Variant report

Variant	rs188471469
Chromosome Location	chr5:179717518-179717519
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr5:179717374-179720894	SK-N-SH	brain:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:179717478-179717528	HMEC	breast:	n/a
2	chr5:179717478-179717528	AG04450	lung:	fetal
3	chr5:179717478-179717528	HEK293	kidney:	embryo
4	chr5:179717478-179717528	MCF10A-Er-Src	breast:	n/a
5	chr5:179717478-179717528	HepG2	liver:	n/a
6	chr5:179717478-179717528	HUVEC	blood vessel:	n/a
7	chr5:179717478-179717528	NH-A	brain:	n/a
8	chr5:179717478-179717528	HRPEpiC	eye:	n/a
9	chr5:179717478-179717528	SAEC	small airway:	n/a
10	chr5:179717478-179717528	AG10803	skin:	n/a
11	chr5:179717478-179717528	T-47D	breast:	n/a
12	chr5:179717478-179717528	RPTEC	kidney:	n/a
13	chr5:179717478-179717528	BE2_C	brain:	n/a
14	chr5:179717478-179717528	H1-hESC	embryonic stem cell:	embryo
15	chr5:179717478-179717528	ovcar-3	ovarian:	n/a
16	chr5:179717478-179717528	ProgFib	skin:	n/a
17	chr5:179717478-179717528	GM12891	blood:	n/a
18	chr5:179717478-179717528	HEEpiC	esophagus:	n/a
19	chr5:179717478-179717528	GM12892	blood:	n/a
20	chr5:179717478-179717528	AoSMC	blood vessel:	n/a
21	chr5:179717478-179717528	GM19239	blood:	n/a
22	chr5:179717478-179717528	HNPCEpiC	eye:	n/a
23	chr5:179717478-179717528	HCPEpiC	choroid plexus:	n/a
24	chr5:179717478-179717528	HRE	kidney:	n/a
25	chr5:179717478-179717528	SKMC	muscle:	n/a
26	chr5:179717478-179717528	SK-N-SH	brain:	n/a
27	chr5:179717478-179717528	CMK	blood:	n/a
28	chr5:179717478-179717528	AG09319	gingival:	n/a
29	chr5:179717478-179717528	HIPEpiC	eye:	n/a
30	chr5:179717478-179717528	K562	blood:	n/a
31	chr5:179717478-179717528	AG09309	skin:	n/a
32	chr5:179717478-179717528	BJ	skin:	n/a
33	chr5:179717478-179717528	NHBE	bronchial:	n/a
34	chr5:179717478-179717528	SK-N-MC	brain:	n/a
35	chr5:179717478-179717528	ECC-1	luminal epithelium:	n/a
36	chr5:179717478-179717528	HPAEpiC	pulmonary alveolar:	n/a
37	chr5:179717478-179717528	SK-N-SH_RA	brain:	n/a
38	chr5:179717478-179717528	PANC-1	pancreas:	n/a
39	chr5:179717478-179717528	Hela-S3	cervix:	n/a
40	chr5:179717478-179717528	PrEC	prostate:	n/a
41	chr5:179717478-179717528	HAEpiC	amniotic membrane:	n/a
42	chr5:179717478-179717528	LNCaP	prostate:	n/a
43	chr5:179717478-179717528	HL-60	blood:	n/a
44	chr5:179717478-179717528	Caco-2	colon:	n/a
45	chr5:179717478-179717528	NT2-D1	testis:	n/a
46	chr5:179717478-179717528	U87	brain:	n/a
47	chr5:179717478-179717528	HRCEpiC	kidney:	n/a
48	chr5:179717478-179717528	Jurkat	blood:	n/a
49	chr5:179717478-179717528	Hepatocyte	liver:	n/a
50	chr5:179717478-179717528	HCF	heart:	n/a

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:179715940..179718137-chr5:179891672..179893899,2	MCF-7	breast:
2	chr5:179716385..179718922-chr5:179921407..179923351,3	MCF-7	breast:
3	chr5:179716694..179718257-chr5:179740990..179742816,2	MCF-7	breast:
4	chr20:46275666..46278048-chr5:179716451..179718791,2	MCF-7	breast:
5	chr5:179716091..179718097-chr5:179718228..179720650,3	MCF-7	breast:
6	chr5:179695378..179696983-chr5:179716689..179718636,2	K562	blood:
7	chr5:179707659..179712077-chr5:179712622..179717997,8	MCF-7	breast:
8	chr5:179635600..179638547-chr5:179713821..179718130,5	MCF-7	breast:
9	chr5:179716122..179718666-chr5:179757910..179760029,2	K562	blood:
10	chr5:179712494..179714081-chr5:179717178..179718692,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000248367	TF binding region
ENSG00000248367	CpG island
ENSG00000113300	Chromatin interaction
ENSG00000146090	Chromatin interaction
ENSG00000050748	Chromatin interaction
ENSG00000248367	Chromatin interaction
ENSG00000131459	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948909	chr5:179249099-179772640	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
