Variant report

Variant	rs72981745
Chromosome Location	chr1:98387035-98387036
allele	A/G
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	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	POLR2A	chr1:98387028-98387163	A549	lung:	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	MAX	chr1:98385962-98387219	A549	lung:	n/a	n/a
6	ELK1	chr1:98386810-98387176	GM12878	blood:	n/a	n/a
7	E2F4	chr1:98386412-98387082	MCF10A-Er-Src	breast:	n/a	chr1:98386713-98386728
8	POLR2A	chr1:98385244-98387319	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr1:98387035-98387144	A549	lung:	n/a	n/a
10	SIN3AK20	chr1:98385880-98387200	SK-N-SH	brain:	n/a	n/a
11	YY1	chr1:98386632-98387083	H1-hESC	embryonic stem cell:	n/a	chr1:98386681-98386692
12	POLR2A	chr1:98386939-98387162	GM12878	blood:	n/a	n/a
13	BRCA1	chr1:98385801-98387193	Hela-S3	cervix:	n/a	n/a
14	MAZ	chr1:98385123-98387389	IMR90	lung:	n/a	chr1:98387376-98387386
15	TCF7L2	chr1:98385987-98387224	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr1:98385854-98387130	HUVEC	blood vessel:	n/a	n/a
17	JUND	chr1:98386840-98387152	K562	blood:	n/a	n/a
18	POLR2A	chr1:98385929-98387224	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr1:98387019-98387146	A549	lung:	n/a	n/a
20	PML	chr1:98386027-98387317	GM12878	blood:	n/a	n/a
21	ELF1	chr1:98386921-98387205	HepG2	liver:	n/a	chr1:98387121-98387134
22	RUNX3	chr1:98385994-98387308	GM12878	blood:	n/a	n/a
23	MXI1	chr1:98385863-98387170	Hela-S3	cervix:	n/a	n/a
24	STAT1	chr1:98385837-98387150	GM12878	blood:	n/a	chr1:98387077-98387089
25	SIN3A	chr1:98385888-98387289	H1-hESC	embryonic stem cell:	n/a	chr1:98386298-98386311
26	ZKSCAN1	chr1:98386210-98387129	Hela-S3	cervix:	n/a	n/a
27	MXI1	chr1:98386039-98387055	HepG2	liver:	n/a	n/a
28	POLR2A	chr1:98386328-98387128	HepG2	liver:	n/a	n/a
29	ELF1	chr1:98386844-98387189	A549	lung:	n/a	chr1:98387121-98387134
30	ELF1	chr1:98386919-98387228	GM12878	blood:	n/a	chr1:98387121-98387134
31	POLR2A	chr1:98386242-98387289	U87	brain:	n/a	n/a
32	RAD21	chr1:98385911-98387176	SK-N-SH_RA	brain:	n/a	n/a
33	REST	chr1:98386115-98387309	H1-neurons	neurons:	n/a	chr1:98386344-98386354 chr1:98386676-98386689 chr1:98386298-98386311
34	CTBP2	chr1:98386118-98387330	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr1:98386024-98387202	Gliobla	brain:	n/a	n/a
36	RCOR1	chr1:98386815-98387140	HepG2	liver:	n/a	n/a
37	POLR2A	chr1:98386136-98387291	U87	brain:	n/a	n/a
38	STAT5A	chr1:98386650-98387080	GM12878	blood:	n/a	n/a
39	USF2	chr1:98386898-98387241	Hela-S3	cervix:	n/a	n/a
40	SPI1	chr1:98386844-98387247	GM12878	blood:	n/a	n/a
41	RUNX3	chr1:98385915-98387256	GM12878	blood:	n/a	n/a
42	MXI1	chr1:98386073-98387147	H1-hESC	embryonic stem cell:	n/a	n/a
43	ELF1	chr1:98386335-98387303	GM12878	blood:	n/a	chr1:98386351-98386363 chr1:98387121-98387134
44	POLR2A	chr1:98386179-98387190	GM12878	blood:	n/a	n/a
45	EGR1	chr1:98386299-98387243	H1-hESC	embryonic stem cell:	n/a	chr1:98387125-98387134 chr1:98386815-98386825 chr1:98386353-98386363 chr1:98387008-98387018
46	POLR2A	chr1:98387034-98387138	GM12878	blood:	n/a	n/a
47	WRNIP1	chr1:98386585-98387182	GM12878	blood:	n/a	n/a
48	ELK1	chr1:98386460-98387135	Hela-S3	cervix:	n/a	n/a
49	TCF7L2	chr1:98386327-98387156	HCT-116	colon:	n/a	n/a
50	POLR2A	chr1:98386939-98387171	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:98386321..98387273-chr3:197518075..197518651,2	Hela-S3	cervix:
2	chr1:98386869..98389236-chr1:98393890..98395524,2	MCF-7	breast:
3	chr1:98386898..98389575-chr1:98395488..98397277,2	K562	blood:

