Variant report

Variant	rs72981743
Chromosome Location	chr1:98386721-98386722
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:224)
CpG islands
(count:122)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:224 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr1:98386282-98387126	SK-N-SH_RA	brain:	n/a	chr1:98386681-98386692 chr1:98386356-98386365 chr1:98386290-98386301 chr1:98386354-98386365 chr1:98386344-98386358
2	IRF1	chr1:98386434-98386765	K562	blood:	n/a	n/a
3	MAX	chr1:98385877-98387202	SK-N-SH	brain:	n/a	n/a
4	MXI1	chr1:98385759-98387405	IMR90	lung:	n/a	n/a
5	POLR2A	chr1:98386319-98386826	A549	lung:	n/a	n/a
6	EGR1	chr1:98386123-98386764	K562	blood:	n/a	chr1:98386353-98386363
7	POLR2A	chr1:98386254-98386734	ECC-1	luminal epithelium:	n/a	n/a
8	MAX	chr1:98385962-98387219	A549	lung:	n/a	n/a
9	E2F4	chr1:98386412-98387082	MCF10A-Er-Src	breast:	n/a	chr1:98386713-98386728
10	POLR2A	chr1:98385244-98387319	MCF10A-Er-Src	breast:	n/a	n/a
11	SIN3AK20	chr1:98385880-98387200	SK-N-SH	brain:	n/a	n/a
12	MAX	chr1:98386072-98386827	ECC-1	luminal epithelium:	n/a	n/a
13	YY1	chr1:98386632-98387083	H1-hESC	embryonic stem cell:	n/a	chr1:98386681-98386692
14	BRCA1	chr1:98385801-98387193	Hela-S3	cervix:	n/a	n/a
15	MAZ	chr1:98385123-98387389	IMR90	lung:	n/a	chr1:98387376-98387386
16	TAF1	chr1:98386305-98386808	HepG2	liver:	n/a	n/a
17	TCF7L2	chr1:98385987-98387224	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr1:98385854-98387130	HUVEC	blood vessel:	n/a	n/a
19	POLR2A	chr1:98385929-98387224	Hela-S3	cervix:	n/a	n/a
20	MYC	chr1:98386372-98386805	K562	blood:	n/a	n/a
21	POLR2A	chr1:98386325-98387030	HUVEC	blood vessel:	n/a	n/a
22	PML	chr1:98386027-98387317	GM12878	blood:	n/a	n/a
23	MAX	chr1:98385975-98386771	SK-N-SH	brain:	n/a	n/a
24	CTCF	chr1:98386533-98386814	GM12878	blood:	n/a	n/a
25	POLR2A	chr1:98386379-98386909	HCT-116	colon:	n/a	n/a
26	SIN3AK20	chr1:98386300-98386749	PANC-1	pancreas:	n/a	n/a
27	RUNX3	chr1:98385994-98387308	GM12878	blood:	n/a	n/a
28	TBP	chr1:98386385-98386887	HepG2	liver:	n/a	n/a
29	MXI1	chr1:98385863-98387170	Hela-S3	cervix:	n/a	n/a
30	MYC	chr1:98386596-98386758	H1-hESC	embryonic stem cell:	n/a	n/a
31	STAT1	chr1:98385837-98387150	GM12878	blood:	n/a	chr1:98387077-98387089
32	SIN3A	chr1:98385888-98387289	H1-hESC	embryonic stem cell:	n/a	chr1:98386298-98386311
33	ZKSCAN1	chr1:98386210-98387129	Hela-S3	cervix:	n/a	n/a
34	SIN3AK20	chr1:98385914-98386786	PFSK-1	brain:	n/a	n/a
35	MXI1	chr1:98386039-98387055	HepG2	liver:	n/a	n/a
36	POLR2A	chr1:98386328-98387128	HepG2	liver:	n/a	n/a
37	TAF1	chr1:98386396-98386808	PFSK-1	brain:	n/a	n/a
38	ZEB1	chr1:98386445-98386961	GM12878	blood:	n/a	n/a
39	POLR2A	chr1:98386242-98387289	U87	brain:	n/a	n/a
40	RAD21	chr1:98385911-98387176	SK-N-SH_RA	brain:	n/a	n/a
41	REST	chr1:98386115-98387309	H1-neurons	neurons:	n/a	chr1:98386344-98386354 chr1:98386676-98386689 chr1:98386298-98386311
42	ARID3A	chr1:98386471-98386854	HepG2	liver:	n/a	n/a
43	CTBP2	chr1:98386118-98387330	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr1:98386024-98387202	Gliobla	brain:	n/a	n/a
45	POLR2A	chr1:98386136-98387291	U87	brain:	n/a	n/a
46	STAT5A	chr1:98386650-98387080	GM12878	blood:	n/a	n/a
47	CREB1	chr1:98386508-98386892	A549	lung:	n/a	n/a
48	HEY1	chr1:98386334-98386868	HepG2	liver:	n/a	chr1:98386351-98386366 chr1:98386685-98386700 chr1:98386680-98386695
49	MYC	chr1:98386405-98386725	MCF10A-Er-Src	breast:	n/a	n/a
