Variant report

Variant	rs142311967
Chromosome Location	chr17:38346718-38346719
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	MAZ	chr17:38346671-38346951	HepG2	liver:	n/a	n/a
2	RAD21	chr17:38346683-38347065	HepG2	liver:	n/a	n/a
3	CTCF	chr17:38346472-38348857	SK-N-SH	brain:	n/a	chr17:38346852-38346861
4	CTCF	chr17:38346555-38347497	A549	lung:	n/a	chr17:38346852-38346861
5	CTCF	chr17:38346619-38347108	H1-hESC	embryonic stem cell:	n/a	chr17:38346852-38346861
6	CTCF	chr17:38346671-38347073	MCF-7	breast:	n/a	chr17:38346852-38346861
7	POLR2A	chr17:38346582-38348488	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr17:38346705-38347148	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr17:38346657-38347187	HepG2	liver:	n/a	n/a
10	CTCF	chr17:38346708-38347127	K562	blood:	n/a	chr17:38346852-38346861
11	CTCF	chr17:38346709-38347092	K562	blood:	n/a	chr17:38346852-38346861
12	CTCF	chr17:38346660-38346810	HAc	cerebellar:	n/a	n/a
13	POLR2A	chr17:38346581-38347252	MCF-7	breast:	n/a	n/a
14	CTCF	chr17:38346562-38347179	H1-hESC	embryonic stem cell:	n/a	chr17:38346852-38346861
15	POLR2A	chr17:38346649-38347217	K562	blood:	n/a	n/a
16	POLR2A	chr17:38346574-38347225	SK-N-MC	brain:	n/a	n/a
17	CTCF	chr17:38346684-38347174	HepG2	liver:	n/a	chr17:38346852-38346861
18	CTCF	chr17:38346690-38347032	K562	blood:	n/a	chr17:38346852-38346861
19	YY1	chr17:38346660-38347187	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr17:38346613-38347144	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr17:38346680-38346830	HA-sp	spinal cord:	n/a	n/a
22	ZNF143	chr17:38346677-38347018	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr17:38346716-38347173	H1-hESC	embryonic stem cell:	n/a	chr17:38346852-38346861
24	RAD21	chr17:38346701-38346930	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr17:38346707-38347032	A549	lung:	n/a	chr17:38346852-38346861
26	MAX	chr17:38346687-38347236	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr17:38346632-38347127	HepG2	liver:	n/a	chr17:38346852-38346861
28	RCOR1	chr17:38346715-38347074	HepG2	liver:	n/a	n/a
29	POLR2A	chr17:38346602-38348385	H1-hESC	embryonic stem cell:	n/a	n/a
30	RAD21	chr17:38346621-38347099	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:

Variant related genes	Relation type
RAPGEFL1	TF binding region
ENSG00000188895	Chromatin interaction
ENSG00000126368	Chromatin interaction
ENSG00000171475	Chromatin interaction
ENSG00000265799	Chromatin interaction
ENSG00000108342	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

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links