Variant report

Variant	rs369471353
Chromosome Location	chr8:125486081-125486082
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	HCFC1	chr8:125485176-125489186	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr8:125485747-125488054	IMR90	lung:	n/a	n/a
3	NRF1	chr8:125485862-125487129	Hela-S3	cervix:	n/a	chr8:125487056-125487065 chr8:125486821-125486830 chr8:125486819-125486830 chr8:125486819-125486830 chr8:125486819-125486828
4	POLR2A	chr8:125485952-125488016	K562	blood:	n/a	n/a
5	MYC	chr8:125485786-125488002	K562	blood:	n/a	chr8:125487056-125487066 chr8:125486876-125486885 chr8:125487912-125487921
6	MYC	chr8:125485873-125487779	K562	blood:	n/a	chr8:125487056-125487066 chr8:125486876-125486885
7	POLR2A	chr8:125485774-125488828	Hela-S3	cervix:	n/a	n/a
8	MYC	chr8:125485257-125487115	MCF10A-Er-Src	breast:	n/a	chr8:125487056-125487066 chr8:125486876-125486885
9	RELA	chr8:125486045-125488107	GM10847	blood:	n/a	n/a
10	POLR2A	chr8:125485124-125488693	MCF10A-Er-Src	breast:	n/a	n/a
11	REST	chr8:125486009-125488915	H1-neurons	neurons:	n/a	chr8:125487587-125487597
12	POLR2A	chr8:125486019-125487991	GM19193	blood:	n/a	n/a
13	POLR2A	chr8:125486071-125488148	GM12878	blood:	n/a	n/a
14	ELK1	chr8:125485734-125487342	Hela-S3	cervix:	n/a	n/a
15	TAF1	chr8:125486013-125487663	PFSK-1	brain:	n/a	n/a
16	MAX	chr8:125485865-125487916	Hela-S3	cervix:	n/a	chr8:125487056-125487066 chr8:125486876-125486885
17	NR2F2	chr8:125485964-125488186	MCF-7	breast:	n/a	n/a
18	NRF1	chr8:125485857-125487796	SK-N-SH	brain:	n/a	chr8:125487201-125487210 chr8:125487056-125487065 chr8:125486821-125486830 chr8:125486819-125486830 chr8:125486819-125486830 chr8:125486819-125486828
19	ARID3A	chr8:125485691-125487043	K562	blood:	n/a	n/a
20	POLR2A	chr8:125486016-125488152	GM12878	blood:	n/a	n/a
21	MAX	chr8:125485977-125488120	MCF-7	breast:	n/a	chr8:125487056-125487066 chr8:125486876-125486885 chr8:125487912-125487921
22	PML	chr8:125486076-125488002	K562	blood:	n/a	n/a
23	MXI1	chr8:125485872-125488618	Hela-S3	cervix:	n/a	chr8:125486870-125486885
24	POLR2A	chr8:125485665-125487935	K562	blood:	n/a	n/a
25	MXI1	chr8:125485987-125488025	GM12878	blood:	n/a	chr8:125486870-125486885
26	POLR2A	chr8:125485966-125488011	Raji	blood:	n/a	n/a
27	EGR1	chr8:125485850-125488193	MCF-7	breast:	n/a	chr8:125487058-125487072 chr8:125486953-125486963 chr8:125487204-125487214 chr8:125487057-125487070 chr8:125486820-125486829
28	POLR2A	chr8:125485972-125487909	PFSK-1	brain:	n/a	n/a
29	ZKSCAN1	chr8:125485991-125487952	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr8:125485914-125489028	GM12891	blood:	n/a	n/a
31	FOS	chr8:125485816-125487127	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr8:125485854-125488127	Hela-S3	cervix:	n/a	n/a
33	RCOR1	chr8:125485908-125487949	Hela-S3	cervix:	n/a	n/a
34	GTF2B	chr8:125485952-125486981	K562	blood:	n/a	n/a
35	TBP	chr8:125485899-125487168	HepG2	liver:	n/a	n/a
36	BCL3	chr8:125485982-125487180	A549	lung:	n/a	n/a
37	MAFK	chr8:125485930-125490370	GM12878	blood:	n/a	chr8:125489996-125490007 chr8:125489995-125490006 chr8:125490001-125490017 chr8:125489998-125490014 chr8:125490004-125490018 chr8:125489996-125490016 chr8:125489995-125490010 chr8:125489995-125490006 chr8:125489999-125490013
38	POLR2A	chr8:125486042-125487777	PANC-1	pancreas:	n/a	n/a
39	POLR2A	chr8:125485210-125488989	MCF10A-Er-Src	breast:	n/a	n/a
40	TCF12	chr8:125486015-125487991	A549	lung:	n/a	chr8:125486312-125486319
41	MAX	chr8:125485993-125488105	MCF-7	breast:	n/a	chr8:125487056-125487066 chr8:125486876-125486885 chr8:125487912-125487921
42	BRCA1	chr8:125485590-125487195	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr8:125485935-125487773	Hela-S3	cervix:	n/a	n/a
44	CHD2	chr8:125485987-125487833	Hela-S3	cervix:	n/a	n/a
45	NR2F2	chr8:125485714-125487284	K562	blood:	n/a	n/a
46	MAX	chr8:125485890-125487895	Hela-S3	cervix:	n/a	chr8:125487056-125487066 chr8:125486876-125486885
47	EGR1	chr8:125485910-125486180	K562	blood:	n/a	n/a
48	POLR2A	chr8:125485958-125487943	GM18951	blood:	n/a	n/a
49	POLR2A	chr8:125485865-125488073	K562	blood:	n/a	n/a
50	SMC3	chr8:125485901-125487180	Hela-S3	cervix:	n/a	chr8:125486828-125486842