50	RUNX3	chr1:98385915-98387256	GM12878	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:98386697-98386747	HepG2	liver:	n/a
2	chr1:98386683-98386733	NH-A	brain:	n/a
3	chr1:98386683-98386733	GM12891	blood:	n/a
4	chr1:98386697-98386747	HAEpiC	amniotic membrane:	n/a
5	chr1:98386697-98386747	HEEpiC	esophagus:	n/a
6	chr1:98386697-98386747	HRE	kidney:	n/a
7	chr1:98386683-98386733	ProgFib	skin:	n/a
8	chr1:98386683-98386733	PFSK-1	brain:	n/a
9	chr1:98386697-98386747	SAEC	small airway:	n/a
10	chr1:98386683-98386733	HL-60	blood:	n/a
11	chr1:98386683-98386733	ECC-1	luminal epithelium:	n/a
12	chr1:98386683-98386733	HEK293	kidney:	embryo
13	chr1:98386683-98386733	AG04449	skin:	fetal
14	chr1:98386697-98386747	AG10803	skin:	n/a
15	chr1:98386683-98386733	PrEC	prostate:	n/a
16	chr1:98386683-98386733	HNPCEpiC	eye:	n/a
17	chr1:98386697-98386747	ProgFib	skin:	n/a
18	chr1:98386697-98386747	MCF-7	breast:	n/a
19	chr1:98386697-98386747	ECC-1	luminal epithelium:	n/a
20	chr1:98386697-98386747	SK-N-SH	brain:	n/a
21	chr1:98386683-98386733	SK-N-SH	brain:	n/a
22	chr1:98386683-98386733	CMK	blood:	n/a
23	chr1:98386697-98386747	H1-hESC	embryonic stem cell:	embryo
24	chr1:98386697-98386747	PANC-1	pancreas:	n/a
25	chr1:98386697-98386747	HCF	heart:	n/a
26	chr1:98386683-98386733	HCF	heart:	n/a
27	chr1:98386683-98386733	MCF-7	breast:	n/a
28	chr1:98386697-98386747	HCM	heart:	n/a
29	chr1:98386697-98386747	SK-N-SH_RA	brain:	n/a
30	chr1:98386697-98386747	Hela-S3	cervix:	n/a
31	chr1:98386697-98386747	CMK	blood:	n/a
32	chr1:98386697-98386747	NHDF-neo	bronchial:	n/a
33	chr1:98386697-98386747	HNPCEpiC	eye:	n/a
34	chr1:98386683-98386733	SK-N-SH_RA	brain:	n/a
35	chr1:98386697-98386747	LNCaP	prostate:	n/a
36	chr1:98386697-98386747	HRCEpiC	kidney:	n/a
37	chr1:98386683-98386733	NB4	blood:	n/a
38	chr1:98386697-98386747	BE2_C	brain:	n/a
39	chr1:98386683-98386733	HRCEpiC	kidney:	n/a
40	chr1:98386697-98386747	AG09319	gingival:	n/a
41	chr1:98386683-98386733	Caco-2	colon:	n/a
42	chr1:98386683-98386733	BJ	skin:	n/a
43	chr1:98386697-98386747	HIPEpiC	eye:	n/a
44	chr1:98386697-98386747	SK-N-MC	brain:	n/a
45	chr1:98386683-98386733	HRPEpiC	eye:	n/a
46	chr1:98386697-98386747	Hepatocyte	liver:	n/a
47	chr1:98386683-98386733	HUVEC	blood vessel:	n/a
48	chr1:98386697-98386747	ovcar-3	ovarian:	n/a
49	chr1:98386697-98386747	GM12878	blood:	n/a
50	chr1:98386683-98386733	AoSMC	blood vessel:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:98386321..98387273-chr3:197518075..197518651,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
DPYD	TF binding region
DPYD	CpG island
ENSG00000186001	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12060207	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6696127	1.00[ASN][1000 genomes]
rs72963714	1.00[ASN][1000 genomes]
rs72963721	1.00[ASN][1000 genomes]
rs72963731	1.00[ASN][1000 genomes]
rs72981753	1.00[ASN][1000 genomes]
rs72981758	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012958	chr1:98081528-98864746	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv871625	chr1:98165091-98564736	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv830725	chr1:98257894-98443497	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv934244	chr1:98260729-98415915	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv871077	chr1:98274132-98541677	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 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	chr1:98384000-98387600	Active TSS	Brain Substantia Nigra	brain
