Variant report

Variant	rs143000460
Chromosome Location	chr17:38346747-38346748
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	CTCF	chr17:38346740-38346890	NHLF	lung:	n/a	chr17:38346852-38346861
2	MAZ	chr17:38346671-38346951	HepG2	liver:	n/a	n/a
3	RAD21	chr17:38346683-38347065	HepG2	liver:	n/a	n/a
4	CTCF	chr17:38346472-38348857	SK-N-SH	brain:	n/a	chr17:38346852-38346861
5	CTCF	chr17:38346555-38347497	A549	lung:	n/a	chr17:38346852-38346861
6	CTCF	chr17:38346619-38347108	H1-hESC	embryonic stem cell:	n/a	chr17:38346852-38346861
7	CTCF	chr17:38346740-38346890	BJ	skin:	n/a	chr17:38346852-38346861
8	CTCF	chr17:38346671-38347073	MCF-7	breast:	n/a	chr17:38346852-38346861
9	POLR2A	chr17:38346582-38348488	H1-hESC	embryonic stem cell:	n/a	n/a
10	SIN3A	chr17:38346739-38348233	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr17:38346740-38346890	GM12865	blood:	n/a	chr17:38346852-38346861
12	CTCF	chr17:38346740-38346890	HCT-116	colon:	n/a	chr17:38346852-38346861
13	POLR2A	chr17:38346705-38347148	H1-hESC	embryonic stem cell:	n/a	n/a
14	EBF1	chr17:38346732-38347013	GM12878	blood:	n/a	n/a
15	POLR2A	chr17:38346657-38347187	HepG2	liver:	n/a	n/a
16	CTCF	chr17:38346708-38347127	K562	blood:	n/a	chr17:38346852-38346861
17	RAD21	chr17:38346735-38347055	HepG2	liver:	n/a	n/a
18	CTCF	chr17:38346709-38347092	K562	blood:	n/a	chr17:38346852-38346861
19	CTCF	chr17:38346660-38346810	HAc	cerebellar:	n/a	n/a
20	POLR2A	chr17:38346581-38347252	MCF-7	breast:	n/a	n/a
21	CTCF	chr17:38346562-38347179	H1-hESC	embryonic stem cell:	n/a	chr17:38346852-38346861
22	CTCF	chr17:38346740-38346890	AG09319	gingival:	n/a	chr17:38346852-38346861
23	GTF2F1	chr17:38346747-38347116	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr17:38346649-38347217	K562	blood:	n/a	n/a
25	JUND	chr17:38346737-38347079	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr17:38346574-38347225	SK-N-MC	brain:	n/a	n/a
27	CTCF	chr17:38346720-38346870	MCF-7	breast:	n/a	chr17:38346852-38346861
28	CTCF	chr17:38346684-38347174	HepG2	liver:	n/a	chr17:38346852-38346861
29	CTCF	chr17:38346740-38346890	GM12864	blood:	n/a	chr17:38346852-38346861
30	CTCF	chr17:38346690-38347032	K562	blood:	n/a	chr17:38346852-38346861
31	CTCF	chr17:38346740-38346890	A549	lung:	n/a	chr17:38346852-38346861
32	YY1	chr17:38346660-38347187	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr17:38346740-38346890	AG10803	skin:	n/a	chr17:38346852-38346861
34	POLR2A	chr17:38346613-38347144	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr17:38346744-38347023	K562	blood:	n/a	chr17:38346852-38346861
36	CTCF	chr17:38346680-38346830	HA-sp	spinal cord:	n/a	n/a
37	ZNF143	chr17:38346677-38347018	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr17:38346719-38347027	IMR90	lung:	n/a	chr17:38346852-38346861
39	CTCF	chr17:38346716-38347173	H1-hESC	embryonic stem cell:	n/a	chr17:38346852-38346861
40	RAD21	chr17:38346701-38346930	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr17:38346723-38346981	A549	lung:	n/a	chr17:38346852-38346861
42	CTCF	chr17:38346740-38346890	WI-38	lung:	n/a	chr17:38346852-38346861
43	CTCF	chr17:38346707-38347032	A549	lung:	n/a	chr17:38346852-38346861
44	CTCF	chr17:38346740-38346890	RPTEC	kidney:	n/a	chr17:38346852-38346861
45	MAX	chr17:38346687-38347236	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr17:38346720-38346870	HL-60	blood:	n/a	chr17:38346852-38346861
47	CTCF	chr17:38346720-38346870	HPF	lung:	n/a	chr17:38346852-38346861
48	CTCF	chr17:38346632-38347127	HepG2	liver:	n/a	chr17:38346852-38346861
49	RCOR1	chr17:38346715-38347074	HepG2	liver:	n/a	n/a
50	POLR2A	chr17:38346602-38348385	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:38255845..38258486-chr17:38345556..38347163,2	MCF-7	breast:
2	chr17:38277920..38280919-chr17:38344747..38347808,3	MCF-7	breast:
3	chr17:38346506..38348012-chr17:38375510..38377087,2	MCF-7	breast:
4	chr17:38168785..38171760-chr17:38343651..38347238,3	K562	blood:
5	chr17:38343572..38346037-chr17:38346737..38348238,2	K562	blood:

