Variant report

Variant	rs550402591
Chromosome Location	chr17:45772265-45772266
allele	-/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	POLR2A	chr17:45772089-45773361	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr17:45771032-45773160	K562	blood:	n/a	n/a
3	POLR2A	chr17:45771031-45773121	NB4	blood:	n/a	n/a
4	CTCF	chr17:45772260-45772410	AG04449	skin:	n/a	n/a
5	POLR2A	chr17:45772104-45773184	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr17:45772099-45773229	HL-60	blood:	n/a	n/a
7	MTA3	chr17:45772188-45772903	GM12878	blood:	n/a	n/a
8	USF1	chr17:45772085-45772782	SK-N-SH	brain:	n/a	chr17:45772427-45772436 chr17:45772427-45772436 chr17:45772425-45772438 chr17:45772428-45772437
9	CTBP2	chr17:45771527-45773901	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr17:45772136-45772690	GM12878	blood:	n/a	n/a
11	USF1	chr17:45772256-45772555	H1-hESC	embryonic stem cell:	n/a	chr17:45772427-45772436 chr17:45772427-45772436 chr17:45772425-45772438 chr17:45772428-45772437
12	USF1	chr17:45772082-45772701	SK-N-SH_RA	brain:	n/a	chr17:45772427-45772436 chr17:45772427-45772436 chr17:45772425-45772438 chr17:45772428-45772437
13	REST	chr17:45772244-45772594	GM12878	blood:	n/a	chr17:45772405-45772414 chr17:45772364-45772382 chr17:45772366-45772379 chr17:45772348-45772358
14	USF1	chr17:45772207-45772584	K562	blood:	n/a	chr17:45772427-45772436 chr17:45772427-45772436 chr17:45772425-45772438 chr17:45772428-45772437
15	BHLHE40	chr17:45771791-45772796	GM12878	blood:	n/a	chr17:45772427-45772436 chr17:45772427-45772436 chr17:45772425-45772438 chr17:45772428-45772437
16	POLR2A	chr17:45772124-45773191	SK-N-MC	brain:	n/a	n/a
17	REST	chr17:45771333-45772395	H1-neurons	neurons:	n/a	chr17:45771977-45771990 chr17:45772364-45772382 chr17:45772366-45772379 chr17:45771974-45771994 chr17:45771982-45771992 chr17:45772348-45772358 chr17:45772042-45772051
18	E2F6	chr17:45772259-45772682	K562	blood:	n/a	n/a
19	USF1	chr17:45772131-45772792	ECC-1	luminal epithelium:	n/a	chr17:45772427-45772436 chr17:45772427-45772436 chr17:45772425-45772438 chr17:45772428-45772437
20	ZBTB7A	chr17:45771392-45772267	ECC-1	luminal epithelium:	n/a	chr17:45771619-45771628
21	USF1	chr17:45772185-45772709	ECC-1	luminal epithelium:	n/a	chr17:45772427-45772436 chr17:45772427-45772436 chr17:45772425-45772438 chr17:45772428-45772437
22	SIN3AK20	chr17:45772262-45772550	SK-N-SH	brain:	n/a	n/a
23	USF1	chr17:45772228-45772632	K562	blood:	n/a	chr17:45772427-45772436 chr17:45772427-45772436 chr17:45772425-45772438 chr17:45772428-45772437
24	PAX5	chr17:45772247-45772552	GM12892	blood:	n/a	n/a
25	SIN3AK20	chr17:45772076-45772553	PANC-1	pancreas:	n/a	n/a
26	MAX	chr17:45770419-45773221	NB4	blood:	n/a	chr17:45772422-45772441 chr17:45772679-45772688 chr17:45772253-45772263 chr17:45771275-45771284 chr17:45771274-45771284 chr17:45772436-45772452 chr17:45772427-45772436 chr17:45772077-45772087 chr17:45771275-45771284 chr17:45771275-45771284
27	MAZ	chr17:45771109-45773117	K562	blood:	n/a	chr17:45772422-45772441 chr17:45772679-45772688 chr17:45772253-45772263 chr17:45771275-45771284 chr17:45771274-45771284 chr17:45772436-45772452 chr17:45772427-45772436 chr17:45772077-45772087 chr17:45771275-45771284 chr17:45771275-45771284
28	POLR2A	chr17:45771161-45772287	HUVEC	blood vessel:	n/a	n/a
29	NRF1	chr17:45772148-45772811	SK-N-SH	brain:	n/a	n/a
30	MYC	chr17:45770475-45773196	NB4	blood:	n/a	chr17:45772422-45772441 chr17:45772679-45772688 chr17:45772253-45772263 chr17:45771275-45771284 chr17:45771274-45771284 chr17:45772436-45772452 chr17:45772427-45772436 chr17:45772077-45772087 chr17:45771275-45771284 chr17:45771275-45771284
31	POLR2A	chr17:45771055-45772383	H1-neurons	neurons:	n/a	n/a