2	chr1:98384000-98387600	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr1:98384200-98386800	Active TSS	HMEC	breast
4	chr1:98384200-98387400	Active TSS	Right Atrium	heart
5	chr1:98384200-98387400	Active TSS	GM12878-XiMat	blood
6	chr1:98384200-98387400	Active TSS	NHLF	lung
7	chr1:98384400-98387600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:98384400-98387600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:98384600-98387200	Active TSS	Psoas Muscle	Psoas
10	chr1:98384600-98387200	Active TSS	HSMMtube	muscle
11	chr1:98384600-98387400	Active TSS	Rectal Smooth Muscle	rectum
12	chr1:98384800-98387000	Active TSS	Fetal Thymus	thymus
13	chr1:98384800-98387200	Active TSS	Aorta	Aorta
14	chr1:98384800-98387200	Active TSS	Colon Smooth Muscle	Colon
15	chr1:98384800-98387200	Active TSS	Left Ventricle	heart
16	chr1:98384800-98387200	Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr1:98384800-98387400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:98384800-98387400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr1:98384800-98387400	Active TSS	Brain Hippocampus Middle	brain
20	chr1:98384800-98387400	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr1:98384800-98387400	Active TSS	Rectal Mucosa Donor 31	rectum
22	chr1:98384800-98387600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:98384800-98387600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:98384800-98387600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr1:98384800-98387600	Active TSS	Stomach Smooth Muscle	stomach
26	chr1:98385000-98387200	Active TSS	Primary T cells fromperipheralblood	blood
27	chr1:98385000-98387200	Active TSS	Primary T helper naive cells from peripheral blood	blood
28	chr1:98385000-98387200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
29	chr1:98385000-98387200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
30	chr1:98385000-98387200	Active TSS	Primary T killer memory cells from peripheral blood	blood
31	chr1:98385000-98387200	Active TSS	Brain Angular Gyrus	brain
32	chr1:98385000-98387200	Active TSS	Brain Cingulate Gyrus	brain
33	chr1:98385000-98387200	Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr1:98385000-98387400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:98385000-98387400	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr1:98385000-98387400	Active TSS	Muscle Satellite Cultured Cells	--
37	chr1:98385000-98387400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:98385000-98387400	Active TSS	Brain Anterior Caudate	brain
39	chr1:98385000-98387400	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr1:98385000-98387400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr1:98385000-98387400	Active TSS	Duodenum Mucosa	Duodenum
42	chr1:98385000-98387400	Active TSS	Fetal Intestine Small	intestine
43	chr1:98385000-98387400	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr1:98385000-98387400	Active TSS	Ovary	ovary
45	chr1:98385000-98387400	Active TSS	Right Ventricle	heart
46	chr1:98385000-98387400	Active TSS	Thymus	Thymus
47	chr1:98385000-98387400	Active TSS	Hela-S3	cervix
48	chr1:98385000-98387400	Active TSS	HSMM	muscle
49	chr1:98385000-98387400	Active TSS	NHDF-Ad	bronchial
50	chr1:98385000-98387600	Active TSS	A549	lung

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