2	nsv1033706	chr5:179402769-179806356	Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	esv2758032	chr5:179534477-179729944	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	esv2759398	chr5:179534477-179729944	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv1023914	chr5:179649883-180040672	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv537983	chr5:179649883-180040672	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv1030697	chr5:179710469-180686563	ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	184 gene(s)	inside rSNPs	diseases
8	nsv883290	chr5:179712060-179818868	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	esv3398259	chr5:179717146-179721444	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr5:179692800-179718000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:179694800-179717600	Weak transcription	HUVEC	blood vessel
3	chr5:179704600-179718000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:179705600-179717600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr5:179706800-179718400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr5:179707600-179717600	Weak transcription	Fetal Kidney	kidney
7	chr5:179708400-179717800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr5:179710000-179717800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr5:179710400-179717800	Weak transcription	Right Ventricle	heart
10	chr5:179711600-179717600	Weak transcription	Aorta	Aorta
11	chr5:179711600-179718000	Weak transcription	Lung	lung
12	chr5:179712400-179717600	Weak transcription	NH-A	brain
13	chr5:179712400-179717800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr5:179712600-179717600	Weak transcription	Brain Substantia Nigra	brain
15	chr5:179714000-179717600	Weak transcription	Primary B cells from cord blood	blood
16	chr5:179714200-179717600	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr5:179714200-179717600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr5:179714200-179717600	Weak transcription	HSMMtube	muscle
19	chr5:179714400-179717600	Weak transcription	A549	lung
20	chr5:179714800-179717800	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr5:179715600-179717600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr5:179715800-179717800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr5:179716200-179718600	Enhancers	Stomach Mucosa	stomach
24	chr5:179716400-179717600	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr5:179716400-179717600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr5:179716400-179717600	Enhancers	HMEC	breast
27	chr5:179716400-179717800	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr5:179716400-179718000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr5:179716400-179718000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr5:179716600-179717600	Enhancers	Liver	Liver
31	chr5:179716600-179717600	Enhancers	Colonic Mucosa	Colon
32	chr5:179716600-179717600	Enhancers	Fetal Brain Male	brain
33	chr5:179716600-179717600	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr5:179716600-179717600	Enhancers	K562	blood
35	chr5:179716600-179717800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr5:179716600-179717800	Enhancers	Brain Anterior Caudate	brain
37	chr5:179716600-179717800	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr5:179716600-179717800	Enhancers	Left Ventricle	heart
39	chr5:179716600-179718000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr5:179716600-179718000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr5:179716600-179718000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr5:179716600-179718000	Enhancers	Primary T cells fromperipheralblood	blood
43	chr5:179716600-179718000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
44	chr5:179716600-179718000	Enhancers	Esophagus	oesophagus
45	chr5:179716600-179718000	Enhancers	Fetal Lung	lung
46	chr5:179716600-179718000	Enhancers	Psoas Muscle	Psoas
47	chr5:179716800-179717600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr5:179716800-179718000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr5:179716800-179718000	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr5:179716800-179718400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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