32	MAZ	chr17:45770401-45773103	IMR90	lung:	n/a	chr17:45772422-45772441 chr17:45772679-45772688 chr17:45772253-45772263 chr17:45771275-45771284 chr17:45771274-45771284 chr17:45772436-45772452 chr17:45772427-45772436 chr17:45772077-45772087 chr17:45771275-45771284 chr17:45771275-45771284
33	POLR2A	chr17:45772199-45772511	HCT-116	colon:	n/a	n/a
34	POLR2A	chr17:45772181-45772673	MCF-7	breast:	n/a	n/a
35	BHLHE40	chr17:45772247-45773034	K562	blood:	n/a	chr17:45772427-45772436 chr17:45772427-45772436 chr17:45772425-45772438 chr17:45772428-45772437
36	BHLHE40	chr17:45772262-45772643	HepG2	liver:	n/a	chr17:45772427-45772436 chr17:45772427-45772436 chr17:45772425-45772438 chr17:45772428-45772437
37	POLR2A	chr17:45772253-45772640	GM12878	blood:	n/a	n/a
38	ELF1	chr17:45772207-45773095	GM12878	blood:	n/a	chr17:45772250-45772262 chr17:45772891-45772904
39	POLR2A	chr17:45770562-45773861	SK-N-MC	brain:	n/a	n/a
40	POLR2A	chr17:45772247-45772631	ECC-1	luminal epithelium:	n/a	n/a
41	EGR1	chr17:45772251-45772633	ECC-1	luminal epithelium:	n/a	chr17:45772457-45772470 chr17:45772255-45772268 chr17:45772471-45772480 chr17:45772252-45772262
42	MYC	chr17:45772092-45772778	HUVEC	blood vessel:	n/a	chr17:45772422-45772441 chr17:45772679-45772688 chr17:45772253-45772263 chr17:45772436-45772452 chr17:45772427-45772436
43	MAX	chr17:45772081-45772814	SK-N-SH	brain:	n/a	chr17:45772422-45772441 chr17:45772679-45772688 chr17:45772253-45772263 chr17:45772436-45772452 chr17:45772427-45772436
44	MXI1	chr17:45768997-45773036	SK-N-SH	brain:	n/a	chr17:45771274-45771283 chr17:45771276-45771285
45	USF2	chr17:45772262-45772628	GM12878	blood:	n/a	chr17:45772427-45772436 chr17:45772427-45772436 chr17:45772425-45772438 chr17:45772428-45772437
46	SIN3A	chr17:45770265-45773476	H1-hESC	embryonic stem cell:	n/a	chr17:45771975-45771986 chr17:45771727-45771738 chr17:45771457-45771468 chr17:45771983-45771992 chr17:45773417-45773427 chr17:45773263-45773274 chr17:45771554-45771562 chr17:45773413-45773426
47	USF1	chr17:45772213-45772581	SK-N-SH_RA	brain:	n/a	chr17:45772427-45772436 chr17:45772427-45772436 chr17:45772425-45772438 chr17:45772428-45772437
48	POLR2A	chr17:45771069-45773303	HL-60	blood:	n/a	n/a
49	PAX5	chr17:45772243-45772652	GM12878	blood:	n/a	n/a
50	USF1	chr17:45772142-45772676	SK-N-SH	brain:	n/a	chr17:45772427-45772436 chr17:45772427-45772436 chr17:45772425-45772438 chr17:45772428-45772437

No.	Distal block	Cell Line	Cell type
1	chr17:45725675..45729413-chr17:45768882..45774493,5	K562	blood:
2	chr17:45724693..45730044-chr17:45766323..45778247,15	K562	blood:
3	chr17:45768574..45772572-chr17:48939145..48944059,6	MCF-7	breast:
4	chr17:45748954..45758231-chr17:45766475..45774270,24	MCF-7	breast:
5	chr17:45744847..45747701-chr17:45770377..45772396,2	MCF-7	breast:
6	chr17:45770024..45772308-chr17:49229388..49231446,2	MCF-7	breast:
7	chr17:45759177..45766275-chr17:45767435..45773662,12	K562	blood:
8	chr17:45751758..45755455-chr17:45769353..45774872,5	MCF-7	breast:
9	chr17:45769286..45774957-chr17:48935664..48947128,23	MCF-7	breast:
10	chr17:45725833..45728916-chr17:45770004..45772680,3	MCF-7	breast:
11	chr17:45770755..45772966-chr17:48944233..48946026,2	MCF-7	breast:
12	chr17:45771011..45773166-chr17:45884072..45886713,2	MCF-7	breast:

Variant related genes	Relation type
TBKBP1	TF binding region
ENSG00000243678	Chromatin interaction
ENSG00000263766	Chromatin interaction
ENSG00000239672	Chromatin interaction
ENSG00000229980	Chromatin interaction
ENSG00000141232	Chromatin interaction
ENSG00000264558	Chromatin interaction
ENSG00000006025	Chromatin interaction
ENSG00000011052	Chromatin interaction
ENSG00000108424	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv498122	chr17:45763853-46064327	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv908571	chr17:45765249-45821510	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
