Variant report

Variant	rs188740055
Chromosome Location	chr8:119123920-119123921
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	RAD21	chr8:119121921-119124581	IMR90	lung:	n/a	n/a
2	MXI1	chr8:119123015-119124606	HepG2	liver:	n/a	chr8:119124299-119124308
3	POLR2A	chr8:119123783-119124502	ECC-1	luminal epithelium:	n/a	n/a
4	POLR2A	chr8:119123145-119124677	GM19193	blood:	n/a	n/a
5	MAX	chr8:119123607-119124682	MCF-7	breast:	n/a	n/a
6	EP300	chr8:119123775-119124540	ECC-1	luminal epithelium:	n/a	chr8:119124336-119124352
7	YY1	chr8:119123910-119124560	GM12878	blood:	n/a	chr8:119124332-119124343 chr8:119124408-119124419 chr8:119124332-119124341 chr8:119124134-119124148
8	MAX	chr8:119123891-119124524	H1-hESC	embryonic stem cell:	n/a	n/a
9	CREB1	chr8:119123802-119124500	GM12878	blood:	n/a	n/a
10	SMC3	chr8:119122809-119125558	Hela-S3	cervix:	n/a	n/a
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	JUND	chr8:119123777-119124497	A549	lung:	n/a	chr8:119124170-119124179
14	YY1	chr8:119123827-119124550	HepG2	liver:	n/a	chr8:119124332-119124343 chr8:119124408-119124419 chr8:119124332-119124341 chr8:119124134-119124148
15	PML	chr8:119123855-119124526	GM12878	blood:	n/a	n/a
16	CHD2	chr8:119123016-119124541	Hela-S3	cervix:	n/a	chr8:119123550-119123560
17	TAF1	chr8:119123638-119124509	ECC-1	luminal epithelium:	n/a	n/a
18	POLR2A	chr8:119123659-119124480	U87	brain:	n/a	n/a
19	POLR2A	chr8:119123885-119124454	SK-N-SH	brain:	n/a	n/a
20	TAF1	chr8:119123845-119124381	Hela-S3	cervix:	n/a	n/a
21	FOXM1	chr8:119123903-119124409	GM12878	blood:	n/a	n/a
22	POLR2A	chr8:119123653-119124601	GM12892	blood:	n/a	n/a
23	POLR2A	chr8:119122946-119124604	Hela-S3	cervix:	n/a	n/a
24	MAX	chr8:119123818-119124437	A549	lung:	n/a	n/a
25	MAX	chr8:119123903-119124440	SK-N-SH	brain:	n/a	n/a
26	REST	chr8:119122741-119125044	H1-neurons	neurons:	n/a	chr8:119124110-119124117
27	POLR2A	chr8:119123599-119125623	Hela-S3	cervix:	n/a	n/a
28	HCFC1	chr8:119121782-119124708	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr8:119123804-119124514	A549	lung:	n/a	n/a
30	TAF1	chr8:119123877-119124440	HepG2	liver:	n/a	n/a
31	POLR2A	chr8:119123871-119124509	HEK293	kidney:	n/a	n/a
32	JUND	chr8:119123345-119124671	H1-hESC	embryonic stem cell:	n/a	chr8:119124170-119124179
33	POLR2A	chr8:119123792-119124458	GM12878	blood:	n/a	n/a
34	TEAD4	chr8:119123903-119124309	HepG2	liver:	n/a	chr8:119124090-119124099
35	MAX	chr8:119121842-119124585	A549	lung:	n/a	n/a
36	MAZ	chr8:119122672-119126306	IMR90	lung:	n/a	chr8:119125753-119125764 chr8:119125057-119125066
37	TAF7	chr8:119123351-119124488	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr8:119122800-119125674	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr8:119123701-119124574	MCF-7	breast:	n/a	n/a
40	ATF2	chr8:119123912-119124362	H1-hESC	embryonic stem cell:	n/a	n/a
41	FOXA2	chr8:119123710-119124519	A549	lung:	n/a	n/a
42	CREB1	chr8:119123695-119124594	A549	lung:	n/a	n/a
43	EP300	chr8:119123376-119124503	HepG2	liver:	n/a	chr8:119124336-119124352 chr8:119123596-119123610
44	TAF1	chr8:119123882-119124393	SK-N-SH	brain:	n/a	n/a
45	CREB1	chr8:119123585-119124503	HepG2	liver:	n/a	n/a
46	POLR2A	chr8:119123791-119124630	ECC-1	luminal epithelium:	n/a	n/a
47	FOXP2	chr8:119123727-119124523	PFSK-1	brain:	n/a	n/a
48	CREB1	chr8:119123848-119124401	HepG2	liver:	n/a	n/a
49	POLR2A	chr8:119123807-119125645	PFSK-1	brain:	n/a	n/a
50	CREB1	chr8:119123822-119124437	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:36789374..36789875-chr8:119123638..119124514,2	Hela-S3	cervix:
2	chr19:12912250..12913144-chr8:119123766..119124613,2	Hela-S3	cervix:
3	chr15:77713135..77713891-chr8:119123894..119124590,2	HCT-116	colon:
4	chr8:119120329..119122682-chr8:119122926..119125583,4	MCF-7	breast:
5	chr11:10830483..10831166-chr8:119123692..119124582,2	Hela-S3	cervix:

Variant related genes	Relation type
EXT1	TF binding region
ENSG00000246308	Chromatin interaction
ENSG00000182197	Chromatin interaction
ENSG00000151332	Chromatin interaction
ENSG00000110321	Chromatin interaction
ENSG00000167815	Chromatin interaction
ENSG00000140382	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	chr8:119120600-119124800	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr8:119120600-119124800	Active TSS	Sigmoid Colon	Sigmoid Colon
26	chr8:119120600-119124800	Active TSS	Small Intestine	intestine
27	chr8:119120600-119124800	Active TSS	A549	lung
28	chr8:119120800-119124400	Active TSS	Gastric	stomach
29	chr8:119120800-119124600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:119120800-119124600	Active TSS	Esophagus	oesophagus
31	chr8:119120800-119124800	Active TSS	Colon Smooth Muscle	Colon
32	chr8:119120800-119124800	Active TSS	Placenta Amnion	Placenta Amnion
33	chr8:119121000-119124600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr8:119121000-119124600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr8:119121400-119124600	Active TSS	Rectal Mucosa Donor 31	rectum
36	chr8:119121600-119124600	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr8:119121600-119124600	Active TSS	Fetal Kidney	kidney
38	chr8:119121600-119124600	Bivalent/Poised TSS	HepG2	liver
39	chr8:119121600-119124800	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr8:119121800-119124400	Active TSS	HUVEC	blood vessel
41	chr8:119122000-119124000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr8:119122200-119124600	Active TSS	Fetal Muscle Leg	muscle
43	chr8:119122200-119124600	Active TSS	Stomach Smooth Muscle	stomach
44	chr8:119122400-119124600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr8:119122400-119124600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr8:119122400-119124600	Active TSS	Brain Cingulate Gyrus	brain
47	chr8:119122400-119124800	Active TSS	Ovary	ovary
48	chr8:119122400-119125000	Active TSS	Brain Hippocampus Middle	brain
49	chr8:119122400-119125200	Active TSS	Liver	Liver
50	chr8:119122600-119124600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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