Variant report

Variant	rs556109692
Chromosome Location	chr17:16944818-16944819
allele	A/C
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	MAZ	chr17:16944269-16946136	IMR90	lung:	n/a	n/a
2	POLR2A	chr17:16944569-16944838	K562	blood:	n/a	n/a
3	MAFK	chr17:16944519-16945546	IMR90	lung:	n/a	chr17:16945082-16945097
4	JUND	chr17:16944545-16945019	A549	lung:	n/a	n/a
5	POLR2A	chr17:16944366-16945696	U87	brain:	n/a	n/a
6	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
7	MXI1	chr17:16944242-16948097	SK-N-SH	brain:	n/a	n/a
8	MAX	chr17:16944484-16944935	SK-N-SH	brain:	n/a	n/a
9	FOSL2	chr17:16944231-16945608	A549	lung:	n/a	chr17:16945166-16945176 chr17:16945166-16945176
10	POLR2A	chr17:16944360-16945696	U87	brain:	n/a	n/a
11	MAX	chr17:16944474-16944900	K562	blood:	n/a	n/a
12	MAX	chr17:16944412-16944874	ECC-1	luminal epithelium:	n/a	n/a
13	MXI1	chr17:16944131-16947555	IMR90	lung:	n/a	n/a
14	HCFC1	chr17:16944815-16945951	Hela-S3	cervix:	n/a	n/a
15	MAX	chr17:16944284-16944997	HCT-116	colon:	n/a	n/a
16	MXI1	chr17:16944456-16945709	H1-hESC	embryonic stem cell:	n/a	n/a
17	MXI1	chr17:16944369-16945837	HepG2	liver:	n/a	n/a
18	REST	chr17:16944656-16945518	A549	lung:	n/a	n/a
19	MXI1	chr17:16944558-16945715	Hela-S3	cervix:	n/a	n/a
20	MAFK	chr17:16944623-16945486	K562	blood:	n/a	chr17:16945082-16945097
21	MAFF	chr17:16944753-16945320	HepG2	liver:	n/a	chr17:16945081-16945099
22	MYC	chr17:16944515-16944870	K562	blood:	n/a	n/a
23	JUND	chr17:16944581-16945727	K562	blood:	n/a	chr17:16945166-16945176 chr17:16945166-16945176
24	BHLHE40	chr17:16944614-16944869	K562	blood:	n/a	n/a
25	MAX	chr17:16944404-16945753	K562	blood:	n/a	n/a
26	MAX	chr17:16944292-16945900	HCT-116	colon:	n/a	n/a
27	REST	chr17:16944231-16945821	H1-neurons	neurons:	n/a	n/a
28	SIN3AK20	chr17:16944807-16945243	PFSK-1	brain:	n/a	n/a
29	FOS	chr17:16944682-16945328	MCF10A-Er-Src	breast:	n/a	chr17:16945166-16945176 chr17:16945166-16945176
30	MAX	chr17:16944311-16944938	HepG2	liver:	n/a	n/a
31	ZC3H11A	chr17:16944760-16944852	K562	blood:	n/a	n/a
32	SIN3AK20	chr17:16944411-16945643	A549	lung:	n/a	n/a
33	MAX	chr17:16944327-16945838	A549	lung:	n/a	n/a
34	MAX	chr17:16944541-16945748	Hela-S3	cervix:	n/a	n/a
35	SIX5	chr17:16944709-16945657	A549	lung:	n/a	n/a
36	KAP1	chr17:16944433-16945448	HEK293	kidney:	n/a	n/a
37	MAX	chr17:16944232-16945904	A549	lung:	n/a	n/a
38	SIN3AK20	chr17:16944466-16944822	H1-hESC	embryonic stem cell:	n/a	n/a
39	MYC	chr17:16944541-16945319	MCF10A-Er-Src	breast:	n/a	n/a
40	ZNF263	chr17:16944536-16945520	HEK293-T-REx	kidney:	n/a	chr17:16945232-16945253 chr17:16944846-16944855
41	RCOR1	chr17:16944564-16945702	K562	blood:	n/a	n/a
42	SIN3AK20	chr17:16944475-16944900	SK-N-SH	brain:	n/a	n/a
43	ZNF143	chr17:16944736-16945751	Hela-S3	cervix:	n/a	chr17:16945550-16945560
44	PBX3	chr17:16944424-16945946	SK-N-SH	brain:	n/a	chr17:16945663-16945672 chr17:16945667-16945687
45	MAX	chr17:16944479-16944871	HepG2	liver:	n/a	n/a
46	MAFF	chr17:16944710-16945221	K562	blood:	n/a	chr17:16945081-16945099
47	MAFK	chr17:16944755-16945539	HepG2	liver:	n/a	chr17:16945082-16945097
48	MAX	chr17:16944524-16944849	K562	blood:	n/a	n/a
49	MAX	chr17:16944254-16944968	HepG2	liver:	n/a	n/a
50	SIN3AK20	chr17:16944441-16945702	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	chr17:16917707..16920531-chr17:16944662..16947361,2	MCF-7	breast:

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

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16935800-16945200	Weak transcription	Aorta	Aorta
2	chr17:16940600-16945000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr17:16941800-16945000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr17:16942000-16945000	Enhancers	Fetal Intestine Large	intestine
5	chr17:16942600-16945000	Enhancers	Fetal Intestine Small	intestine
6	chr17:16943200-16945000	Enhancers	Fetal Muscle Trunk	muscle
7	chr17:16943200-16945000	Enhancers	Fetal Muscle Leg	muscle
8	chr17:16943400-16945000	Enhancers	Fetal Brain Male	brain
9	chr17:16943600-16945000	Weak transcription	Ovary	ovary
10	chr17:16944200-16945000	Enhancers	HMEC	breast
11	chr17:16944200-16945000	Enhancers	NHDF-Ad	bronchial
12	chr17:16944200-16945200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr17:16944200-16945200	Enhancers	Placenta	Placenta
14	chr17:16944200-16945400	Flanking Active TSS	HSMM	muscle
15	chr17:16944400-16945000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr17:16944400-16945000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr17:16944400-16945000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr17:16944400-16945000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr17:16944400-16945000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
20	chr17:16944400-16945000	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr17:16944400-16945000	Enhancers	Brain Substantia Nigra	brain
22	chr17:16944400-16945000	Enhancers	Right Ventricle	heart
23	chr17:16944400-16945000	Enhancers	Stomach Mucosa	stomach
24	chr17:16944400-16945200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr17:16944400-16945200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr17:16944400-16945200	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr17:16944400-16945200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr17:16944400-16945200	Flanking Active TSS	Fetal Brain Female	brain
29	chr17:16944400-16945200	Enhancers	Fetal Stomach	stomach
30	chr17:16944400-16945200	Enhancers	Fetal Thymus	thymus
31	chr17:16944400-16945200	Enhancers	Placenta Amnion	Placenta Amnion
32	chr17:16944400-16945400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
33	chr17:16944400-16945400	Enhancers	Fetal Heart	heart
34	chr17:16944400-16945400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr17:16944400-16945400	Enhancers	Spleen	Spleen
36	chr17:16944400-16945400	Flanking Active TSS	A549	lung
37	chr17:16944400-16945400	Flanking Active TSS	Hela-S3	cervix
38	chr17:16944400-16945400	Flanking Active TSS	HSMMtube	muscle
39	chr17:16944400-16945600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr17:16944400-16945600	Flanking Active TSS	Duodenum Mucosa	Duodenum
41	chr17:16944600-16945000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr17:16944600-16945000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
43	chr17:16944600-16945000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr17:16944600-16945000	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr17:16944600-16945000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr17:16944600-16945000	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr17:16944600-16945000	Enhancers	Thymus	Thymus
48	chr17:16944600-16945200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr17:16944600-16945200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr17:16944600-16945200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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