Variant report

Variant	rs73859998
Chromosome Location	chr4:152021631-152021632
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:78)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:78 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:152020241-152022005	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr4:152021568-152022047	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr4:152020201-152022107	GM18951	blood:	n/a	n/a
4	POLR2A	chr4:152020118-152021923	HepG2	liver:	n/a	n/a
5	MYC	chr4:152020232-152021972	K562	blood:	n/a	n/a
6	POLR2A	chr4:152020236-152022114	HUVEC	blood vessel:	n/a	n/a
7	ZMIZ1	chr4:152020173-152021945	K562	blood:	n/a	n/a
8	POLR2A	chr4:152020072-152021871	GM12892	blood:	n/a	n/a
9	POLR2A	chr4:152020085-152022939	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr4:152020280-152022971	HepG2	liver:	n/a	n/a
11	POLR2A	chr4:152019972-152022054	GM12878	blood:	n/a	n/a
12	POLR2A	chr4:152020132-152021823	GM12891	blood:	n/a	n/a
13	POLR2A	chr4:152020295-152021842	MCF-7	breast:	n/a	n/a
14	CHD1	chr4:152020138-152021916	GM12878	blood:	n/a	chr4:152020734-152020744
15	POLR2A	chr4:152021609-152021952	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr4:152019962-152021642	GM12892	blood:	n/a	n/a
17	POLR2A	chr4:152019349-152025502	GM12878	blood:	n/a	n/a
18	POLR2A	chr4:152019346-152021923	GM18505	blood:	n/a	n/a
19	RELA	chr4:152020099-152021975	GM10847	blood:	n/a	n/a
20	PML	chr4:152020216-152021704	K562	blood:	n/a	n/a
21	REST	chr4:152020190-152021747	H1-neurons	neurons:	n/a	chr4:152020666-152020686
22	POLR2A	chr4:152020155-152021938	GM18526	blood:	n/a	n/a
23	POLR2A	chr4:152020159-152022118	U87	brain:	n/a	n/a
24	MYC	chr4:152020150-152021785	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr4:152020214-152021631	K562	blood:	n/a	n/a
26	WRNIP1	chr4:152020159-152021923	GM12878	blood:	n/a	n/a
27	POLR2A	chr4:152020243-152021893	PANC-1	pancreas:	n/a	n/a
28	POLR2A	chr4:152020293-152021937	HepG2	liver:	n/a	n/a
29	POLR2A	chr4:152020008-152022035	GM12892	blood:	n/a	n/a
30	MAX	chr4:152020019-152021669	HCT-116	colon:	n/a	n/a
31	POLR2A	chr4:152020159-152022166	U87	brain:	n/a	n/a
32	HCFC1	chr4:152020155-152021632	Hela-S3	cervix:	n/a	n/a
33	HEY1	chr4:152021580-152021969	K562	blood:	n/a	n/a
34	POLR2A	chr4:152020175-152022417	HepG2	liver:	n/a	n/a
35	POLR2A	chr4:152020251-152022177	SK-N-SH	brain:	n/a	n/a
36	POLR2A	chr4:152020262-152022079	K562	blood:	n/a	n/a
37	POLR2A	chr4:152021590-152022091	HCT-116	colon:	n/a	n/a
38	POLR2A	chr4:152018984-152022925	GM12891	blood:	n/a	n/a
39	POLR2A	chr4:152020276-152022208	ECC-1	luminal epithelium:	n/a	n/a
40	POLR2A	chr4:152020218-152022716	PFSK-1	brain:	n/a	n/a
41	MAZ	chr4:152020077-152021661	IMR90	lung:	n/a	n/a
42	POLR2A	chr4:152020280-152029909	K562	blood:	n/a	n/a
43	SIN3A	chr4:152020200-152021923	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr4:152020293-152022095	K562	blood:	n/a	n/a
45	POLR2A	chr4:152020026-152022471	GM12878	blood:	n/a	n/a
46	POLR2A	chr4:152019403-152022062	GM19099	blood:	n/a	n/a
47	TEAD4	chr4:152020178-152021658	K562	blood:	n/a	n/a
48	POLR2A	chr4:152020099-152021771	HL-60	blood:	n/a	n/a
49	POLR2A	chr4:152020230-152022822	K562	blood:	n/a	n/a
50	POLR2A	chr4:152020083-152022092	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:151932388..151938493-chr4:152018908..152023577,12	K562	blood:
2	chr4:151932388..151938967-chr4:152018772..152026013,16	K562	blood:
3	chr4:152019186..152022865-chr4:152245245..152246932,3	MCF-7	breast:
4	chr4:151935351..151938924-chr4:152018981..152022393,11	MCF-7	breast:
5	chr4:151934961..151939391-chr4:152019005..152023866,18	MCF-7	breast:
6	chr4:152019971..152022516-chr4:152039598..152042483,2	MCF-7	breast:
7	chr4:151920425..151923102-chr4:152021028..152022824,2	K562	blood:
8	chr4:151936353..151937024-chr4:152021373..152021938,2	NB4	blood:

