Variant report

Variant	rs552349983
Chromosome Location	chr17:16945261-16945262
allele	C/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	CBX3	chr17:16945009-16945376	K562	blood:	n/a	n/a
2	RUNX3	chr17:16945197-16945667	GM12878	blood:	n/a	n/a
3	MAZ	chr17:16944269-16946136	IMR90	lung:	n/a	n/a
4	MAFK	chr17:16944519-16945546	IMR90	lung:	n/a	chr17:16945082-16945097
5	ZNF143	chr17:16945082-16945753	K562	blood:	n/a	chr17:16945550-16945560
6	FOS	chr17:16945013-16945326	MCF10A-Er-Src	breast:	n/a	chr17:16945166-16945176 chr17:16945166-16945176
7	SP1	chr17:16945259-16945833	H1-hESC	embryonic stem cell:	n/a	chr17:16945700-16945712 chr17:16945702-16945711 chr17:16945459-16945473 chr17:16945700-16945712 chr17:16945701-16945710 chr17:16945606-16945615 chr17:16945701-16945710 chr17:16945610-16945631 chr17:16945605-16945614 chr17:16945604-16945616 chr17:16945604-16945616
8	POLR2A	chr17:16944366-16945696	U87	brain:	n/a	n/a
9	NFYB	chr17:16945012-16945803	Hela-S3	cervix:	n/a	chr17:16945619-16945634 chr17:16945661-16945675 chr17:16945660-16945675 chr17:16945621-16945633 chr17:16945660-16945675
10	MAX	chr17:16945036-16946121	HepG2	liver:	n/a	n/a
11	RCOR1	chr17:16945075-16945517	K562	blood:	n/a	n/a
12	SP1	chr17:16944243-16945770	A549	lung:	n/a	chr17:16945700-16945712 chr17:16945702-16945711 chr17:16945459-16945473 chr17:16945700-16945712 chr17:16945701-16945710 chr17:16944956-16944970 chr17:16945606-16945615 chr17:16945701-16945710 chr17:16945610-16945631 chr17:16945605-16945614 chr17:16945604-16945616 chr17:16945604-16945616
13	MXI1	chr17:16944242-16948097	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr17:16944949-16945729	H1-neurons	neurons:	n/a	n/a
15	FOSL2	chr17:16944231-16945608	A549	lung:	n/a	chr17:16945166-16945176 chr17:16945166-16945176
16	MAX	chr17:16945118-16945872	MCF-7	breast:	n/a	n/a
17	POLR2A	chr17:16944360-16945696	U87	brain:	n/a	n/a
18	ELF1	chr17:16945255-16945862	GM12878	blood:	n/a	chr17:16945483-16945495 chr17:16945508-16945520
19	MAX	chr17:16945032-16945464	H1-hESC	embryonic stem cell:	n/a	n/a
20	MXI1	chr17:16944131-16947555	IMR90	lung:	n/a	n/a
21	HCFC1	chr17:16944815-16945951	Hela-S3	cervix:	n/a	n/a
22	RCOR1	chr17:16944942-16945734	IMR90	lung:	n/a	n/a
23	E2F6	chr17:16945256-16946203	K562	blood:	n/a	chr17:16945647-16945661 chr17:16945946-16945957 chr17:16945402-16945414 chr17:16945549-16945559 chr17:16945401-16945416
24	PBX3	chr17:16945247-16945915	A549	lung:	n/a	chr17:16945663-16945672 chr17:16945667-16945687
25	MAX	chr17:16945024-16945898	HepG2	liver:	n/a	n/a
26	ZKSCAN1	chr17:16945122-16945715	Hela-S3	cervix:	n/a	n/a
27	RUNX3	chr17:16945005-16945738	GM12878	blood:	n/a	n/a
28	MXI1	chr17:16944456-16945709	H1-hESC	embryonic stem cell:	n/a	n/a
29	MAX	chr17:16945251-16945753	H1-hESC	embryonic stem cell:	n/a	n/a
30	RCOR1	chr17:16945054-16945641	Hela-S3	cervix:	n/a	n/a
31	MXI1	chr17:16944369-16945837	HepG2	liver:	n/a	n/a
32	REST	chr17:16944656-16945518	A549	lung:	n/a	n/a
33	MXI1	chr17:16944558-16945715	Hela-S3	cervix:	n/a	n/a
34	PBX3	chr17:16945256-16945833	A549	lung:	n/a	chr17:16945663-16945672 chr17:16945667-16945687
35	MAFK	chr17:16944623-16945486	K562	blood:	n/a	chr17:16945082-16945097
36	MYC	chr17:16945258-16945672	K562	blood:	n/a	n/a
37	MTA3	chr17:16944950-16945559	GM12878	blood:	n/a	n/a
38	CHD2	chr17:16945086-16945870	Hela-S3	cervix:	n/a	n/a
39	MAFF	chr17:16944753-16945320	HepG2	liver:	n/a	chr17:16945081-16945099
40	EGR1	chr17:16945205-16945664	K562	blood:	n/a	chr17:16945400-16945410 chr17:16945471-16945485 chr17:16945607-16945620 chr17:16945397-16945407
41	TCF3	chr17:16945242-16945701	GM12878	blood:	n/a	n/a
42	MAX	chr17:16945248-16945739	K562	blood:	n/a	n/a
43	JUND	chr17:16944581-16945727	K562	blood:	n/a	chr17:16945166-16945176 chr17:16945166-16945176
44	TBL1XR1	chr17:16945162-16945646	K562	blood:	n/a	n/a
45	YY1	chr17:16945161-16945673	GM12878	blood:	n/a	chr17:16945549-16945563
46	POLR2A	chr17:16945131-16945698	HCT-116	colon:	n/a	n/a
47	CHD2	chr17:16945200-16945824	GM12878	blood:	n/a	n/a
48	ZBTB7A	chr17:16945180-16945737	ECC-1	luminal epithelium:	n/a	n/a
49	MAX	chr17:16944404-16945753	K562	blood:	n/a	n/a
50	REST	chr17:16945145-16945546	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:16943176..16945630-chr17:17102978..17105800,2	K562	blood:
2	chr17:16944536..16947207-chr17:17109103..17111480,2	MCF-7	breast:
