Variant report

Variant	rs72766552
Chromosome Location	chr1:247095890-247095891
allele	C/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	chr1:247094914-247095999	GM12891	blood:	n/a	n/a
2	HMGN3	chr1:247094363-247096010	K562	blood:	n/a	n/a
3	KAP1	chr1:247095159-247096024	U2OS	brain:	n/a	n/a
4	NRF1	chr1:247094055-247096131	SK-N-SH	brain:	n/a	chr1:247094670-247094679 chr1:247095208-247095219
5	TCF12	chr1:247094850-247095966	A549	lung:	n/a	chr1:247095677-247095684
6	CEBPD	chr1:247094918-247095929	K562	blood:	n/a	n/a
7	SIN3A	chr1:247094150-247096023	H1-hESC	embryonic stem cell:	n/a	chr1:247094835-247094846 chr1:247095200-247095213 chr1:247094889-247094900 chr1:247095903-247095917 chr1:247095125-247095136
8	ZNF143	chr1:247094986-247096028	GM12878	blood:	n/a	chr1:247095012-247095022 chr1:247095518-247095533 chr1:247095511-247095529 chr1:247095515-247095534
9	WRNIP1	chr1:247095086-247095948	GM12878	blood:	n/a	n/a
10	TCF12	chr1:247094780-247095979	ECC-1	luminal epithelium:	n/a	chr1:247095677-247095684
11	MYC	chr1:247094203-247095911	NB4	blood:	n/a	chr1:247094857-247094867
12	MAX	chr1:247094275-247095941	K562	blood:	n/a	chr1:247094857-247094867
13	POLR2A	chr1:247094869-247096021	PFSK-1	brain:	n/a	n/a
14	POLR2A	chr1:247094094-247095950	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr1:247094832-247095893	HUVEC	blood vessel:	n/a	n/a
16	MYC	chr1:247094137-247096159	A549	lung:	n/a	chr1:247094857-247094867
17	ZNF143	chr1:247094979-247096027	H1-hESC	embryonic stem cell:	n/a	chr1:247095012-247095022 chr1:247095518-247095533 chr1:247095511-247095529 chr1:247095515-247095534
18	ZNF263	chr1:247095113-247096118	HEK293-T-REx	kidney:	n/a	chr1:247095268-247095289
19	PML	chr1:247094082-247096030	GM12878	blood:	n/a	n/a
20	POLR2A	chr1:247094272-247095909	HepG2	liver:	n/a	n/a
21	CHD2	chr1:247094377-247095942	GM12878	blood:	n/a	chr1:247095150-247095160 chr1:247094705-247094715 chr1:247095343-247095352
22	ZNF384	chr1:247095048-247095905	K562	blood:	n/a	n/a
23	GTF2F1	chr1:247095100-247095944	Hela-S3	cervix:	n/a	n/a
24	HCFC1	chr1:247094246-247095916	K562	blood:	n/a	n/a
25	GATA2	chr1:247094930-247096035	SH-SY5Y	brain:	n/a	chr1:247096003-247096014
26	ZNF143	chr1:247094953-247096065	Hela-S3	cervix:	n/a	chr1:247095012-247095022 chr1:247095518-247095533 chr1:247095511-247095529 chr1:247095515-247095534
27	RCOR1	chr1:247093962-247096127	K562	blood:	n/a	n/a
28	ZNF143	chr1:247095011-247096072	K562	blood:	n/a	chr1:247095012-247095022 chr1:247095518-247095533 chr1:247095511-247095529 chr1:247095515-247095534
29	JUN	chr1:247093291-247096433	K562	blood:	n/a	chr1:247095286-247095300
30	SRF	chr1:247094878-247095918	ECC-1	luminal epithelium:	n/a	chr1:247095706-247095719 chr1:247095211-247095221
31	POLR2A	chr1:247094780-247096004	PFSK-1	brain:	n/a	n/a
32	HCFC1	chr1:247093501-247096283	Hela-S3	cervix:	n/a	n/a
33	CHD2	chr1:247094851-247096004	H1-hESC	embryonic stem cell:	n/a	chr1:247095150-247095160 chr1:247095343-247095352
34	CHD2	chr1:247094192-247095932	Hela-S3	cervix:	n/a	chr1:247095150-247095160 chr1:247094705-247094715 chr1:247095343-247095352
35	MAX	chr1:247094755-247095931	A549	lung:	n/a	chr1:247094857-247094867
36	TCF7L2	chr1:247095066-247095926	Hela-S3	cervix:	n/a	n/a
37	TBL1XR1	chr1:247094983-247095917	GM12878	blood:	n/a	n/a
38	HA-E2F1	chr1:247094928-247095990	MCF-7	breast:	n/a	chr1:247095211-247095221
39	TBP	chr1:247095068-247095936	Hela-S3	cervix:	n/a	n/a
40	MTA3	chr1:247094795-247095933	GM12878	blood:	n/a	n/a
41	CREB1	chr1:247094808-247095970	K562	blood:	n/a	n/a
42	RELA	chr1:247095016-247096023	GM19099	blood:	n/a	n/a
43	SMARCB1	chr1:247094247-247095938	Hela-S3	cervix:	n/a	n/a
44	MXI1	chr1:247093988-247096172	IMR90	lung:	n/a	n/a