Variant related genes	Relation type
RAPGEFL1	TF binding region
ENSG00000108342	Chromatin interaction
ENSG00000265799	Chromatin interaction
ENSG00000188895	Chromatin interaction
ENSG00000171475	Chromatin interaction
ENSG00000108352	Chromatin interaction
ENSG00000126368	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	esv3413265	chr17:38346576-38348974	Active TSS Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38333200-38347000	Weak transcription	Brain Substantia Nigra	brain
2	chr17:38333600-38347000	Weak transcription	Fetal Lung	lung
3	chr17:38334000-38347000	Weak transcription	HUVEC	blood vessel
4	chr17:38334200-38346800	Weak transcription	Spleen	Spleen
5	chr17:38334200-38347000	Weak transcription	GM12878-XiMat	blood
6	chr17:38334200-38347400	Weak transcription	Aorta	Aorta
7	chr17:38334400-38346800	Weak transcription	Colon Smooth Muscle	Colon
8	chr17:38334400-38346800	Weak transcription	Ovary	ovary
9	chr17:38334600-38346800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr17:38335200-38346800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr17:38335200-38346800	Weak transcription	Thymus	Thymus
12	chr17:38335200-38347000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr17:38335200-38347800	Weak transcription	Small Intestine	intestine
14	chr17:38335400-38346800	Weak transcription	Fetal Brain Male	brain
15	chr17:38335400-38347000	Weak transcription	Brain Cingulate Gyrus	brain
16	chr17:38336400-38347000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr17:38336400-38347000	Weak transcription	NHDF-Ad	bronchial
18	chr17:38336400-38347000	Weak transcription	NHLF	lung
19	chr17:38336600-38346800	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr17:38336800-38347400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr17:38337000-38346800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr17:38337000-38347000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr17:38337000-38347000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr17:38337000-38347000	Weak transcription	Osteobl	bone
25	chr17:38337200-38347000	Weak transcription	Brain Angular Gyrus	brain
26	chr17:38337200-38347200	Weak transcription	NH-A	brain
27	chr17:38337400-38346800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr17:38337600-38347000	Weak transcription	HSMM	muscle
29	chr17:38337800-38347000	Weak transcription	Lung	lung
30	chr17:38337800-38347000	Weak transcription	Pancreas	Pancrea
31	chr17:38338000-38346800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr17:38338000-38346800	Weak transcription	HMEC	breast
33	chr17:38338000-38347000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr17:38338000-38347000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr17:38338000-38349800	Weak transcription	Dnd41	blood
36	chr17:38339600-38347000	Weak transcription	Left Ventricle	heart
37	chr17:38339600-38347400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr17:38341000-38347800	Weak transcription	NHEK	skin
39	chr17:38341800-38346800	Weak transcription	Gastric	stomach
40	chr17:38342000-38347000	Weak transcription	Stomach Mucosa	stomach
41	chr17:38342400-38346800	Weak transcription	Liver	Liver
42	chr17:38342400-38347400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr17:38343400-38347000	Strong transcription	Colonic Mucosa	Colon
44	chr17:38343400-38347200	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr17:38345000-38346800	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr17:38345000-38347000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr17:38345000-38347000	Strong transcription	Fetal Intestine Small	intestine
48	chr17:38345000-38347200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr17:38345200-38346800	Weak transcription	Adipose Nuclei	Adipose
50	chr17:38345600-38346800	Weak transcription	H9 Cell Line	embryonic stem cell

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