Variant report

Variant	rs28413169
Chromosome Location	chr8:19675007-19675008
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	ATF3	chr8:19674599-19675104	A549	lung:	n/a	n/a
2	POLR2A	chr8:19674261-19675933	MCF-7	breast:	n/a	n/a
3	CREB1	chr8:19674319-19675302	GM12878	blood:	n/a	n/a
4	MAFK	chr8:19674701-19675080	K562	blood:	n/a	n/a
5	POLR2A	chr8:19674062-19675954	K562	blood:	n/a	n/a
6	MYBL2	chr8:19674609-19675294	HepG2	liver:	n/a	chr8:19674797-19674811
7	GATA3	chr8:19674422-19675316	A549	lung:	n/a	n/a
8	POLR2A	chr8:19674329-19675247	K562	blood:	n/a	n/a
9	TEAD4	chr8:19674520-19675309	K562	blood:	n/a	n/a
10	TCF12	chr8:19674485-19675303	ECC-1	luminal epithelium:	n/a	n/a
11	MXI1	chr8:19674680-19675879	H1-hESC	embryonic stem cell:	n/a	n/a
12	YY1	chr8:19674331-19675233	GM12878	blood:	n/a	chr8:19674465-19674479
13	POLR2A	chr8:19674801-19675162	PANC-1	pancreas:	n/a	n/a
14	STAT3	chr8:19673907-19675056	MCF10A-Er-Src	breast:	n/a	chr8:19674815-19674826
15	POLR2A	chr8:19674183-19676012	PBDE	blood:	n/a	n/a
16	YY1	chr8:19674325-19675284	K562	blood:	n/a	chr8:19674465-19674479
17	POLR2A	chr8:19674920-19675272	GM12891	blood:	n/a	n/a
18	SP1	chr8:19674496-19675109	H1-hESC	embryonic stem cell:	n/a	chr8:19674824-19674835
19	YY1	chr8:19674336-19675249	K562	blood:	n/a	chr8:19674465-19674479
20	EP300	chr8:19674632-19675150	H1-hESC	embryonic stem cell:	n/a	n/a
21	TAF1	chr8:19674307-19675954	ECC-1	luminal epithelium:	n/a	n/a
22	JUND	chr8:19674638-19675024	H1-hESC	embryonic stem cell:	n/a	chr8:19674876-19674890
23	GABPA	chr8:19674339-19675297	K562	blood:	n/a	chr8:19674708-19674722 chr8:19674711-19674722
24	POLR2A	chr8:19674254-19675188	SK-N-SH	brain:	n/a	n/a
25	POU2F2	chr8:19674613-19675175	GM12891	blood:	n/a	n/a
26	MAX	chr8:19674335-19675231	A549	lung:	n/a	chr8:19674517-19674527
27	MYC	chr8:19674710-19675207	HUVEC	blood vessel:	n/a	n/a
28	YY1	chr8:19674544-19675114	HCT-116	colon:	n/a	n/a
29	RFX5	chr8:19674398-19675056	GM12878	blood:	n/a	n/a
30	POLR2A	chr8:19674827-19675930	GM12891	blood:	n/a	n/a
31	POLR2A	chr8:19674687-19675298	HUVEC	blood vessel:	n/a	n/a
32	RCOR1	chr8:19674094-19675038	K562	blood:	n/a	n/a
33	MAX	chr8:19674506-19675307	MCF-7	breast:	n/a	chr8:19674517-19674527
34	MYC	chr8:19674348-19675902	Hela-S3	cervix:	n/a	chr8:19674517-19674527
35	POLR2A	chr8:19674292-19675893	MCF-7	breast:	n/a	n/a
36	MAFK	chr8:19674675-19675211	Hela-S3	cervix:	n/a	n/a
37	ELK1	chr8:19674723-19675010	K562	blood:	n/a	n/a
38	FOXM1	chr8:19674592-19675106	GM12878	blood:	n/a	n/a
39	TAF1	chr8:19674232-19675882	ECC-1	luminal epithelium:	n/a	n/a
40	STAT1	chr8:19674584-19675071	GM12878	blood:	n/a	n/a
41	POLR2A	chr8:19674781-19675875	GM12878	blood:	n/a	n/a
42	TAF1	chr8:19674325-19675292	HepG2	liver:	n/a	n/a
43	MAX	chr8:19674504-19675114	MCF-7	breast:	n/a	chr8:19674517-19674527
44	ZC3H11A	chr8:19674675-19675066	K562	blood:	n/a	n/a
45	STAT5A	chr8:19674643-19675137	GM12878	blood:	n/a	n/a
46	JUN	chr8:19674222-19676106	K562	blood:	n/a	chr8:19674876-19674890
47	MAX	chr8:19674287-19675966	GM12878	blood:	n/a	chr8:19674517-19674527
48	IRF1	chr8:19674064-19675204	K562	blood:	n/a	n/a
49	POLR2A	chr8:19674647-19675164	K562	blood:	n/a	n/a
50	POLR2A	chr8:19674231-19675966	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:19674243..19675884-chr8:19680646..19683864,3	MCF-7	breast:
2	chr5:133304170..133304850-chr8:19674192..19675155,2	HCT-116	colon:
3	chr5:134094453..134095205-chr8:19674522..19675109,2	Hela-S3	cervix:
4	chr8:19674757..19677268-chr8:19687110..19688906,2	K562	blood:
5	chr8:19674069..19678740-chr8:19703160..19710631,7	K562	blood:
6	chr8:19673492..19676303-chr8:19685537..19688131,3	MCF-7	breast:
7	chr7:100303184..100304100-chr8:19674859..19675431,2	NB4	blood:

