Variant report

Variant	rs72788548
Chromosome Location	chr10:19777982-19777983
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:61)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:61 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GTF2F1	chr10:19777803-19778207	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr10:19777880-19778030	HCPEpiC	choroid plexus:	n/a	n/a
3	CTCF	chr10:19777840-19777990	HVMF	connective:	n/a	n/a
4	CTCF	chr10:19777900-19778050	HCM	heart:	n/a	n/a
5	EGR1	chr10:19777740-19778091	H1-hESC	embryonic stem cell:	n/a	n/a
6	MYC	chr10:19777867-19778221	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr10:19777860-19778010	HMF	breast:	n/a	n/a
8	JUND	chr10:19777713-19778180	H1-hESC	embryonic stem cell:	n/a	n/a
9	SP1	chr10:19777814-19778185	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr10:19777840-19777990	AoAF	blood vessel:	n/a	n/a
11	CTCF	chr10:19777920-19778070	AG09319	gingival:	n/a	n/a
12	CTCF	chr10:19777840-19777990	HRE	kidney:	n/a	n/a
13	CHD2	chr10:19777819-19778173	H1-hESC	embryonic stem cell:	n/a	n/a
14	YY1	chr10:19777786-19778220	H1-hESC	embryonic stem cell:	n/a	n/a
15	MAX	chr10:19777656-19778286	H1-hESC	embryonic stem cell:	n/a	n/a
16	RFX5	chr10:19777907-19778284	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr10:19777880-19778030	HRPEpiC	eye:	n/a	n/a
18	CTCF	chr10:19777826-19778050	HepG2	liver:	n/a	n/a
19	TBP	chr10:19777894-19778188	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr10:19777860-19778010	HCM	heart:	n/a	n/a
21	MAX	chr10:19777660-19778270	H1-hESC	embryonic stem cell:	n/a	n/a
22	SP1	chr10:19777684-19778232	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr10:19777900-19778050	HRE	kidney:	n/a	n/a
24	EGR1	chr10:19777665-19778131	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr10:19777840-19777990	HAc	cerebellar:	n/a	n/a
26	MAX	chr10:19777585-19778300	H1-hESC	embryonic stem cell:	n/a	n/a
27	RFX5	chr10:19777933-19778192	HepG2	liver:	n/a	n/a
28	CTCF	chr10:19777900-19778050	HepG2	liver:	n/a	n/a
29	CTCF	chr10:19777817-19778134	IMR90	lung:	n/a	n/a
30	CTCF	chr10:19777766-19778130	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr10:19777880-19778030	NHDF-neo	bronchial:	n/a	n/a
32	CTCF	chr10:19777903-19778017	Kidney_OC	kidney:	n/a	n/a
33	RAD21	chr10:19777781-19778176	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr10:19777860-19778010	HEEpiC	esophagus:	n/a	n/a
35	BACH1	chr10:19777970-19778068	H1-hESC	embryonic stem cell:	n/a	n/a
36	NRF1	chr10:19777844-19778143	H1-hESC	embryonic stem cell:	n/a	n/a
37	RAD21	chr10:19777844-19778067	HepG2	liver:	n/a	n/a
38	MAX	chr10:19777859-19778276	HepG2	liver:	n/a	n/a
39	POLR2A	chr10:19777903-19778206	H1-hESC	embryonic stem cell:	n/a	n/a
40	EP300	chr10:19777811-19778139	H1-hESC	embryonic stem cell:	n/a	n/a
41	TAF7	chr10:19777794-19778187	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr10:19777920-19778070	AG10803	skin:	n/a	n/a
43	CTCF	chr10:19777840-19777990	AG04450	lung:	n/a	n/a
44	ZNF143	chr10:19777799-19778265	H1-hESC	embryonic stem cell:	n/a	n/a
45	TAF1	chr10:19777841-19778237	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr10:19777860-19778010	HBMEC	blood vessel:	n/a	n/a
47	POLR2A	chr10:19777929-19778179	H1-hESC	embryonic stem cell:	n/a	n/a
48	E2F6	chr10:19777318-19778281	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr10:19777924-19777992	GM12892	blood:	n/a	n/a
50	POLR2A	chr10:19777874-19778126	H1-hESC	embryonic stem cell:	n/a	n/a