No.	Distal block	Cell Line	Cell type
1	chr8:125482386..125490832-chr8:125532319..125553620,55	MCF-7	breast:
2	chr8:125459763..125466594-chr8:125480347..125488760,16	K562	blood:
3	chr8:125485961..125487605-chr8:126008959..126010729,2	MCF-7	breast:
4	chr8:125484053..125491713-chr8:125548138..125554442,21	K562	blood:
5	chr19:14529783..14530580-chr8:125485924..125486888,2	Hela-S3	cervix:
6	chr8:125485971..125490407-chr8:125553790..125556730,4	MCF-7	breast:
7	chr8:125485694..125488622-chr8:125558773..125560275,2	MCF-7	breast:
8	chr8:125484651..125489587-chr8:125535041..125543731,11	K562	blood:
9	chr8:125459763..125466513-chr8:125482159..125488968,22	K562	blood:
10	chr8:125483604..125491110-chr8:125548591..125554086,23	K562	blood:
11	chr8:124558050..124560805-chr8:125484658..125486261,2	MCF-7	breast:
12	chr8:125485539..125488439-chr8:125531952..125535064,5	MCF-7	breast:
13	chr13:110438846..110439621-chr8:125485961..125486658,2	Hela-S3	cervix:
14	chr14:104181470..104182117-chr8:125486026..125486841,2	Hela-S3	cervix:
15	chr1:116914305..116915883-chr8:125485608..125487551,2	MCF-7	breast:
16	chr8:125484977..125488762-chr8:125516872..125524765,8	MCF-7	breast:
17	chr3:49202004..49204374-chr8:125485548..125487898,2	MCF-7	breast:
18	chr8:125484651..125486969-chr8:125535041..125537083,3	K562	blood:
19	chr8:125484298..125489708-chr8:125549185..125553061,9	MCF-7	breast:
20	chr8:125485755..125491202-chr8:125535208..125540184,8	MCF-7	breast:
21	chr8:125458285..125469406-chr8:125482519..125490004,41	MCF-7	breast:
22	chr10:76993820..76995624-chr8:125485040..125487047,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TATDN1-1	chr8:125485051-125486817	ENSG00000245149
2	lnc-TATDN1-1	chr8:125485925-125486133	NONHSAT128584
3	lnc-TATDN1-1	chr8:125484548-125487007	NONHSAT128586

Variant related genes	Relation type
RNF139	TF binding region
ENSG00000177352	Chromatin interaction
ENSG00000147684	Chromatin interaction
ENSG00000100711	Chromatin interaction
ENSG00000253513	Chromatin interaction
ENSG00000165644	Chromatin interaction
ENSG00000163399	Chromatin interaction
ENSG00000147687	Chromatin interaction
ENSG00000123136	Chromatin interaction
ENSG00000185950	Chromatin interaction
ENSG00000183665	Chromatin interaction
ENSG00000126215	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	esv3339866	chr8:125485996-125488544	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	49 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	chr8:125483800-125486200	Enhancers	Spleen	Spleen
2	chr8:125484000-125489000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:125484200-125488600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr8:125484200-125488600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:125484200-125488800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr8:125484200-125488800	Active TSS	HSMM	muscle
7	chr8:125484200-125489200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr8:125484200-125489400	Active TSS	K562	blood
9	chr8:125484400-125486200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:125484400-125488400	Active TSS	Muscle Satellite Cultured Cells	--
11	chr8:125484400-125488800	Active TSS	NHLF	lung
12	chr8:125484400-125489000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr8:125484400-125489600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:125484600-125486200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:125484600-125486800	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr8:125484600-125487600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr8:125484600-125488600	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr8:125484600-125488600	Active TSS	NHDF-Ad	bronchial
19	chr8:125484600-125489200	Active TSS	Right Ventricle	heart
20	chr8:125484800-125486800	Active TSS	Right Atrium	heart
21	chr8:125484800-125488400	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr8:125484800-125488400	Active TSS	HSMMtube	muscle
23	chr8:125484800-125488400	Active TSS	NH-A	brain
24	chr8:125484800-125489000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr8:125484800-125489200	Active TSS	Aorta	Aorta
26	chr8:125484800-125489200	Active TSS	Ovary	ovary
27	chr8:125484800-125489200	Active TSS	A549	lung
28	chr8:125484800-125489400	Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr8:125484800-125489400	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr8:125484800-125489400	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr8:125484800-125490200	Active TSS	GM12878-XiMat	blood
32	chr8:125485000-125486200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
33	chr8:125485000-125487800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr8:125485000-125487800	Active TSS	Hela-S3	cervix
35	chr8:125485000-125488200	Active TSS	Fetal Kidney	kidney
36	chr8:125485000-125488800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr8:125485000-125488800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr8:125485000-125488800	Active TSS	Fetal Intestine Large	intestine
39	chr8:125485000-125488800	Active TSS	Fetal Intestine Small	intestine
40	chr8:125485000-125488800	Active TSS	HMEC	breast
41	chr8:125485000-125488800	Active TSS	NHEK	skin
42	chr8:125485200-125486200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
43	chr8:125485200-125486200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr8:125485200-125486200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
45	chr8:125485200-125486200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
46	chr8:125485200-125486200	Flanking Active TSS	Liver	Liver
47	chr8:125485200-125486200	Flanking Active TSS	Brain Anterior Caudate	brain
48	chr8:125485200-125486200	Flanking Active TSS	Brain Cingulate Gyrus	brain
49	chr8:125485200-125486200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
50	chr8:125485200-125486200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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