Variant report

Variant	rs566052082
Chromosome Location	chr17:38375687-38375688
allele	C/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	chr17:38374978-38375814	U87	brain:	n/a	n/a
2	ZBTB7A	chr17:38375392-38376195	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr17:38375175-38375820	HUVEC	blood vessel:	n/a	n/a
4	YY1	chr17:38374925-38375733	SK-N-SH_RA	brain:	n/a	chr17:38375550-38375572 chr17:38375550-38375560 chr17:38375422-38375444
5	POLR2A	chr17:38374600-38375848	SK-N-SH	brain:	n/a	n/a
6	MAZ	chr17:38375031-38376279	K562	blood:	n/a	chr17:38375071-38375080 chr17:38375753-38375763 chr17:38375075-38375084
7	TAF1	chr17:38374753-38376274	H1-neurons	neurons:	n/a	n/a
8	TAF1	chr17:38375330-38375736	GM12878	blood:	n/a	n/a
9	POLR2A	chr17:38375158-38375829	K562	blood:	n/a	n/a
10	ETS1	chr17:38374934-38375875	A549	lung:	n/a	n/a
11	POLR2A	chr17:38375217-38375820	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr17:38375257-38375790	ECC-1	luminal epithelium:	n/a	n/a
13	POLR2A	chr17:38375493-38375801	A549	lung:	n/a	n/a
14	EP300	chr17:38374871-38376028	ECC-1	luminal epithelium:	n/a	chr17:38375530-38375544
15	MAX	chr17:38375272-38375858	K562	blood:	n/a	chr17:38375753-38375763
16	EP300	chr17:38375281-38375816	H1-hESC	embryonic stem cell:	n/a	chr17:38375530-38375544
17	NR2F2	chr17:38375495-38375839	MCF-7	breast:	n/a	n/a
18	POLR2A	chr17:38375201-38376404	Hela-S3	cervix:	n/a	n/a
19	MYBL2	chr17:38374761-38375867	HepG2	liver:	n/a	n/a
20	YY1	chr17:38375246-38375687	GM12891	blood:	n/a	chr17:38375550-38375572 chr17:38375550-38375560 chr17:38375422-38375444
21	TAF1	chr17:38374805-38376284	ECC-1	luminal epithelium:	n/a	n/a
22	POLR2A	chr17:38375281-38375847	GM12878	blood:	n/a	n/a
23	TEAD4	chr17:38374969-38375699	HepG2	liver:	n/a	n/a
24	TBP	chr17:38374901-38375805	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr17:38375326-38375819	K562	blood:	n/a	n/a
26	TEAD4	chr17:38375110-38375879	ECC-1	luminal epithelium:	n/a	n/a
27	GABPA	chr17:38375144-38375907	MCF-7	breast:	n/a	chr17:38375497-38375508 chr17:38375497-38375506 chr17:38375410-38375417
28	ZBTB7A	chr17:38375346-38376292	ECC-1	luminal epithelium:	n/a	n/a
29	TCF12	chr17:38375241-38375889	ECC-1	luminal epithelium:	n/a	chr17:38375759-38375769
30	POLR2A	chr17:38374934-38376158	HepG2	liver:	n/a	n/a
31	ELF1	chr17:38374924-38376283	HCT-116	colon:	n/a	chr17:38375453-38375462
32	GABPA	chr17:38375215-38375845	MCF-7	breast:	n/a	chr17:38375497-38375508 chr17:38375497-38375506 chr17:38375410-38375417
33	POLR2A	chr17:38375654-38375768	A549	lung:	n/a	n/a
34	FOXP2	chr17:38375364-38375717	SK-N-MC	brain:	n/a	n/a
35	GABPA	chr17:38375188-38375880	SK-N-SH	brain:	n/a	chr17:38375497-38375508 chr17:38375497-38375506 chr17:38375410-38375417
36	YY1	chr17:38374831-38375805	GM12878	blood:	n/a	chr17:38375550-38375572 chr17:38375550-38375560 chr17:38375422-38375444
37	YY1	chr17:38374861-38375728	SK-N-SH_RA	brain:	n/a	chr17:38375550-38375572 chr17:38375550-38375560 chr17:38375422-38375444
38	YY1	chr17:38375332-38375715	HCT-116	colon:	n/a	chr17:38375550-38375572 chr17:38375550-38375560 chr17:38375422-38375444
39	YY1	chr17:38374987-38375707	GM12892	blood:	n/a	chr17:38375550-38375572 chr17:38375550-38375560 chr17:38375422-38375444
40	POLR2A	chr17:38375622-38375815	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr17:38374551-38376269	PANC-1	pancreas:	n/a	n/a
42	ETS1	chr17:38375196-38375749	K562	blood:	n/a	n/a
43	MAZ	chr17:38375208-38376133	HepG2	liver:	n/a	chr17:38375753-38375763
44	POLR2A	chr17:38375238-38375805	HCT-116	colon:	n/a	n/a
45	POLR2A	chr17:38375110-38375798	HepG2	liver:	n/a	n/a
46	YY1	chr17:38374875-38375819	ECC-1	luminal epithelium:	n/a	chr17:38375550-38375572 chr17:38375550-38375560 chr17:38375422-38375444
47	NRF1	chr17:38374969-38375770	SK-N-SH	brain:	n/a	chr17:38375496-38375507 chr17:38375497-38375508 chr17:38375497-38375506 chr17:38375410-38375417
48	POLR2A	chr17:38374726-38376312	GM12892	blood:	n/a	n/a
49	ELF1	chr17:38375110-38375829	HepG2	liver:	n/a	chr17:38375453-38375462
50	TAF1	chr17:38375338-38375793	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:38374160..38377020-chr17:38442777..38445786,6	K562	blood:
2	chr17:38278214..38280293-chr17:38374121..38375969,2	K562	blood:
3	chr17:38374494..38376026-chr17:38472428..38474743,2	K562	blood:
4	chr17:38346506..38348012-chr17:38375510..38377087,2	MCF-7	breast:
5	chr17:38335879..38338134-chr17:38374200..38376894,2	MCF-7	breast:
6	chr17:38375087..38377704-chr17:38472815..38475239,3	MCF-7	breast:
7	chr17:38374332..38376938-chr17:38443051..38445440,2	MCF-7	breast:
8	chr17:38374207..38376996-chr17:38442281..38444578,5	K562	blood:
9	chr17:38375504..38376129-chr6:80713334..80714172,2	Hela-S3	cervix:
10	chr17:38373931..38375923-chr17:38445660..38448267,2	K562	blood:
11	chr17:38374494..38377034-chr17:38473243..38475629,2	K562	blood:

Variant related genes	Relation type
WIPF2	TF binding region
ENSG00000188895	Chromatin interaction
ENSG00000112742	Chromatin interaction
ENSG00000131759	Chromatin interaction
ENSG00000108352	Chromatin interaction
ENSG00000094804	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	nsv833444	chr17:38242823-38437280	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv525796	chr17:38306365-38405037	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv3325187	chr17:38374651-38377199	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 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	chr17:38374600-38376200	Active TSS	Primary B cells from cord blood	blood
2	chr17:38374600-38376200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr17:38374600-38376800	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr17:38374600-38376800	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr17:38374600-38376800	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr17:38374600-38376800	Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr17:38374600-38376800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr17:38374600-38376800	Active TSS	Brain Cingulate Gyrus	brain
9	chr17:38374600-38376800	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr17:38374600-38377800	Active TSS	Brain Angular Gyrus	brain
11	chr17:38374800-38376000	Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr17:38374800-38376400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr17:38374800-38376400	Active TSS	Brain Substantia Nigra	brain
14	chr17:38374800-38376400	Active TSS	Duodenum Mucosa	Duodenum
15	chr17:38374800-38376400	Active TSS	Fetal Brain Female	brain
16	chr17:38374800-38376400	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr17:38374800-38376600	Active TSS	H1 Cell Line	embryonic stem cell
18	chr17:38374800-38376600	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr17:38374800-38376600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr17:38374800-38376600	Active TSS	Colonic Mucosa	Colon
21	chr17:38374800-38376800	Active TSS	H9 Cell Line	embryonic stem cell
22	chr17:38374800-38376800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr17:38374800-38376800	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr17:38374800-38376800	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr17:38374800-38376800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr17:38374800-38376800	Active TSS	Fetal Kidney	kidney
27	chr17:38374800-38376800	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr17:38374800-38376800	Active TSS	Rectal Smooth Muscle	rectum
29	chr17:38375000-38376000	Active TSS	Primary hematopoietic stem cells	blood
30	chr17:38375000-38376000	Active TSS	Primary hematopoietic stem cells short term culture	blood
31	chr17:38375000-38376000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
32	chr17:38375000-38376000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
33	chr17:38375000-38376000	Active TSS	Rectal Mucosa Donor 31	rectum
34	chr17:38375000-38376200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
35	chr17:38375000-38376200	Active TSS	Hela-S3	cervix
36	chr17:38375000-38376400	Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr17:38375000-38376400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr17:38375000-38376400	Active TSS	Brain Anterior Caudate	brain
39	chr17:38375000-38376400	Active TSS	Brain Hippocampus Middle	brain
40	chr17:38375000-38376400	Active TSS	Fetal Brain Male	brain
41	chr17:38375000-38376400	Active TSS	Fetal Stomach	stomach
42	chr17:38375000-38376400	Active TSS	Pancreas	Pancrea
43	chr17:38375000-38376400	Active TSS	Sigmoid Colon	Sigmoid Colon
44	chr17:38375000-38376600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
45	chr17:38375000-38376600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr17:38375000-38376600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr17:38375000-38376600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
48	chr17:38375000-38376600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr17:38375000-38376600	Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr17:38375000-38376600	Active TSS	Aorta	Aorta

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