No data

Variant related genes	Relation type
ENSG00000201264	TF binding region
SNORD73A	TF binding region
ENSG00000198589	Chromatin interaction
ENSG00000109686	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10005764	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10016856	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10028324	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11099784	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17027541	1.00[EUR][1000 genomes]
rs28399915	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28401367	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28432996	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28493533	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28566074	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28594255	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28644282	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28658039	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28791569	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28836884	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58001315	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60001201	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60661732	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6812606	1.00[AMR][1000 genomes]
rs6820298	1.00[EUR][1000 genomes]
rs6856037	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72967593	1.00[EUR][1000 genomes]
rs73860000	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7658238	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7659047	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9917939	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9918061	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9991362	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9997354	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034948	chr4:151590115-152202687	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv537302	chr4:151590115-152202687	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv530159	chr4:151624865-152203910	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv1018404	chr4:151664438-152067409	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv1017850	chr4:151664438-152071876	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	esv2763837	chr4:151664438-152071888	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	nsv870257	chr4:151665349-152072867	Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	nsv1015387	chr4:151673751-152071876	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv526976	chr4:151675819-152055073	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
10	nsv1025077	chr4:151682266-152035733	Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
11	nsv537303	chr4:151682266-152035733	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
12	nsv949066	chr4:151693149-152069566	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
13	nsv949002	chr4:151693149-152095109	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
14	nsv948719	chr4:151693149-152161625	Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
15	nsv1031720	chr4:151708502-152071876	Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
16	nsv880262	chr4:151712054-152519899	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
17	nsv1031516	chr4:151718614-152065644	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
18	nsv537304	chr4:151718614-152065644	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
19	nsv1022884	chr4:151718814-152065505	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
20	nsv537305	chr4:151718814-152065505	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
21	nsv595690	chr4:151788955-152109552	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
22	nsv1026416	chr4:151847403-152105879	Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
23	nsv1018797	chr4:151913585-152073419	Flanking Active TSS Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
24	nsv881526	chr4:151968295-152489087	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
25	nsv1016220	chr4:151997139-152164126	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
26	nsv537306	chr4:151997139-152164126	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 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	chr4:152019800-152021800	Active TSS	Rectal Mucosa Donor 31	rectum
2	chr4:152020000-152021800	Active TSS	H9 Cell Line	embryonic stem cell
3	chr4:152020000-152021800	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr4:152020000-152021800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:152020000-152021800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
6	chr4:152020000-152021800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr4:152020000-152021800	Active TSS	Fetal Kidney	kidney
8	chr4:152020000-152021800	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr4:152020000-152021800	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr4:152020000-152021800	Active TSS	Hela-S3	cervix
11	chr4:152020000-152021800	Active TSS	NH-A	brain
12	chr4:152020000-152022000	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr4:152020000-152022600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr4:152020000-152022600	Active TSS	Rectal Smooth Muscle	rectum
15	chr4:152020200-152021800	Active TSS	H1 Cell Line	embryonic stem cell
16	chr4:152020200-152021800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr4:152020200-152021800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr4:152020200-152021800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr4:152020200-152021800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr4:152020200-152021800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr4:152020200-152021800	Active TSS	Aorta	Aorta
22	chr4:152020200-152021800	Active TSS	Brain Angular Gyrus	brain
23	chr4:152020200-152021800	Active TSS	Fetal Stomach	stomach
24	chr4:152020200-152021800	Active TSS	Stomach Mucosa	stomach
25	chr4:152020200-152021800	Active TSS	NHDF-Ad	bronchial
26	chr4:152020200-152021800	Active TSS	NHLF	lung
27	chr4:152020200-152022000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr4:152020200-152022000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr4:152020200-152022000	Active TSS	Esophagus	oesophagus
30	chr4:152020200-152022000	Active TSS	Left Ventricle	heart
31	chr4:152020200-152022000	Active TSS	Ovary	ovary
32	chr4:152020200-152022000	Active TSS	Sigmoid Colon	Sigmoid Colon
33	chr4:152020200-152022200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr4:152020200-152022200	Active TSS	Fetal Heart	heart
35	chr4:152020200-152022200	Active TSS	Fetal Muscle Trunk	muscle
36	chr4:152020200-152022400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr4:152020200-152022600	Active TSS	Colonic Mucosa	Colon
38	chr4:152020200-152022600	Active TSS	Pancreas	Pancrea
39	chr4:152020200-152022600	Active TSS	Psoas Muscle	Psoas
40	chr4:152020200-152022800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr4:152020200-152023000	Active TSS	Right Ventricle	heart
42	chr4:152020200-152023200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr4:152020400-152021800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr4:152020400-152021800	Active TSS	Primary T cells fromperipheralblood	blood
45	chr4:152020400-152021800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
46	chr4:152020400-152021800	Active TSS	Fetal Intestine Large	intestine
47	chr4:152020400-152021800	Active TSS	GM12878-XiMat	blood
48	chr4:152020400-152021800	Active TSS	HMEC	breast
49	chr4:152020400-152022000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr4:152020400-152022000	Active TSS	iPS-15b Cell Line	embryonic stem cell

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