Variant report

Variant	rs377549607
Chromosome Location	chr8:125486454-125486455
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	HCFC1	chr8:125485176-125489186	Hela-S3	cervix:	n/a	n/a
2	SRF	chr8:125486308-125487928	MCF-7	breast:	n/a	chr8:125487199-125487209
3	POLR2A	chr8:125486247-125487957	HL-60	blood:	n/a	n/a
4	E2F6	chr8:125486397-125487153	H1-hESC	embryonic stem cell:	n/a	chr8:125487056-125487065 chr8:125486820-125486829
5	POLR2A	chr8:125485747-125488054	IMR90	lung:	n/a	n/a
6	NRF1	chr8:125485862-125487129	Hela-S3	cervix:	n/a	chr8:125487056-125487065 chr8:125486821-125486830 chr8:125486819-125486830 chr8:125486819-125486830 chr8:125486819-125486828
7	POLR2A	chr8:125486362-125487240	HepG2	liver:	n/a	n/a
8	POLR2A	chr8:125485952-125488016	K562	blood:	n/a	n/a
9	CREB1	chr8:125486338-125487919	A549	lung:	n/a	chr8:125486892-125486905
10	WRNIP1	chr8:125486089-125487101	GM12878	blood:	n/a	n/a
11	ELK4	chr8:125486418-125487257	Hela-S3	cervix:	n/a	chr8:125487101-125487112
12	CCNT2	chr8:125486416-125487980	K562	blood:	n/a	n/a
13	MYC	chr8:125485786-125488002	K562	blood:	n/a	chr8:125487056-125487066 chr8:125486876-125486885 chr8:125487912-125487921
14	MYC	chr8:125485873-125487779	K562	blood:	n/a	chr8:125487056-125487066 chr8:125486876-125486885
15	SIN3AK20	chr8:125486383-125487771	PANC-1	pancreas:	n/a	n/a
16	POLR2A	chr8:125485774-125488828	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr8:125486308-125486583	H1-hESC	embryonic stem cell:	n/a	n/a
18	MYC	chr8:125485257-125487115	MCF10A-Er-Src	breast:	n/a	chr8:125487056-125487066 chr8:125486876-125486885
19	RELA	chr8:125486045-125488107	GM10847	blood:	n/a	n/a
20	POLR2A	chr8:125486333-125487365	HepG2	liver:	n/a	n/a
21	CREB1	chr8:125486317-125487296	ECC-1	luminal epithelium:	n/a	chr8:125486892-125486905
22	POLR2A	chr8:125485124-125488693	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr8:125486234-125487716	NB4	blood:	n/a	n/a
24	MAX	chr8:125486236-125487971	A549	lung:	n/a	chr8:125487056-125487066 chr8:125486876-125486885 chr8:125487912-125487921
25	SIN3A	chr8:125486091-125488880	H1-hESC	embryonic stem cell:	n/a	n/a
26	EP300	chr8:125486368-125487487	GM12878	blood:	n/a	chr8:125487201-125487210
27	CHD1	chr8:125486183-125487176	H1-hESC	embryonic stem cell:	n/a	n/a
28	REST	chr8:125486009-125488915	H1-neurons	neurons:	n/a	chr8:125487587-125487597
29	TAF1	chr8:125486202-125487983	H1-neurons	neurons:	n/a	n/a
30	CBX3	chr8:125486245-125487243	K562	blood:	n/a	n/a
31	SMARCB1	chr8:125486277-125488006	Hela-S3	cervix:	n/a	n/a
32	CHD1	chr8:125486196-125489079	GM12878	blood:	n/a	n/a
33	POLR2A	chr8:125486192-125487903	GM12892	blood:	n/a	n/a
34	GABPA	chr8:125486239-125488095	MCF-7	breast:	n/a	chr8:125487201-125487210 chr8:125487056-125487065 chr8:125486821-125486830 chr8:125486819-125486830 chr8:125486819-125486828
35	POLR2A	chr8:125486160-125487505	U87	brain:	n/a	n/a
36	BRCA1	chr8:125486383-125487127	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr8:125486019-125487991	GM19193	blood:	n/a	n/a
38	POLR2A	chr8:125486071-125488148	GM12878	blood:	n/a	n/a
39	EP300	chr8:125486169-125487653	ECC-1	luminal epithelium:	n/a	chr8:125487201-125487210
40	YY1	chr8:125486271-125487822	ECC-1	luminal epithelium:	n/a	chr8:125487050-125487064 chr8:125487056-125487070 chr8:125487030-125487052 chr8:125487204-125487213
41	E2F6	chr8:125486265-125487965	K562	blood:	n/a	chr8:125487056-125487065 chr8:125486820-125486829 chr8:125487204-125487213
42	YY1	chr8:125486384-125487711	HepG2	liver:	n/a	chr8:125487050-125487064 chr8:125487056-125487070 chr8:125487030-125487052 chr8:125487204-125487213
43	MAZ	chr8:125486316-125488031	Hela-S3	cervix:	n/a	chr8:125487056-125487066 chr8:125486876-125486885 chr8:125487912-125487921
44	RCOR1	chr8:125486291-125487901	K562	blood:	n/a	n/a
