Variant report

Variant	rs114950975
Chromosome Location	chr17:38375250-38375251
allele	A/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	POLR2A	chr17:38374978-38375814	U87	brain:	n/a	n/a
2	TAF1	chr17:38375176-38375663	SK-N-SH	brain:	n/a	n/a
3	CUX1	chr17:38374987-38375591	K562	blood:	n/a	n/a
4	POLR2A	chr17:38375175-38375820	HUVEC	blood vessel:	n/a	n/a
5	YY1	chr17:38374925-38375733	SK-N-SH_RA	brain:	n/a	chr17:38375550-38375572 chr17:38375550-38375560 chr17:38375422-38375444
6	POLR2A	chr17:38374600-38375848	SK-N-SH	brain:	n/a	n/a
7	MAZ	chr17:38375031-38376279	K562	blood:	n/a	chr17:38375071-38375080 chr17:38375753-38375763 chr17:38375075-38375084
8	TAF1	chr17:38374753-38376274	H1-neurons	neurons:	n/a	n/a
9	NFIC	chr17:38375065-38375634	HepG2	liver:	n/a	n/a
10	USF1	chr17:38374759-38375310	ECC-1	luminal epithelium:	n/a	n/a
11	TBP	chr17:38375225-38375637	Hela-S3	cervix:	n/a	n/a
12	USF1	chr17:38374909-38375583	A549	lung:	n/a	n/a
13	POLR2A	chr17:38375158-38375829	K562	blood:	n/a	n/a
14	ETS1	chr17:38374934-38375875	A549	lung:	n/a	n/a
15	TCF7L2	chr17:38375019-38375408	PANC-1	pancreas:	n/a	n/a
16	POLR2A	chr17:38375217-38375820	Hela-S3	cervix:	n/a	n/a
17	EP300	chr17:38374871-38376028	ECC-1	luminal epithelium:	n/a	chr17:38375530-38375544
18	POLR2A	chr17:38375201-38376404	Hela-S3	cervix:	n/a	n/a
19	RFX5	chr17:38374936-38375623	Hela-S3	cervix:	n/a	chr17:38375069-38375077 chr17:38375070-38375085 chr17:38375070-38375085 chr17:38375067-38375082 chr17:38375070-38375085 chr17:38375069-38375086
20	MYBL2	chr17:38374761-38375867	HepG2	liver:	n/a	n/a
21	YY1	chr17:38375246-38375687	GM12891	blood:	n/a	chr17:38375550-38375572 chr17:38375550-38375560 chr17:38375422-38375444
22	TAF1	chr17:38374805-38376284	ECC-1	luminal epithelium:	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	TEAD4	chr17:38375110-38375879	ECC-1	luminal epithelium:	n/a	n/a
26	GABPA	chr17:38375144-38375907	MCF-7	breast:	n/a	chr17:38375497-38375508 chr17:38375497-38375506 chr17:38375410-38375417
27	TCF12	chr17:38375241-38375889	ECC-1	luminal epithelium:	n/a	chr17:38375759-38375769
28	POLR2A	chr17:38374934-38376158	HepG2	liver:	n/a	n/a
29	ELF1	chr17:38374924-38376283	HCT-116	colon:	n/a	chr17:38375453-38375462
30	GABPA	chr17:38375215-38375845	MCF-7	breast:	n/a	chr17:38375497-38375508 chr17:38375497-38375506 chr17:38375410-38375417
31	GABPA	chr17:38375188-38375880	SK-N-SH	brain:	n/a	chr17:38375497-38375508 chr17:38375497-38375506 chr17:38375410-38375417
32	POLR2A	chr17:38375229-38375604	GM12892	blood:	n/a	n/a
33	YY1	chr17:38374831-38375805	GM12878	blood:	n/a	chr17:38375550-38375572 chr17:38375550-38375560 chr17:38375422-38375444
34	ZKSCAN1	chr17:38375250-38375624	Hela-S3	cervix:	n/a	n/a
35	YY1	chr17:38374861-38375728	SK-N-SH_RA	brain:	n/a	chr17:38375550-38375572 chr17:38375550-38375560 chr17:38375422-38375444
36	YY1	chr17:38374987-38375707	GM12892	blood:	n/a	chr17:38375550-38375572 chr17:38375550-38375560 chr17:38375422-38375444
37	POLR2A	chr17:38374551-38376269	PANC-1	pancreas:	n/a	n/a
38	ETS1	chr17:38375196-38375749	K562	blood:	n/a	n/a
39	MAZ	chr17:38375208-38376133	HepG2	liver:	n/a	chr17:38375753-38375763
40	RUNX3	chr17:38374835-38375655	GM12878	blood:	n/a	n/a
41	POLR2A	chr17:38375238-38375805	HCT-116	colon:	n/a	n/a
42	CHD2	chr17:38374875-38375619	GM12878	blood:	n/a	n/a
43	POLR2A	chr17:38375110-38375798	HepG2	liver:	n/a	n/a
44	CTCF	chr17:38375237-38375638	K562	blood:	n/a	chr17:38375470-38375488 chr17:38375473-38375486 chr17:38375471-38375487
45	YY1	chr17:38374875-38375819	ECC-1	luminal epithelium:	n/a	chr17:38375550-38375572 chr17:38375550-38375560 chr17:38375422-38375444
46	SIX5	chr17:38375217-38375608	GM12878	blood:	n/a	n/a
47	MAFF	chr17:38375238-38375572	HepG2	liver:	n/a	n/a
48	SIN3A	chr17:38374873-38375586	GM12878	blood:	n/a	n/a
49	EP300	chr17:38374914-38375490	K562	blood:	n/a	n/a
50	NRF1	chr17:38374969-38375770	SK-N-SH	brain:	n/a	chr17:38375496-38375507 chr17:38375497-38375508 chr17:38375497-38375506 chr17:38375410-38375417

