS	Lung	lung
44	chr10:43632800-43634800	Active TSS	Osteobl	bone
45	chr10:43632800-43635000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
46	chr10:43632800-43635000	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr10:43632800-43635000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr10:43632800-43635000	Active TSS	Brain Anterior Caudate	brain
49	chr10:43632800-43635000	Active TSS	Brain Hippocampus Middle	brain
50	chr10:43632800-43635000	Active TSS	Fetal Brain Female	brain

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