45	JUN	chr8:125486154-125489145	K562	blood:	n/a	chr8:125486890-125486903 chr8:125487589-125487598
46	ELK1	chr8:125485734-125487342	Hela-S3	cervix:	n/a	n/a
47	E2F6	chr8:125486454-125486959	A549	lung:	n/a	chr8:125486820-125486829
48	CEBPB	chr8:125486401-125487186	A549	lung:	n/a	n/a
49	TAF1	chr8:125486013-125487663	PFSK-1	brain:	n/a	n/a
50	REST	chr8:125486269-125487264	A549	lung:	n/a	n/a

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	chr3:51428671..51429493-chr8:125486419..125487202,2	HCT-116	colon:
8	chr8:124407395..124409039-chr8:125486191..125487874,2	MCF-7	breast:
9	chr17:73775457..73776213-chr8:125486418..125487191,2	HCT-116	colon:
10	chr10:101379435..101380307-chr8:125486333..125487019,2	Hela-S3	cervix:
11	chr8:125485694..125488622-chr8:125558773..125560275,2	MCF-7	breast:
12	chr8:125484651..125489587-chr8:125535041..125543731,11	K562	blood:
13	chr8:125459763..125466513-chr8:125482159..125488968,22	K562	blood:
14	chr13:27997218..27999271-chr8:125486263..125488862,2	MCF-7	breast:
15	chr8:125483604..125491110-chr8:125548591..125554086,23	K562	blood:
16	chr8:125485539..125488439-chr8:125531952..125535064,5	MCF-7	breast:
17	chr17:56736071..56736876-chr8:125486151..125486853,2	Hela-S3	cervix:
18	chr5:176924088..176925048-chr8:125486448..125487055,2	Hela-S3	cervix:
19	chr13:110438846..110439621-chr8:125485961..125486658,2	Hela-S3	cervix:
20	chr8:125486165..125488789-chr8:125574025..125577553,3	MCF-7	breast:
21	chr14:104181470..104182117-chr8:125486026..125486841,2	Hela-S3	cervix:
22	chr1:116914305..116915883-chr8:125485608..125487551,2	MCF-7	breast:
23	chr8:125484977..125488762-chr8:125516872..125524765,8	MCF-7	breast:
24	chr1:202775016..202777595-chr8:125486328..125488390,2	MCF-7	breast:
25	chr3:49202004..49204374-chr8:125485548..125487898,2	MCF-7	breast:
26	chr4:2964631..2965442-chr8:125486338..125486843,2	Hela-S3	cervix:
27	chr5:133747132..133747800-chr8:125486328..125487008,2	Hela-S3	cervix:
28	chr1:76189545..76190479-chr8:125486401..125487035,2	Hela-S3	cervix:
29	chr12:120729389..120729935-chr8:125486270..125487096,2	NB4	blood:
30	chr8:125484651..125486969-chr8:125535041..125537083,3	K562	blood:
31	chr8:125484298..125489708-chr8:125549185..125553061,9	MCF-7	breast:
32	chr11:10830328..10830916-chr8:125486418..125487049,2	Hela-S3	cervix:
33	chr8:124780302..124782573-chr8:125486403..125488504,7	MCF-7	breast:
34	chr8:125485755..125491202-chr8:125535208..125540184,8	MCF-7	breast:
35	chr8:125458285..125469406-chr8:125482519..125490004,41	MCF-7	breast:
36	chr10:76993820..76995624-chr8:125485040..125487047,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TATDN1-1	chr8:125486326-125486804	XLOC_007206
2	lnc-TATDN1-1	chr8:125486326-125486805	ENSG00000245149
3	lnc-TATDN1-1	chr8:125485051-125486817	ENSG00000245149
4	lnc-TATDN1-1	chr8:125484548-125487007	NONHSAT128586
5	lnc-TATDN1-1	chr8:125486326-125486804	NR_108047

Variant related genes	Relation type
RNF139	TF binding region
ENSG00000087269	Chromatin interaction
ENSG00000163399	Chromatin interaction
ENSG00000196923	Chromatin interaction
ENSG00000178193	Chromatin interaction
ENSG00000117054	Chromatin interaction
ENSG00000147687	Chromatin interaction
ENSG00000125388	Chromatin interaction
ENSG00000132475	Chromatin interaction
ENSG00000177352	Chromatin interaction
ENSG00000183665	Chromatin interaction
ENSG00000179837	Chromatin interaction
ENSG00000117139	Chromatin interaction
ENSG00000123136	Chromatin interaction
ENSG00000155287	Chromatin interaction
ENSG00000156802	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000170873	Chromatin interaction
ENSG00000126215	Chromatin interaction
ENSG00000165644	Chromatin interaction
ENSG00000237190	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000176853	Chromatin interaction