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	chr17:38335879..38338134-chr17:38374200..38376894,2	MCF-7	breast:
5	chr17:38375087..38377704-chr17:38472815..38475239,3	MCF-7	breast:
6	chr17:38374332..38376938-chr17:38443051..38445440,2	MCF-7	breast:
7	chr17:38374207..38376996-chr17:38442281..38444578,5	K562	blood:
8	chr17:38373931..38375923-chr17:38445660..38448267,2	K562	blood:
9	chr17:38374494..38377034-chr17:38473243..38475629,2	K562	blood:

Variant related genes	Relation type
WIPF2	TF binding region
ENSG00000188895	Chromatin interaction
ENSG00000108352	Chromatin interaction
ENSG00000094804	Chromatin interaction
ENSG00000131759	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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38374600-38375400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr17:38374600-38375400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr17:38374600-38375400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
4	chr17:38374600-38376200	Active TSS	Primary B cells from cord blood	blood
5	chr17:38374600-38376200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr17:38374600-38376800	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr17:38374600-38376800	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr17:38374600-38376800	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr17:38374600-38376800	Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr17:38374600-38376800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr17:38374600-38376800	Active TSS	Brain Cingulate Gyrus	brain
12	chr17:38374600-38376800	Active TSS	Brain Inferior Temporal Lobe	brain
13	chr17:38374600-38377800	Active TSS	Brain Angular Gyrus	brain
14	chr17:38374800-38375400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr17:38374800-38375400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
16	chr17:38374800-38375400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
17	chr17:38374800-38375400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr17:38374800-38375400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
19	chr17:38374800-38375400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr17:38374800-38375400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr17:38374800-38375400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr17:38374800-38375400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr17:38374800-38375400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
24	chr17:38374800-38375400	Flanking Active TSS	A549	lung
25	chr17:38374800-38375400	Flanking Active TSS	Dnd41	blood
26	chr17:38374800-38375400	Flanking Active TSS	GM12878-XiMat	blood
27	chr17:38374800-38375400	Flanking Active TSS	NHLF	lung
28	chr17:38374800-38375600	Active TSS	Brain Germinal Matrix	brain
29	chr17:38374800-38376000	Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr17:38374800-38376400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr17:38374800-38376400	Active TSS	Brain Substantia Nigra	brain
32	chr17:38374800-38376400	Active TSS	Duodenum Mucosa	Duodenum
33	chr17:38374800-38376400	Active TSS	Fetal Brain Female	brain
34	chr17:38374800-38376400	Active TSS	Rectal Mucosa Donor 29	rectum
35	chr17:38374800-38376600	Active TSS	H1 Cell Line	embryonic stem cell
36	chr17:38374800-38376600	Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr17:38374800-38376600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr17:38374800-38376600	Active TSS	Colonic Mucosa	Colon
39	chr17:38374800-38376800	Active TSS	H9 Cell Line	embryonic stem cell
40	chr17:38374800-38376800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr17:38374800-38376800	Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr17:38374800-38376800	Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr17:38374800-38376800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr17:38374800-38376800	Active TSS	Fetal Kidney	kidney
45	chr17:38374800-38376800	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr17:38374800-38376800	Active TSS	Rectal Smooth Muscle	rectum
47	chr17:38375000-38375400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr17:38375000-38375400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr17:38375000-38375400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
50	chr17:38375000-38375400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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