No data

Variant related genes	Relation type
HMGN1P20	TF binding region
MALRD1	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs28378613	0.83[ASN][1000 genomes]
rs3904903	0.83[ASN][1000 genomes]
rs41497046	0.83[ASN][1000 genomes]
rs7100787	0.83[ASN][1000 genomes]
rs72784352	0.90[EUR][1000 genomes]
rs7920815	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv466764	chr10:19400845-19979434	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv550128	chr10:19400845-19979434	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv2750885	chr10:19407891-19836364	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1043780	chr10:19415575-19827284	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1035870	chr10:19415575-19832047	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv550129	chr10:19417181-19834795	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1035591	chr10:19417883-19823164	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv540506	chr10:19417883-19823164	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	esv2750886	chr10:19432774-19832094	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1047513	chr10:19461947-19810770	Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv540507	chr10:19461947-19810770	Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	esv2759737	chr10:19694144-20024994	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv894930	chr10:19696007-19793195	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	esv2758211	chr10:19714637-20024994	Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	nsv1049295	chr10:19740296-20509036	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
16	nsv1042877	chr10:19749314-20067572	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
17	nsv6010	chr10:19752318-19796695	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	nsv550136	chr10:19768204-19793498	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
19	esv2757373	chr10:19776910-20004996	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
20	esv34306	chr10:19777069-20117944	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
21	nsv947759	chr10:19777703-19779090	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:19740000-19781200	Weak transcription	Duodenum Mucosa	Duodenum
2	chr10:19777200-19778000	Enhancers	Fetal Thymus	thymus
3	chr10:19777200-19778400	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr10:19777400-19778200	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr10:19777400-19778200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr10:19777400-19778400	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr10:19777400-19778400	Active TSS	Thymus	Thymus
8	chr10:19777400-19778600	Active TSS	Primary hematopoietic stem cells	blood
9	chr10:19777400-19778800	Enhancers	H1 Cell Line	embryonic stem cell
10	chr10:19777400-19778800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr10:19777600-19778200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr10:19777600-19778200	Active TSS	Brain Anterior Caudate	brain
13	chr10:19777600-19778200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
14	chr10:19777600-19778200	Active TSS	Fetal Brain Female	brain
15	chr10:19777600-19778200	Active TSS	Fetal Heart	heart
16	chr10:19777600-19778200	Active TSS	Fetal Lung	lung
17	chr10:19777600-19778200	Active TSS	NHLF	lung
18	chr10:19777600-19778200	Active TSS	Osteobl	bone
19	chr10:19777600-19778400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr10:19777600-19778400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr10:19777600-19778400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr10:19777600-19778400	Active TSS	Adipose Nuclei	Adipose
23	chr10:19777600-19778400	Active TSS	Colon Smooth Muscle	Colon
24	chr10:19777600-19778400	Active TSS	Fetal Intestine Large	intestine
25	chr10:19777600-19778400	Active TSS	Fetal Kidney	kidney
26	chr10:19777600-19778400	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr10:19777600-19778400	Active TSS	Monocytes-CD14+_RO01746	blood
28	chr10:19777600-19778600	Active TSS	Aorta	Aorta
29	chr10:19777600-19778600	Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr10:19777600-19778600	Active TSS	Fetal Stomach	stomach
31	chr10:19777600-19778600	Active TSS	Right Atrium	heart
32	chr10:19777600-19778800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr10:19777600-19778800	Active TSS	Brain Hippocampus Middle	brain
34	chr10:19777600-19778800	Active TSS	Ovary	ovary
35	chr10:19777600-19779000	Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr10:19777600-19779200	Active TSS	Stomach Smooth Muscle	stomach
37	chr10:19777800-19778000	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr10:19777800-19778000	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr10:19777800-19778000	Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr10:19777800-19778000	Active TSS	Primary monocytes fromperipheralblood	blood
41	chr10:19777800-19778000	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr10:19777800-19778000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr10:19777800-19778000	Enhancers	Fetal Brain Male	brain
44	chr10:19777800-19778200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr10:19777800-19778200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr10:19777800-19778200	Flanking Active TSS	Liver	Liver
47	chr10:19777800-19778200	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
48	chr10:19777800-19778200	Active TSS	Fetal Muscle Leg	muscle
49	chr10:19777800-19778200	Enhancers	Placenta	Placenta
50	chr10:19777800-19778200	Enhancers	Pancreas	Pancrea

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