Variant report

Variant	rs528890722
Chromosome Location	chr8:119123478-119123479
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	YY1	chr8:119122735-119123737	H1-hESC	embryonic stem cell:	n/a	chr8:119123364-119123374 chr8:119123365-119123373 chr8:119123362-119123381
2	POLR2A	chr8:119122692-119123919	H1-hESC	embryonic stem cell:	n/a	n/a
3	RAD21	chr8:119121921-119124581	IMR90	lung:	n/a	n/a
4	MXI1	chr8:119123015-119124606	HepG2	liver:	n/a	chr8:119124299-119124308
5	CEBPB	chr8:119122965-119123767	H1-hESC	embryonic stem cell:	n/a	chr8:119123499-119123510 chr8:119123501-119123510
6	POLR2A	chr8:119123145-119124677	GM19193	blood:	n/a	n/a
7	CEBPB	chr8:119123100-119123811	MCF-7	breast:	n/a	chr8:119123499-119123510 chr8:119123501-119123510
8	SMC3	chr8:119122809-119125558	Hela-S3	cervix:	n/a	n/a
9	MAFK	chr8:119123163-119123557	Hela-S3	cervix:	n/a	n/a
10	YY1	chr8:119122920-119123798	GM12878	blood:	n/a	chr8:119123364-119123374 chr8:119123365-119123373 chr8:119123362-119123381
11	SMARCB1	chr8:119122020-119124888	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr8:119123155-119124270	HepG2	liver:	n/a	chr8:119123499-119123510 chr8:119123501-119123510
13	FOXA1	chr8:119123145-119123520	T-47D	breast:	n/a	chr8:119123312-119123324
14	CHD2	chr8:119123016-119124541	Hela-S3	cervix:	n/a	chr8:119123550-119123560
15	POLR2A	chr8:119122946-119124604	Hela-S3	cervix:	n/a	n/a
16	REST	chr8:119122741-119125044	H1-neurons	neurons:	n/a	chr8:119124110-119124117
17	MYC	chr8:119123320-119123489	MCF10A-Er-Src	breast:	n/a	n/a
18	MTA3	chr8:119123190-119123590	GM12878	blood:	n/a	n/a
19	HCFC1	chr8:119121782-119124708	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr8:119123412-119123592	HepG2	liver:	n/a	n/a
21	TCF12	chr8:119122716-119123658	A549	lung:	n/a	n/a
22	MAX	chr8:119123408-119123756	GM12878	blood:	n/a	n/a
23	JUND	chr8:119123345-119124671	H1-hESC	embryonic stem cell:	n/a	chr8:119124170-119124179
24	TAF1	chr8:119123058-119123880	H1-neurons	neurons:	n/a	n/a
25	MAX	chr8:119121842-119124585	A549	lung:	n/a	n/a
26	MAZ	chr8:119122672-119126306	IMR90	lung:	n/a	chr8:119125753-119125764 chr8:119125057-119125066
27	TAF7	chr8:119123351-119124488	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr8:119122800-119125674	Hela-S3	cervix:	n/a	n/a
29	PML	chr8:119122922-119123551	GM12878	blood:	n/a	n/a
30	USF2	chr8:119123231-119123683	Hela-S3	cervix:	n/a	n/a
31	EP300	chr8:119123376-119124503	HepG2	liver:	n/a	chr8:119124336-119124352 chr8:119123596-119123610
32	MAX	chr8:119122883-119123606	MCF-7	breast:	n/a	n/a
33	CEBPD	chr8:119123315-119123668	HepG2	liver:	n/a	n/a
34	CEBPB	chr8:119123183-119123697	HepG2	liver:	n/a	chr8:119123499-119123510 chr8:119123501-119123510
35	CEBPB	chr8:119123035-119123671	MCF-7	breast:	n/a	chr8:119123499-119123510 chr8:119123501-119123510
36	MXI1	chr8:119123275-119123723	GM12878	blood:	n/a	n/a
37	CHD1	chr8:119121604-119123847	H1-hESC	embryonic stem cell:	n/a	chr8:119123550-119123560
38	FOXA2	chr8:119123046-119123598	A549	lung:	n/a	chr8:119123312-119123324
39	RCOR1	chr8:119123397-119124596	K562	blood:	n/a	n/a
40	CEBPB	chr8:119123200-119123680	HepG2	liver:	n/a	chr8:119123499-119123510 chr8:119123501-119123510
41	RAD21	chr8:119123342-119123542	A549	lung:	n/a	n/a
42	NFYA	chr8:119123237-119123764	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr8:119122773-119123556	U87	brain:	n/a	n/a
44	POLR2A	chr8:119123252-119124730	HepG2	liver:	n/a	n/a
45	SIN3AK20	chr8:119120871-119123906	PFSK-1	brain:	n/a	n/a
46	RAD21	chr8:119119998-119126465	SK-N-SH	brain:	n/a	chr8:119125772-119125782
47	TCF7L2	chr8:119122023-119124463	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr8:119123372-119124640	H1-hESC	embryonic stem cell:	n/a	n/a
49	CEBPB	chr8:119123259-119123710	A549	lung:	n/a	chr8:119123499-119123510 chr8:119123501-119123510
50	CEBPB	chr8:119123377-119123608	HepG2	liver:	n/a	chr8:119123499-119123510 chr8:119123501-119123510

