Variant report

Variant	rs4621790
Chromosome Location	chr8:125462425-125462426
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	SRF	chr8:125462387-125462660	GM12878	blood:	n/a	chr8:125462500-125462518
2	ELK1	chr8:125462393-125463256	Hela-S3	cervix:	n/a	n/a
3	YY1	chr8:125462379-125463491	K562	blood:	n/a	chr8:125462971-125462981 chr8:125462970-125462978 chr8:125462972-125462980 chr8:125462959-125462981
4	SRF	chr8:125462374-125462684	GM12878	blood:	n/a	chr8:125462500-125462518
5	CTCF	chr8:125462300-125462450	GM12872	blood:	n/a	n/a
6	ETS1	chr8:125462425-125463390	A549	lung:	n/a	n/a
7	CTCF	chr8:125462389-125463102	GM12878	blood:	n/a	n/a
8	YY1	chr8:125462391-125463264	GM12878	blood:	n/a	chr8:125462971-125462981 chr8:125462970-125462978 chr8:125462972-125462980 chr8:125462959-125462981
9	SIN3AK20	chr8:125462372-125463335	SK-N-SH	brain:	n/a	n/a
10	SRF	chr8:125462386-125462733	K562	blood:	n/a	chr8:125462500-125462518
11	YY1	chr8:125462315-125463231	K562	blood:	n/a	chr8:125462971-125462981 chr8:125462970-125462978 chr8:125462972-125462980 chr8:125462959-125462981
12	SIN3A	chr8:125462403-125463246	GM12878	blood:	n/a	n/a
13	CBX3	chr8:125462413-125463498	K562	blood:	n/a	n/a
14	MXI1	chr8:125461952-125464799	SK-N-SH	brain:	n/a	chr8:125462986-125463001
15	SRF	chr8:125462358-125462748	H1-hESC	embryonic stem cell:	n/a	chr8:125462500-125462518
16	MAX	chr8:125462404-125463291	K562	blood:	n/a	n/a
17	HCFC1	chr8:125461831-125464659	Hela-S3	cervix:	n/a	n/a
18	YY1	chr8:125462391-125463160	HepG2	liver:	n/a	chr8:125462971-125462981 chr8:125462970-125462978 chr8:125462972-125462980 chr8:125462959-125462981
19	YY1	chr8:125462288-125463813	K562	blood:	n/a	chr8:125462971-125462981 chr8:125462970-125462978 chr8:125462972-125462980 chr8:125462959-125462981
20	MAX	chr8:125462397-125463627	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr8:125462421-125463317	PANC-1	pancreas:	n/a	n/a
22	ELK1	chr8:125462385-125463312	GM12878	blood:	n/a	n/a
23	POLR2A	chr8:125462377-125463374	PFSK-1	brain:	n/a	n/a
24	YY1	chr8:125462387-125463374	GM12891	blood:	n/a	chr8:125462971-125462981 chr8:125462970-125462978 chr8:125462972-125462980 chr8:125462959-125462981
25	YY1	chr8:125462297-125463340	SK-N-SH_RA	brain:	n/a	chr8:125462971-125462981 chr8:125462970-125462978 chr8:125462972-125462980 chr8:125462959-125462981
26	HCFC1	chr8:125462395-125463535	K562	blood:	n/a	n/a
27	POLR2A	chr8:125462390-125463417	U87	brain:	n/a	n/a
28	SIN3A	chr8:125462406-125463867	H1-hESC	embryonic stem cell:	n/a	n/a
29	YY1	chr8:125462383-125463389	A549	lung:	n/a	chr8:125462971-125462981 chr8:125462970-125462978 chr8:125462972-125462980 chr8:125462959-125462981
30	POLR2A	chr8:125462388-125463588	PFSK-1	brain:	n/a	n/a
31	YY1	chr8:125462359-125463457	GM12891	blood:	n/a	chr8:125462971-125462981 chr8:125462970-125462978 chr8:125462972-125462980 chr8:125462959-125462981
32	SRF	chr8:125461928-125463490	HCT-116	colon:	n/a	chr8:125462500-125462518
33	YY1	chr8:125462219-125463578	H1-hESC	embryonic stem cell:	n/a	chr8:125462971-125462981 chr8:125462970-125462978 chr8:125462972-125462980 chr8:125462959-125462981
34	MXI1	chr8:125462412-125463378	H1-hESC	embryonic stem cell:	n/a	chr8:125462986-125463001
35	NFIC	chr8:125462402-125463363	GM12878	blood:	n/a	n/a
36	POU2F2	chr8:125462313-125462736	GM12891	blood:	n/a	n/a
37	POU2F2	chr8:125462265-125462731	GM12878	blood:	n/a	n/a
38	STAT5A	chr8:125462425-125463334	K562	blood:	n/a	n/a
39	YY1	chr8:125462322-125463397	GM12878	blood:	n/a	chr8:125462971-125462981 chr8:125462970-125462978 chr8:125462972-125462980 chr8:125462959-125462981
40	CTCF	chr8:125462399-125463208	IMR90	lung:	n/a	n/a
41	POLR2A	chr8:125462406-125463333	SK-N-MC	brain:	n/a	n/a
42	ELK4	chr8:125462216-125463321	Hela-S3	cervix:	n/a	n/a
43	YY1	chr8:125462380-125463240	GM12892	blood:	n/a	chr8:125462971-125462981 chr8:125462970-125462978 chr8:125462972-125462980 chr8:125462959-125462981
44	YY1	chr8:125462361-125463270	H1-hESC	embryonic stem cell:	n/a	chr8:125462971-125462981 chr8:125462970-125462978 chr8:125462972-125462980 chr8:125462959-125462981