4	esv3407918	chr17:45770178-45772726	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
5	esv3342398	chr17:45770478-45773326	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
6	esv3403096	chr17:45770503-45773351	Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
7	nsv9570	chr17:45770873-45779791	Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45770600-45773400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr17:45770600-45773400	Active TSS	Lung	lung
3	chr17:45770800-45772400	Active TSS	H1 Cell Line	embryonic stem cell
4	chr17:45770800-45772400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr17:45770800-45772400	Active TSS	Brain Angular Gyrus	brain
6	chr17:45770800-45772400	Active TSS	Esophagus	oesophagus
7	chr17:45770800-45772400	Active TSS	Pancreas	Pancrea
8	chr17:45770800-45772400	Active TSS	Right Ventricle	heart
9	chr17:45770800-45772400	Active TSS	NHLF	lung
10	chr17:45770800-45772800	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr17:45770800-45773200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr17:45770800-45773200	Active TSS	Rectal Smooth Muscle	rectum
13	chr17:45770800-45773400	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr17:45770800-45773400	Active TSS	Ovary	ovary
15	chr17:45770800-45773600	Active TSS	H9 Cell Line	embryonic stem cell
16	chr17:45770800-45773600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr17:45770800-45774000	Active TSS	Right Atrium	heart
18	chr17:45770800-45774400	Active TSS	Left Ventricle	heart
19	chr17:45771000-45772400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr17:45771000-45772400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr17:45771000-45772400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr17:45771000-45772400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr17:45771000-45772400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr17:45771000-45772400	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr17:45771000-45772400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
26	chr17:45771000-45772400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr17:45771000-45772400	Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr17:45771000-45772400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
29	chr17:45771000-45772400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr17:45771000-45772400	Active TSS	Aorta	Aorta
31	chr17:45771000-45772400	Active TSS	Brain Anterior Caudate	brain
32	chr17:45771000-45772400	Active TSS	Brain Cingulate Gyrus	brain
33	chr17:45771000-45772400	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr17:45771000-45772400	Active TSS	Brain Substantia Nigra	brain
35	chr17:45771000-45772400	Active TSS	Fetal Brain Female	brain
36	chr17:45771000-45772400	Active TSS	Fetal Intestine Large	intestine
37	chr17:45771000-45772400	Active TSS	Fetal Muscle Trunk	muscle
38	chr17:45771000-45772400	Active TSS	Fetal Stomach	stomach
39	chr17:45771000-45772400	Active TSS	Gastric	stomach
40	chr17:45771000-45772400	Active TSS	Placenta Amnion	Placenta Amnion
41	chr17:45771000-45772400	Active TSS	Rectal Mucosa Donor 31	rectum
42	chr17:45771000-45772400	Active TSS	Sigmoid Colon	Sigmoid Colon
43	chr17:45771000-45772400	Active TSS	GM12878-XiMat	blood
44	chr17:45771000-45772400	Active TSS	HSMM	muscle
45	chr17:45771000-45772400	Active TSS	HSMMtube	muscle
46	chr17:45771000-45772400	Active TSS	K562	blood
47	chr17:45771000-45772400	Active TSS	NHDF-Ad	bronchial
48	chr17:45771000-45772400	Active TSS	Osteobl	bone
49	chr17:45771000-45772600	Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr17:45771000-45772600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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