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:119120329..119122682-chr8:119122926..119125583,4	MCF-7	breast:

Variant related genes	Relation type
EXT1	TF binding region
ENSG00000182197	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030459	chr8:118840179-119155835	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1015380	chr8:118948652-119418389	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription 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 miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv539736	chr8:118948652-119418389	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv831441	chr8:119055370-119262970	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription 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 miRNA target site	14 gene(s)	inside rSNPs	diseases
6	esv2752195	chr8:119058819-119139819	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv821660	chr8:119082062-119312183	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv891412	chr8:119107051-119139385	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
9	esv3340875	chr8:119122996-119125544	Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
10	esv3346788	chr8:119123071-119125569	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 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	chr8:119118800-119124800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr8:119118800-119125000	Active TSS	Aorta	Aorta
3	chr8:119119000-119124600	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr8:119119000-119125000	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr8:119119800-119124600	Active TSS	Brain Angular Gyrus	brain
6	chr8:119120000-119125000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr8:119120200-119124400	Active TSS	NH-A	brain
8	chr8:119120200-119124600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr8:119120200-119124600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:119120200-119124600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:119120200-119124600	Active TSS	Colonic Mucosa	Colon
12	chr8:119120200-119124600	Active TSS	Fetal Intestine Large	intestine
13	chr8:119120200-119124600	Active TSS	Fetal Stomach	stomach
14	chr8:119120200-119124600	Active TSS	HSMM	muscle
15	chr8:119120200-119124800	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr8:119120200-119124800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr8:119120200-119124800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr8:119120200-119124800	Active TSS	Right Atrium	heart
19	chr8:119120200-119124800	Active TSS	Right Ventricle	heart
20	chr8:119120200-119124800	Active TSS	HSMMtube	muscle
21	chr8:119120400-119124600	Active TSS	Rectal Smooth Muscle	rectum
22	chr8:119120400-119124600	Active TSS	Stomach Mucosa	stomach
23	chr8:119120400-119124600	Active TSS	HMEC	breast
24	chr8:119120600-119123600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr8:119120600-119124800	Flanking Active TSS	Primary hematopoietic stem cells	blood
26	chr8:119120600-119124800	Active TSS	Sigmoid Colon	Sigmoid Colon
27	chr8:119120600-119124800	Active TSS	Small Intestine	intestine
28	chr8:119120600-119124800	Active TSS	A549	lung
29	chr8:119120800-119124400	Active TSS	Gastric	stomach
30	chr8:119120800-119124600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:119120800-119124600	Active TSS	Esophagus	oesophagus
32	chr8:119120800-119124800	Active TSS	Colon Smooth Muscle	Colon
33	chr8:119120800-119124800	Active TSS	Placenta Amnion	Placenta Amnion
34	chr8:119121000-119123600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
35	chr8:119121000-119123600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
36	chr8:119121000-119123800	Active TSS	Fetal Heart	heart
37	chr8:119121000-119124600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr8:119121000-119124600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr8:119121400-119124600	Active TSS	Rectal Mucosa Donor 31	rectum
40	chr8:119121600-119123600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
41	chr8:119121600-119124600	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr8:119121600-119124600	Active TSS	Fetal Kidney	kidney
43	chr8:119121600-119124600	Bivalent/Poised TSS	HepG2	liver
44	chr8:119121600-119124800	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr8:119121800-119123600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
46	chr8:119121800-119123600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr8:119121800-119123800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
48	chr8:119121800-119123800	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
49	chr8:119121800-119123800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
50	chr8:119121800-119124400	Active TSS	HUVEC	blood vessel

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