45	SRF	chr8:125462367-125462693	GM12878	blood:	n/a	chr8:125462500-125462518
46	ZNF384	chr8:125462405-125463184	K562	blood:	n/a	n/a
47	PML	chr8:125462425-125463441	GM12878	blood:	n/a	n/a
48	SRF	chr8:125462385-125462737	GM12878	blood:	n/a	chr8:125462500-125462518
49	CTCF	chr8:125462320-125462470	BE2_C	brain:	n/a	n/a
50	SRF	chr8:125461938-125463763	MCF-7	breast:	n/a	chr8:125462500-125462518

No.	Distal block	Cell Line	Cell type
1	chr8:125460680..125466261-chr8:125549985..125555147,10	K562	blood:
2	chr8:125459763..125466513-chr8:125482159..125488968,22	K562	blood:
3	chr8:125459763..125466594-chr8:125480347..125488760,16	K562	blood:
4	chr8:125051633..125053177-chr8:125461476..125463177,2	MCF-7	breast:
5	chr8:125209307..125211794-chr8:125460227..125463007,2	K562	blood:
6	chr8:125050963..125051899-chr8:125462149..125462696,2	MCF-7	breast:
7	chr7:150781876..150784323-chr8:125460204..125463130,2	MCF-7	breast:
8	chr14:24609134..24611550-chr8:125461758..125464369,2	MCF-7	breast:
9	chr8:125461877..125466400-chr8:125548792..125551961,4	MCF-7	breast:
10	chr8:125461480..125466921-chr8:125547850..125552862,10	MCF-7	breast:
11	chr8:125458285..125469406-chr8:125482519..125490004,41	MCF-7	breast:
12	chr8:125459427..125466261-chr8:125549985..125555147,10	K562	blood:

Variant related genes	Relation type
TRMT12	TF binding region
ENSG00000133612	Chromatin interaction
ENSG00000254249	Chromatin interaction
ENSG00000181171	Chromatin interaction
ENSG00000147687	Chromatin interaction
ENSG00000147684	Chromatin interaction
ENSG00000170881	Chromatin interaction
ENSG00000245149	Chromatin interaction
ENSG00000100908	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10195	0.87[EUR][1000 genomes]
rs10956186	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13253319	0.90[ASN][1000 genomes]
rs16899643	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16899656	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16899660	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17298171	0.85[EUR][1000 genomes]
rs3812470	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3812473	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3829033	0.87[EUR][1000 genomes]
rs4330675	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4527852	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4613980	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57929284	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6981043	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6989097	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6997089	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7017148	0.92[ASN][1000 genomes]
rs71516748	0.90[ASN][1000 genomes]
rs72713019	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72713023	0.86[EUR][1000 genomes]
rs72713032	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72713042	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72713045	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72713053	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72713055	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72713059	0.85[EUR][1000 genomes]
rs72713071	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72713073	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72713075	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72713077	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72713084	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72713096	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72713098	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72714708	0.87[EUR][1000 genomes]
rs73704274	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9643197	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762769	chr8:125167256-125480574	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1034768	chr8:125323011-125481733	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv531508	chr8:125390194-125587953	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