45	E2F4	chr1:247094943-247096376	MCF10A-Er-Src	breast:	n/a	chr1:247095374-247095385 chr1:247095211-247095221 chr1:247096087-247096094
46	SIN3AK20	chr1:247094069-247095966	MCF-7	breast:	n/a	n/a
47	CREB1	chr1:247094784-247095916	HepG2	liver:	n/a	n/a
48	GATA1	chr1:247094838-247096078	PBDE	blood:	n/a	chr1:247096003-247096014
49	MAX	chr1:247094125-247095915	HepG2	liver:	n/a	chr1:247094857-247094867
50	GATA3	chr1:247094780-247095998	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:247095122..247095967-chr11:32913877..32914747,2	Hela-S3	cervix:
2	chr1:247093657..247096650-chr1:247335096..247337981,2	K562	blood:
3	chr1:247095732..247098585-chr1:247108516..247110039,2	K562	blood:
4	chr1:247093791..247096097-chr1:247493835..247497465,5	K562	blood:
5	chr1:247093628..247096678-chr1:247168698..247172076,4	MCF-7	breast:
6	chr1:247092987..247095907-chr22:39713891..39716269,2	K562	blood:
7	chr1:247092146..247096759-chr1:247274350..247278356,6	MCF-7	breast:
8	chr1:247093552..247097819-chr1:247240197..247243590,5	MCF-7	breast:
9	chr1:247095350..247097520-chr1:247156671..247158364,2	K562	blood:
10	chr1:247093881..247096879-chr1:247169993..247171703,3	K562	blood:
11	chr1:247092719..247096472-chr1:247266171..247268660,3	MCF-7	breast:
12	chr1:247094242..247096736-chr1:249153131..249154703,2	K562	blood:

Variant related genes	Relation type
AHCTF1	TF binding region
ENSG00000196418	Chromatin interaction
ENSG00000197472	Chromatin interaction
ENSG00000135747	Chromatin interaction
ENSG00000162714	Chromatin interaction
ENSG00000188295	Chromatin interaction
ENSG00000221953	Chromatin interaction
ENSG00000227237	Chromatin interaction
ENSG00000263764	Chromatin interaction
ENSG00000060749	Chromatin interaction
ENSG00000171163	Chromatin interaction
ENSG00000100316	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11804963	0.83[ASN][1000 genomes]
rs55662705	1.00[AMR][1000 genomes]
rs56032735	1.00[AMR][1000 genomes]
rs61748726	1.00[AMR][1000 genomes]
rs6678220	1.00[AMR][1000 genomes]
rs72766549	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72766565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs72766588	1.00[AMR][1000 genomes]
rs72768323	1.00[AMR][1000 genomes]
rs72768401	1.00[AMR][1000 genomes]
rs72770314	1.00[AMR][1000 genomes]
rs72770316	1.00[AMR][1000 genomes]
rs72770317	1.00[AMR][1000 genomes]
rs7544463	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949571	chr1:246688635-247240863	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1006271	chr1:246832606-247276182	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv535416	chr1:246832606-247276182	Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers 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	52 gene(s)	inside rSNPs	diseases
4	nsv1011346	chr1:246868799-247133898	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer 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	34 gene(s)	inside rSNPs	diseases
5	nsv873424	chr1:246991094-247366380	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS 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	42 gene(s)	inside rSNPs	diseases
6	nsv1005208	chr1:247037441-247597975	Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
7	nsv1000602	chr1:247044627-247226568	Enhancers Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
8	nsv873425	chr1:247069514-247156066	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	nsv873426	chr1:247069514-247162628	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
10	esv3438502	chr1:247093554-247096502	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
11	nsv535417	chr1:247094131-247409000	ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