ENSG00000246308	Chromatin interaction
ENSG00000110321	Chromatin interaction
ENSG00000100711	Chromatin interaction
ENSG00000122034	Chromatin interaction
ENSG00000185950	Chromatin interaction
ENSG00000147684	Chromatin interaction
ENSG00000253513	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	chr8:125484000-125489000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr8:125484200-125488600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr8:125484200-125488600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:125484200-125488800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr8:125484200-125488800	Active TSS	HSMM	muscle
6	chr8:125484200-125489200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr8:125484200-125489400	Active TSS	K562	blood
8	chr8:125484400-125488400	Active TSS	Muscle Satellite Cultured Cells	--
9	chr8:125484400-125488800	Active TSS	NHLF	lung
10	chr8:125484400-125489000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr8:125484400-125489600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr8:125484600-125486800	Flanking Active TSS	Primary hematopoietic stem cells	blood
13	chr8:125484600-125487600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr8:125484600-125488600	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr8:125484600-125488600	Active TSS	NHDF-Ad	bronchial
16	chr8:125484600-125489200	Active TSS	Right Ventricle	heart
17	chr8:125484800-125486800	Active TSS	Right Atrium	heart
18	chr8:125484800-125488400	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr8:125484800-125488400	Active TSS	HSMMtube	muscle
20	chr8:125484800-125488400	Active TSS	NH-A	brain
21	chr8:125484800-125489000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr8:125484800-125489200	Active TSS	Aorta	Aorta
23	chr8:125484800-125489200	Active TSS	Ovary	ovary
24	chr8:125484800-125489200	Active TSS	A549	lung
25	chr8:125484800-125489400	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr8:125484800-125489400	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr8:125484800-125489400	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr8:125484800-125490200	Active TSS	GM12878-XiMat	blood
29	chr8:125485000-125487800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr8:125485000-125487800	Active TSS	Hela-S3	cervix
31	chr8:125485000-125488200	Active TSS	Fetal Kidney	kidney
32	chr8:125485000-125488800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr8:125485000-125488800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr8:125485000-125488800	Active TSS	Fetal Intestine Large	intestine
35	chr8:125485000-125488800	Active TSS	Fetal Intestine Small	intestine
36	chr8:125485000-125488800	Active TSS	HMEC	breast
37	chr8:125485000-125488800	Active TSS	NHEK	skin
38	chr8:125485200-125486600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr8:125485200-125488400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr8:125485200-125488600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr8:125485200-125488600	Active TSS	Placenta	Placenta
42	chr8:125485200-125489000	Active TSS	Fetal Muscle Trunk	muscle
43	chr8:125485200-125489200	Active TSS	H1 Cell Line	embryonic stem cell
44	chr8:125485400-125486800	Flanking Active TSS	Primary B cells from cord blood	blood
45	chr8:125485400-125486800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
46	chr8:125485400-125488000	Active TSS	Fetal Muscle Leg	muscle
47	chr8:125485400-125488200	Active TSS	Gastric	stomach
48	chr8:125485400-125488200	Active TSS	Lung	lung
49	chr8:125485400-125488800	Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr8:125485400-125488800	Active TSS	ES-WA7 Cell Line	embryonic stem cell

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