Variant report

Variant	rs149059655
Chromosome Location	chr17:38220075-38220076
allele	A/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	MAX	chr17:38219135-38220824	NB4	blood:	n/a	chr17:38220648-38220659
2	MAX	chr17:38219826-38220198	K562	blood:	n/a	n/a
3	MAZ	chr17:38218841-38220159	Hela-S3	cervix:	n/a	n/a
4	RAD21	chr17:38218525-38220199	SK-N-SH	brain:	n/a	chr17:38219783-38219796 chr17:38219720-38219733 chr17:38219796-38219808
5	POLR2A	chr17:38219217-38220499	K562	blood:	n/a	n/a
6	CEBPB	chr17:38219723-38220087	IMR90	lung:	n/a	n/a
7	MAX	chr17:38218874-38220827	HepG2	liver:	n/a	chr17:38220648-38220659
8	SMARCB1	chr17:38219400-38220600	Hela-S3	cervix:	n/a	n/a
9	ZBTB7A	chr17:38218683-38220292	ECC-1	luminal epithelium:	n/a	chr17:38218854-38218868
10	CEBPB	chr17:38219308-38220120	Hela-S3	cervix:	n/a	chr17:38219394-38219405
11	CEBPB	chr17:38219814-38220110	A549	lung:	n/a	n/a
12	CEBPB	chr17:38219762-38220082	K562	blood:	n/a	n/a
13	MXI1	chr17:38218480-38222365	SK-N-SH	brain:	n/a	n/a
14	MYC	chr17:38219571-38220120	NB4	blood:	n/a	n/a
15	FOSL2	chr17:38219751-38220239	A549	lung:	n/a	chr17:38219870-38219879
16	POLR2A	chr17:38219109-38220813	HL-60	blood:	n/a	n/a
17	CEBPB	chr17:38219759-38220076	A549	lung:	n/a	n/a
18	POU2F2	chr17:38219773-38220081	GM12891	blood:	n/a	chr17:38220003-38220015 chr17:38219862-38219874
19	ZBTB7A	chr17:38218629-38220247	ECC-1	luminal epithelium:	n/a	chr17:38218854-38218868
20	POLR2A	chr17:38219047-38220132	H1-neurons	neurons:	n/a	n/a
21	CEBPB	chr17:38219322-38220082	HepG2	liver:	n/a	chr17:38219394-38219405
22	CEBPB	chr17:38219321-38220086	HepG2	liver:	n/a	chr17:38219394-38219405
23	SMC3	chr17:38218994-38220197	SK-N-SH	brain:	n/a	n/a
24	MAZ	chr17:38218571-38220427	K562	blood:	n/a	n/a
25	POLR2A	chr17:38219285-38220180	HL-60	blood:	n/a	n/a
26	POLR2A	chr17:38218951-38220989	H1-neurons	neurons:	n/a	n/a
27	MAX	chr17:38219045-38221225	K562	blood:	n/a	chr17:38220648-38220659 chr17:38221075-38221085
28	MXI1	chr17:38218887-38222666	IMR90	lung:	n/a	n/a
29	MAZ	chr17:38218422-38220238	IMR90	lung:	n/a	n/a
30	TCF12	chr17:38218605-38222154	A549	lung:	n/a	chr17:38221945-38221952
31	POLR2A	chr17:38219076-38220103	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:38218404..38220452-chr17:38276626..38279762,4	K562	blood:
2	chr17:38218404..38220452-chr17:38276626..38279762,3	K562	blood:
3	chr17:38219115..38220777-chr17:38255846..38258790,2	MCF-7	breast:
4	chr17:38219039..38222172-chr17:38223812..38229284,8	MCF-7	breast:
5	chr17:38220009..38224777-chr17:38226169..38228893,5	MCF-7	breast:
6	chr17:38210481..38212413-chr17:38218576..38220480,2	MCF-7	breast:
7	chr17:38219845..38222489-chr17:38296563..38298263,2	MCF-7	breast:
8	chr17:38219532..38222317-chr17:38232085..38234272,2	MCF-7	breast:
9	chr17:38216722..38220271-chr17:38254476..38257952,5	K562	blood:

Variant related genes	Relation type
MED24	TF binding region
ENSG00000126368	Chromatin interaction
ENSG00000108349	Chromatin interaction
ENSG00000008838	Chromatin interaction
ENSG00000126351	Chromatin interaction
ENSG00000188895	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv908221	chr17:38216522-38289003	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	esv3393448	chr17:38218451-38220999	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 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	chr17:38218400-38220200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr17:38218400-38220200	Active TSS	Brain Substantia Nigra	brain
3	chr17:38218400-38220400	Active TSS	H9 Cell Line	embryonic stem cell
4	chr17:38218400-38220800	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr17:38218600-38220200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr17:38218600-38220200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr17:38218600-38220200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr17:38218600-38220200	Active TSS	Psoas Muscle	Psoas
9	chr17:38218600-38220400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr17:38218600-38220400	Active TSS	Right Atrium	heart
11	chr17:38218600-38220400	Active TSS	HSMMtube	muscle
12	chr17:38218600-38221000	Active TSS	Aorta	Aorta
13	chr17:38218600-38222200	Active TSS	Ovary	ovary
14	chr17:38218800-38220200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr17:38218800-38220200	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr17:38218800-38220200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr17:38218800-38220200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr17:38218800-38220200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
19	chr17:38218800-38220200	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr17:38218800-38220200	Active TSS	Primary T cells from cord blood	blood
21	chr17:38218800-38220200	Active TSS	Primary T helper naive cells from peripheral blood	blood
22	chr17:38218800-38220200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
23	chr17:38218800-38220200	Active TSS	Muscle Satellite Cultured Cells	--
24	chr17:38218800-38220200	Active TSS	Brain Angular Gyrus	brain
25	chr17:38218800-38220200	Active TSS	Brain Anterior Caudate	brain
26	chr17:38218800-38220200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr17:38218800-38220200	Active TSS	Colon Smooth Muscle	Colon
28	chr17:38218800-38220200	Active TSS	Duodenum Mucosa	Duodenum
29	chr17:38218800-38220200	Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr17:38218800-38220200	Active TSS	Fetal Brain Female	brain
31	chr17:38218800-38220200	Active TSS	Gastric	stomach
32	chr17:38218800-38220200	Active TSS	Rectal Smooth Muscle	rectum
33	chr17:38218800-38220200	Active TSS	Small Intestine	intestine
34	chr17:38218800-38220200	Active TSS	NHDF-Ad	bronchial
35	chr17:38218800-38220400	Active TSS	Brain Cingulate Gyrus	brain
36	chr17:38218800-38220400	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr17:38218800-38220400	Active TSS	Fetal Intestine Large	intestine
38	chr17:38218800-38220400	Active TSS	Fetal Kidney	kidney
39	chr17:38218800-38220400	Active TSS	Fetal Lung	lung
40	chr17:38218800-38220400	Active TSS	Left Ventricle	heart
41	chr17:38218800-38220400	Active TSS	Sigmoid Colon	Sigmoid Colon
42	chr17:38219000-38220200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr17:38219000-38220200	Active TSS	Rectal Mucosa Donor 29	rectum
44	chr17:38219000-38220200	Active TSS	Stomach Smooth Muscle	stomach
45	chr17:38219000-38220200	Active TSS	NHLF	lung
46	chr17:38219000-38220400	Active TSS	Thymus	Thymus
47	chr17:38219200-38220200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
48	chr17:38219400-38220200	Active TSS	Fetal Heart	heart
49	chr17:38219400-38220600	Flanking Active TSS	Primary B cells from cord blood	blood
50	chr17:38219400-38220600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin

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