12	nsv1005639	chr1:247094161-247401380	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
13	nsv535418	chr1:247094161-247401380	Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247093000-247096200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:247093000-247096200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr1:247093000-247096200	Active TSS	GM12878-XiMat	blood
4	chr1:247093400-247096000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:247093400-247096000	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr1:247093400-247096000	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr1:247093400-247096000	Active TSS	Muscle Satellite Cultured Cells	--
8	chr1:247093400-247096000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:247093400-247096000	Active TSS	Brain Germinal Matrix	brain
10	chr1:247093400-247096000	Active TSS	Right Ventricle	heart
11	chr1:247093400-247096000	Active TSS	HSMMtube	muscle
12	chr1:247093400-247096000	Active TSS	NHLF	lung
13	chr1:247093400-247096200	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr1:247093400-247096200	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr1:247093400-247096200	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr1:247093400-247096200	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr1:247093400-247096200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:247093400-247096400	Active TSS	H9 Cell Line	embryonic stem cell
19	chr1:247093600-247096000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr1:247093600-247096000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:247093600-247096000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr1:247093600-247096000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:247093600-247096000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:247093600-247096000	Active TSS	Colonic Mucosa	Colon
25	chr1:247093600-247096000	Active TSS	Esophagus	oesophagus
26	chr1:247093600-247096000	Active TSS	Psoas Muscle	Psoas
27	chr1:247093600-247096000	Active TSS	NHDF-Ad	bronchial
28	chr1:247093600-247096200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:247093800-247096000	Active TSS	H1 Cell Line	embryonic stem cell
30	chr1:247093800-247096000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr1:247093800-247096000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr1:247093800-247096000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:247093800-247096000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr1:247093800-247096000	Active TSS	Fetal Intestine Small	intestine
35	chr1:247093800-247096000	Active TSS	Fetal Kidney	kidney
36	chr1:247093800-247096000	Active TSS	Left Ventricle	heart
37	chr1:247093800-247096000	Active TSS	Pancreas	Pancrea
38	chr1:247093800-247096000	Active TSS	Small Intestine	intestine
39	chr1:247093800-247096200	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr1:247093800-247096200	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr1:247093800-247096200	Active TSS	K562	blood
42	chr1:247093800-247096200	Active TSS	NH-A	brain
43	chr1:247094000-247096000	Active TSS	Brain Anterior Caudate	brain
44	chr1:247094000-247096000	Active TSS	Brain Cingulate Gyrus	brain
45	chr1:247094000-247096000	Active TSS	Fetal Lung	lung
46	chr1:247094000-247096000	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr1:247094000-247096200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:247094000-247096200	Active TSS	Brain Hippocampus Middle	brain
49	chr1:247094000-247096200	Active TSS	Fetal Muscle Trunk	muscle
50	chr1:247094200-247096000	Active TSS	Primary T helper naive cells from peripheral blood	blood

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