3	chr17:16944416..16947050-chr17:16979219..16983384,3	MCF-7	breast:
4	chr17:16944952..16946961-chr17:17072835..17074607,2	K562	blood:
5	chr17:16917707..16920531-chr17:16944662..16947361,2	MCF-7	breast:

Variant related genes	Relation type
MPRIP	TF binding region
ENSG00000225442	Chromatin interaction
ENSG00000179598	Chromatin interaction
ENSG00000260328	Chromatin interaction
ENSG00000206859	Chromatin interaction
ENSG00000133030	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	nsv543231	chr17:16926227-16950644	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv3355439	chr17:16944752-16947600	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	esv3341315	chr17:16945077-16947125	Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 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	chr17:16944200-16945400	Flanking Active TSS	HSMM	muscle
2	chr17:16944400-16945400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
3	chr17:16944400-16945400	Enhancers	Fetal Heart	heart
4	chr17:16944400-16945400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
5	chr17:16944400-16945400	Enhancers	Spleen	Spleen
6	chr17:16944400-16945400	Flanking Active TSS	A549	lung
7	chr17:16944400-16945400	Flanking Active TSS	Hela-S3	cervix
8	chr17:16944400-16945400	Flanking Active TSS	HSMMtube	muscle
9	chr17:16944400-16945600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr17:16944400-16945600	Flanking Active TSS	Duodenum Mucosa	Duodenum
11	chr17:16944600-16945400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr17:16944600-16945400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr17:16944600-16945400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr17:16944600-16945400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr17:16944600-16945400	Flanking Active TSS	Liver	Liver
16	chr17:16944600-16945400	Flanking Active TSS	Brain Hippocampus Middle	brain
17	chr17:16944600-16945400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr17:16944600-16945400	Flanking Active TSS	Colonic Mucosa	Colon
19	chr17:16944600-16945400	Flanking Active TSS	Fetal Lung	lung
20	chr17:16944600-16945400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
21	chr17:16944600-16945400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
22	chr17:16944600-16945400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr17:16944600-16945400	Flanking Active TSS	Dnd41	blood
24	chr17:16944600-16945400	Flanking Active TSS	K562	blood
25	chr17:16944600-16945600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr17:16944800-16945400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
27	chr17:16944800-16945400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr17:16944800-16945400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
29	chr17:16944800-16945400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
30	chr17:16944800-16945400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr17:16944800-16945400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr17:16944800-16945400	Flanking Active TSS	Brain Angular Gyrus	brain
33	chr17:16944800-16945400	Flanking Active TSS	Brain Cingulate Gyrus	brain
34	chr17:16944800-16945400	Flanking Active TSS	Brain Germinal Matrix	brain
35	chr17:16944800-16945400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
36	chr17:16944800-16945400	Flanking Active TSS	Colon Smooth Muscle	Colon
37	chr17:16944800-16945400	Flanking Bivalent TSS/Enh	HepG2	liver
38	chr17:16944800-16945400	Flanking Active TSS	NH-A	brain
39	chr17:16944800-16945400	Flanking Active TSS	NHEK	skin
40	chr17:16944800-16945400	Flanking Active TSS	NHLF	lung
41	chr17:16944800-16945400	Flanking Active TSS	Osteobl	bone
42	chr17:16944800-16945600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr17:16944800-16945600	Flanking Active TSS	Adipose Nuclei	Adipose
44	chr17:16944800-16945600	Flanking Active TSS	Stomach Smooth Muscle	stomach
45	chr17:16944800-16945600	Flanking Active TSS	GM12878-XiMat	blood
46	chr17:16945000-16945400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
47	chr17:16945000-16945400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr17:16945000-16945400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr17:16945000-16945400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr17:16945000-16945400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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