4	nsv891430	chr8:125431030-125485027	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1017848	chr8:125432689-125489052	Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
6	nsv891431	chr8:125437811-125485027	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv891432	chr8:125438093-125485027	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv891433	chr8:125438093-125498547	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised 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	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125450800-125462600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:125460600-125462600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:125460600-125462600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr8:125460800-125462600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:125461600-125462600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr8:125461600-125463000	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr8:125462000-125462600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
8	chr8:125462000-125462600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr8:125462000-125463000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
10	chr8:125462000-125463200	Active TSS	Adipose Nuclei	Adipose
11	chr8:125462000-125463200	Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr8:125462000-125463400	Active TSS	Rectal Smooth Muscle	rectum
13	chr8:125462000-125463400	Active TSS	Skeletal Muscle Male	skeletal muscle
14	chr8:125462000-125463600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
15	chr8:125462000-125463600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:125462000-125463600	Active TSS	Brain Anterior Caudate	brain
17	chr8:125462000-125463600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr8:125462000-125463600	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr8:125462000-125463600	Active TSS	Fetal Lung	lung
20	chr8:125462000-125463600	Active TSS	Ovary	ovary
21	chr8:125462000-125463600	Active TSS	Right Atrium	heart
22	chr8:125462000-125463800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:125462000-125463800	Active TSS	Aorta	Aorta
24	chr8:125462000-125463800	Active TSS	Colon Smooth Muscle	Colon
25	chr8:125462000-125464000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr8:125462000-125464200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr8:125462000-125464200	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr8:125462000-125464600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr8:125462200-125462600	Enhancers	H9 Cell Line	embryonic stem cell
30	chr8:125462200-125462600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
31	chr8:125462200-125462800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
32	chr8:125462200-125463200	Active TSS	Rectal Mucosa Donor 29	rectum
33	chr8:125462200-125463200	Active TSS	Rectal Mucosa Donor 31	rectum
34	chr8:125462200-125463400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr8:125462200-125463400	Active TSS	Brain Angular Gyrus	brain
36	chr8:125462200-125463400	Active TSS	Duodenum Mucosa	Duodenum
37	chr8:125462200-125463400	Active TSS	Fetal Muscle Trunk	muscle
38	chr8:125462200-125463400	Active TSS	Pancreas	Pancrea
39	chr8:125462200-125463600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr8:125462200-125463600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr8:125462200-125463600	Active TSS	Brain Cingulate Gyrus	brain
42	chr8:125462200-125463600	Active TSS	Brain Substantia Nigra	brain
43	chr8:125462200-125463600	Active TSS	Esophagus	oesophagus
44	chr8:125462200-125463600	Active TSS	Fetal Intestine Small	intestine
45	chr8:125462200-125463600	Active TSS	Fetal Stomach	stomach
46	chr8:125462200-125463600	Active TSS	Left Ventricle	heart
47	chr8:125462200-125463600	Active TSS	Stomach Smooth Muscle	stomach
48	chr8:125462200-125463600	Active TSS	NH-A	brain
49	chr8:125462200-125463800	Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr8:125462200-125463800	Active TSS	Fetal Intestine Large	intestine

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