Variant related genes	Relation type
INTS10	TF binding region
ENSG00000172336	Chromatin interaction
ENSG00000113583	Chromatin interaction
ENSG00000104613	Chromatin interaction
ENSG00000145833	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11994107	1.00[ASN][1000 genomes]
rs57952597	1.00[ASN][1000 genomes]
rs73590876	1.00[ASN][1000 genomes]
rs7836290	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7836566	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890625	chr8:19368697-19799641	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv610759	chr8:19561997-20068842	Enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv3425950	chr8:19673522-19676520	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19673600-19675800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr8:19673600-19675800	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr8:19673600-19676000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:19673800-19675400	Active TSS	HMEC	breast
5	chr8:19673800-19675600	Active TSS	Brain Germinal Matrix	brain
6	chr8:19673800-19675600	Active TSS	Fetal Brain Female	brain
7	chr8:19673800-19675800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:19673800-19675800	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr8:19673800-19675800	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr8:19673800-19675800	Active TSS	Rectal Smooth Muscle	rectum
11	chr8:19673800-19675800	Active TSS	HSMM	muscle
12	chr8:19673800-19676000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr8:19673800-19676000	Active TSS	Colonic Mucosa	Colon
14	chr8:19673800-19676000	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr8:19673800-19676200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:19673800-19676200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr8:19673800-19676200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr8:19673800-19676200	Active TSS	Brain Angular Gyrus	brain
19	chr8:19673800-19676200	Active TSS	Fetal Intestine Large	intestine
20	chr8:19673800-19676200	Active TSS	GM12878-XiMat	blood
21	chr8:19673800-19676200	Active TSS	NH-A	brain
22	chr8:19673800-19676400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr8:19673800-19676800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr8:19674000-19675400	Active TSS	Primary T cells from cord blood	blood
25	chr8:19674000-19675400	Active TSS	Cortex derived primary cultured neurospheres	brain
26	chr8:19674000-19675400	Active TSS	Fetal Muscle Trunk	muscle
27	chr8:19674000-19675400	Active TSS	Placenta Amnion	Placenta Amnion
28	chr8:19674000-19675400	Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr8:19674000-19675400	Active TSS	Stomach Smooth Muscle	stomach
30	chr8:19674000-19675600	Active TSS	Duodenum Mucosa	Duodenum
31	chr8:19674000-19675600	Active TSS	Fetal Brain Male	brain
32	chr8:19674000-19675600	Active TSS	Fetal Lung	lung
33	chr8:19674000-19675600	Active TSS	Right Ventricle	heart
34	chr8:19674000-19675600	Active TSS	Thymus	Thymus
35	chr8:19674000-19675600	Active TSS	NHEK	skin
36	chr8:19674000-19675800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr8:19674000-19675800	Active TSS	Brain Anterior Caudate	brain
38	chr8:19674000-19675800	Active TSS	Brain Cingulate Gyrus	brain
39	chr8:19674000-19675800	Active TSS	Colon Smooth Muscle	Colon
40	chr8:19674000-19675800	Active TSS	Fetal Kidney	kidney
41	chr8:19674000-19676000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr8:19674000-19676000	Active TSS	H9 Cell Line	embryonic stem cell
43	chr8:19674000-19676000	Active TSS	Aorta	Aorta
44	chr8:19674000-19676000	Active TSS	Ovary	ovary
45	chr8:19674000-19676000	Active TSS	Psoas Muscle	Psoas
46	chr8:19674000-19676200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr8:19674000-19676200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
48	chr8:19674000-19676200	Active TSS	Brain Substantia Nigra	brain
49	chr8:19674000-19676200	Active TSS	Fetal Intestine Small	intestine
50	chr8:19674000-19676200	Active TSS	A549	lung

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