Variant report

Variant	rs4613980
Chromosome Location	chr8:125462350-125462351
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	CTCF	chr8:125462300-125462450	GM12872	blood:	n/a	n/a
2	YY1	chr8:125462315-125463231	K562	blood:	n/a	chr8:125462971-125462981 chr8:125462970-125462978 chr8:125462972-125462980 chr8:125462959-125462981
3	MXI1	chr8:125461952-125464799	SK-N-SH	brain:	n/a	chr8:125462986-125463001
4	HCFC1	chr8:125461831-125464659	Hela-S3	cervix:	n/a	n/a
5	YY1	chr8:125462288-125463813	K562	blood:	n/a	chr8:125462971-125462981 chr8:125462970-125462978 chr8:125462972-125462980 chr8:125462959-125462981
6	YY1	chr8:125462297-125463340	SK-N-SH_RA	brain:	n/a	chr8:125462971-125462981 chr8:125462970-125462978 chr8:125462972-125462980 chr8:125462959-125462981
7	SRF	chr8:125461928-125463490	HCT-116	colon:	n/a	chr8:125462500-125462518
8	YY1	chr8:125462219-125463578	H1-hESC	embryonic stem cell:	n/a	chr8:125462971-125462981 chr8:125462970-125462978 chr8:125462972-125462980 chr8:125462959-125462981
9	POU2F2	chr8:125462313-125462736	GM12891	blood:	n/a	n/a
10	POU2F2	chr8:125462265-125462731	GM12878	blood:	n/a	n/a
11	YY1	chr8:125462322-125463397	GM12878	blood:	n/a	chr8:125462971-125462981 chr8:125462970-125462978 chr8:125462972-125462980 chr8:125462959-125462981
12	ELK4	chr8:125462216-125463321	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr8:125462320-125462470	BE2_C	brain:	n/a	n/a
14	SRF	chr8:125461938-125463763	MCF-7	breast:	n/a	chr8:125462500-125462518
15	TAF1	chr8:125462315-125463745	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr8:125462250-125463869	SK-N-MC	brain:	n/a	n/a
17	YY1	chr8:125462137-125463653	SK-N-SH	brain:	n/a	chr8:125462971-125462981 chr8:125462970-125462978 chr8:125462972-125462980 chr8:125462959-125462981
18	YY1	chr8:125462174-125463797	A549	lung:	n/a	chr8:125462971-125462981 chr8:125462970-125462978 chr8:125462972-125462980 chr8:125462959-125462981
19	SIN3AK20	chr8:125462197-125463952	MCF-7	breast:	n/a	n/a
20	POLR2A	chr8:125462229-125464112	H1-hESC	embryonic stem cell:	n/a	n/a
21	SRF	chr8:125462287-125462689	H1-hESC	embryonic stem cell:	n/a	chr8:125462500-125462518
22	SRF	chr8:125461936-125463497	HCT-116	colon:	n/a	chr8:125462500-125462518
23	SRF	chr8:125461983-125463783	MCF-7	breast:	n/a	chr8:125462500-125462518
24	YY1	chr8:125462316-125463427	GM12878	blood:	n/a	chr8:125462971-125462981 chr8:125462970-125462978 chr8:125462972-125462980 chr8:125462959-125462981
25	MXI1	chr8:125462216-125464233	IMR90	lung:	n/a	chr8:125462986-125463001
26	TCF12	chr8:125462321-125463613	A549	lung:	n/a	n/a
27	CTCF	chr8:125462204-125463733	SK-N-SH	brain:	n/a	n/a
28	YY1	chr8:125462299-125463792	GM12892	blood:	n/a	chr8:125462971-125462981 chr8:125462970-125462978 chr8:125462972-125462980 chr8:125462959-125462981
29	IRF1	chr8:125462291-125463267	K562	blood:	n/a	n/a
30	ELK4	chr8:125462175-125463122	HEK293	kidney:	n/a	n/a

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
ENSG00000181171	Chromatin interaction
ENSG00000147684	Chromatin interaction
ENSG00000147687	Chromatin interaction
ENSG00000254249	Chromatin interaction
ENSG00000170881	Chromatin interaction
ENSG00000133612	Chromatin interaction
ENSG00000100908	Chromatin interaction
ENSG00000245149	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]
rs4621790	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:108 , 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	chr8:125460200-125462400	Weak transcription	HSMM	muscle
3	chr8:125460400-125462400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:125460600-125462400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr8:125460600-125462600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:125460600-125462600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr8:125460800-125462600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr8:125461600-125462600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr8:125461600-125463000	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr8:125462000-125462400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr8:125462000-125462400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr8:125462000-125462400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr8:125462000-125462400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:125462000-125462400	Flanking Active TSS	Primary T cells from cord blood	blood
15	chr8:125462000-125462400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
16	chr8:125462000-125462400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
17	chr8:125462000-125462400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
18	chr8:125462000-125462400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
19	chr8:125462000-125462400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr8:125462000-125462400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
21	chr8:125462000-125462400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
22	chr8:125462000-125462400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr8:125462000-125462400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
24	chr8:125462000-125462400	Flanking Active TSS	Brain Hippocampus Middle	brain
25	chr8:125462000-125462400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
26	chr8:125462000-125462400	Flanking Active TSS	Hela-S3	cervix
27	chr8:125462000-125462400	Flanking Active TSS	HMEC	breast
28	chr8:125462000-125462400	Flanking Active TSS	K562	blood
29	chr8:125462000-125462400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr8:125462000-125462400	Flanking Active TSS	NHDF-Ad	bronchial
31	chr8:125462000-125462600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr8:125462000-125462600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr8:125462000-125463000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr8:125462000-125463200	Active TSS	Adipose Nuclei	Adipose
35	chr8:125462000-125463200	Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr8:125462000-125463400	Active TSS	Rectal Smooth Muscle	rectum
37	chr8:125462000-125463400	Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr8:125462000-125463600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr8:125462000-125463600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr8:125462000-125463600	Active TSS	Brain Anterior Caudate	brain
41	chr8:125462000-125463600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr8:125462000-125463600	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr8:125462000-125463600	Active TSS	Fetal Lung	lung
44	chr8:125462000-125463600	Active TSS	Ovary	ovary
45	chr8:125462000-125463600	Active TSS	Right Atrium	heart
46	chr8:125462000-125463800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr8:125462000-125463800	Active TSS	Aorta	Aorta
48	chr8:125462000-125463800	Active TSS	Colon Smooth Muscle	Colon
49	chr8:125462000-125464000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
50	chr8:125462000-125464200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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