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

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs12074249	1.00[EUR][1000 genomes]
rs1889227	1.00[EUR][1000 genomes]
rs57653088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58243347	1.00[AMR][1000 genomes]
rs58638365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58639633	1.00[AMR][1000 genomes]
rs58893462	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59037638	1.00[AMR][1000 genomes]
rs59356371	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59538909	1.00[AMR][1000 genomes]
rs59954273	1.00[AMR][1000 genomes]
rs60078043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60887083	1.00[AMR][1000 genomes]
rs60911244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61174144	1.00[AMR][1000 genomes]
rs61211497	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61492808	1.00[AMR][1000 genomes]
rs6662081	1.00[AMR][1000 genomes]
rs72963706	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72963734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72963743	1.00[AMR][1000 genomes]
rs72963747	1.00[AMR][1000 genomes]
rs72963772	1.00[AMR][1000 genomes]
rs72967637	1.00[AMR][1000 genomes]
rs72967645	1.00[AMR][1000 genomes]
rs72967661	1.00[AMR][1000 genomes]
rs72969626	1.00[AMR][1000 genomes]
rs72969641	1.00[AMR][1000 genomes]
rs72969655	1.00[AMR][1000 genomes]
rs72969666	1.00[AMR][1000 genomes]
rs72969667	1.00[AMR][1000 genomes]
rs72969669	1.00[AMR][1000 genomes]
rs72969673	1.00[AMR][1000 genomes]
rs72969678	1.00[AMR][1000 genomes]
rs72969696	1.00[AMR][1000 genomes]
rs72969699	1.00[AMR][1000 genomes]
rs72979743	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72979754	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72979756	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72979762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72979773	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72979780	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72979786	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72979788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72981731	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72981733	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72981734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72981735	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72981737	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72981751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72981754	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72981756	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72981760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72981761	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72981763	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72981765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72981766	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72981768	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72981771	1.00[EUR][1000 genomes]
rs72981774	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74106051	1.00[AMR][1000 genomes]
rs74106378	1.00[AMR][1000 genomes]
rs7517110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7553077	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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:124 , 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	chr1:98384200-98387400	Active TSS	Right Atrium	heart
4	chr1:98384200-98387400	Active TSS	GM12878-XiMat	blood
5	chr1:98384200-98387400	Active TSS	NHLF	lung
6	chr1:98384400-98387600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:98384400-98387600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:98384600-98387200	Active TSS	Psoas Muscle	Psoas
9	chr1:98384600-98387200	Active TSS	HSMMtube	muscle
10	chr1:98384600-98387400	Active TSS	Rectal Smooth Muscle	rectum
11	chr1:98384800-98387200	Active TSS	Aorta	Aorta
12	chr1:98384800-98387200	Active TSS	Colon Smooth Muscle	Colon
13	chr1:98384800-98387200	Active TSS	Left Ventricle	heart
14	chr1:98384800-98387200	Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr1:98384800-98387400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:98384800-98387400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr1:98384800-98387400	Active TSS	Brain Hippocampus Middle	brain
18	chr1:98384800-98387400	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr1:98384800-98387400	Active TSS	Rectal Mucosa Donor 31	rectum
20	chr1:98384800-98387600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:98384800-98387600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:98384800-98387600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr1:98384800-98387600	Active TSS	Stomach Smooth Muscle	stomach
24	chr1:98385000-98387200	Active TSS	Primary T cells fromperipheralblood	blood
25	chr1:98385000-98387200	Active TSS	Primary T helper naive cells from peripheral blood	blood
26	chr1:98385000-98387200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
27	chr1:98385000-98387200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
28	chr1:98385000-98387200	Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chr1:98385000-98387200	Active TSS	Brain Angular Gyrus	brain
30	chr1:98385000-98387200	Active TSS	Brain Cingulate Gyrus	brain
31	chr1:98385000-98387200	Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr1:98385000-98387400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr1:98385000-98387400	Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr1:98385000-98387400	Active TSS	Muscle Satellite Cultured Cells	--
35	chr1:98385000-98387400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr1:98385000-98387400	Active TSS	Brain Anterior Caudate	brain
37	chr1:98385000-98387400	Active TSS	Brain Inferior Temporal Lobe	brain
38	chr1:98385000-98387400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr1:98385000-98387400	Active TSS	Duodenum Mucosa	Duodenum
40	chr1:98385000-98387400	Active TSS	Fetal Intestine Small	intestine
41	chr1:98385000-98387400	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr1:98385000-98387400	Active TSS	Ovary	ovary
43	chr1:98385000-98387400	Active TSS	Right Ventricle	heart
44	chr1:98385000-98387400	Active TSS	Thymus	Thymus
45	chr1:98385000-98387400	Active TSS	Hela-S3	cervix
46	chr1:98385000-98387400	Active TSS	HSMM	muscle
47	chr1:98385000-98387400	Active TSS	NHDF-Ad	bronchial
48	chr1:98385000-98387600	Active TSS	A549	lung
49	chr1:98385200-98387200	Flanking Active TSS	Primary B cells from cord blood	blood
50	chr1:98385200-98387200	Active TSS	Primary T killer naive cells fromperipheralblood	blood

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