Variant report

Variant	rs57594195
Chromosome Location	chr5:177656853-177656854
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:177656552-177660493	HepG2	liver:	n/a	n/a
2	POLR2A	chr5:177656712-177657300	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr5:177656744-177657239	K562	blood:	n/a	n/a
4	POLR2A	chr5:177656699-177657767	SK-N-MC	brain:	n/a	n/a
5	POLR2A	chr5:177656719-177660560	GM12891	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:177656852-177656902	HMEC	breast:	n/a
2	chr5:177656852-177656902	SK-N-MC	brain:	n/a
3	chr5:177656852-177656902	RPTEC	kidney:	n/a
4	chr5:177656852-177656902	HEK293	kidney:	embryo
5	chr5:177656852-177656902	NT2-D1	testis:	n/a
6	chr5:177656852-177656902	GM12891	blood:	n/a
7	chr5:177656852-177656902	GM06990	blood:	n/a
8	chr5:177656852-177656902	GM19239	blood:	n/a
9	chr5:177656852-177656902	GM12878	blood:	n/a
10	chr5:177656852-177656902	AG04449	skin:	fetal
11	chr5:177656852-177656902	Caco-2	colon:	n/a
12	chr5:177656852-177656902	T-47D	breast:	n/a
13	chr5:177656852-177656902	BE2_C	brain:	n/a
14	chr5:177656852-177656902	PFSK-1	brain:	n/a
15	chr5:177656852-177656902	ECC-1	luminal epithelium:	n/a
16	chr5:177656852-177656902	HRCEpiC	kidney:	n/a
17	chr5:177656852-177656902	ProgFib	skin:	n/a
18	chr5:177656852-177656902	NH-A	brain:	n/a
19	chr5:177656852-177656902	HIPEpiC	eye:	n/a
20	chr5:177656852-177656902	ovcar-3	ovarian:	n/a
21	chr5:177656852-177656902	CMK	blood:	n/a
22	chr5:177656852-177656902	U87	brain:	n/a
23	chr5:177656852-177656902	MCF10A-Er-Src	breast:	n/a
24	chr5:177656852-177656902	HCF	heart:	n/a
25	chr5:177656852-177656902	AG09319	gingival:	n/a
26	chr5:177656852-177656902	HL-60	blood:	n/a
27	chr5:177656852-177656902	HRPEpiC	eye:	n/a
28	chr5:177656852-177656902	H1-hESC	embryonic stem cell:	embryo
29	chr5:177656852-177656902	PrEC	prostate:	n/a
30	chr5:177656852-177656902	HCT-116	colon:	n/a
31	chr5:177656852-177656902	HepG2	liver:	n/a
32	chr5:177656852-177656902	SAEC	small airway:	n/a
33	chr5:177656852-177656902	Hela-S3	cervix:	n/a
34	chr5:177656852-177656902	AoSMC	blood vessel:	n/a
35	chr5:177656852-177656902	SK-N-SH_RA	brain:	n/a
36	chr5:177656852-177656902	HUVEC	blood vessel:	n/a
37	chr5:177656852-177656902	AG09309	skin:	n/a
38	chr5:177656852-177656902	A549	lung:	n/a
39	chr5:177656852-177656902	K562	blood:	n/a
40	chr5:177656852-177656902	Jurkat	blood:	n/a
41	chr5:177656852-177656902	AG04450	lung:	fetal
42	chr5:177656852-177656902	AG10803	skin:	n/a
43	chr5:177656852-177656902	HPAEpiC	pulmonary alveolar:	n/a
44	chr5:177656852-177656902	PANC-1	pancreas:	n/a
45	chr5:177656852-177656902	HCM	heart:	n/a
46	chr5:177656852-177656902	NB4	blood:	n/a
47	chr5:177656852-177656902	HNPCEpiC	eye:	n/a
48	chr5:177656852-177656902	GM12892	blood:	n/a
49	chr5:177656852-177656902	IMR90	lung:	fetal
50	chr5:177656852-177656902	HAEpiC	amniotic membrane:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:177019232..177020994-chr5:177656791..177659399,2	K562	blood:

No data

Variant related genes	Relation type
PHYKPL	TF binding region
PHYKPL	CpG island
ENSG00000184840	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11747964	0.95[ASN][1000 genomes]
rs56727222	0.95[ASN][1000 genomes]
rs56753982	1.00[AMR][1000 genomes]
rs57358849	0.95[ASN][1000 genomes]
rs58209854	0.95[ASN][1000 genomes]
rs61473059	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6881230	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6887384	0.95[ASN][1000 genomes]
rs6899207	0.91[ASN][1000 genomes]
rs73336845	1.00[AMR][1000 genomes]
rs73336889	1.00[AMR][1000 genomes]
rs73338871	1.00[AMR][1000 genomes]
rs73342844	1.00[AMR][1000 genomes]
rs73351260	0.95[ASN][1000 genomes]
rs7707147	0.95[ASN][1000 genomes]
rs7718055	0.95[ASN][1000 genomes]
rs7719034	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948342	chr5:177384542-178168737	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	141 gene(s)	inside rSNPs	diseases
2	nsv1029398	chr5:177502106-178070654	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	136 gene(s)	inside rSNPs	diseases
3	nsv1019404	chr5:177507080-177859089	Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	126 gene(s)	inside rSNPs	diseases
4	nsv482872	chr5:177580298-177744381	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	106 gene(s)	inside rSNPs	diseases
5	nsv1021981	chr5:177620372-177825272	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	105 gene(s)	inside rSNPs	diseases
6	nsv537967	chr5:177620372-177825272	Active TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	105 gene(s)	inside rSNPs	diseases
7	nsv1024689	chr5:177638936-177926244	Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv537968	chr5:177638936-177926244	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
9	nsv1018031	chr5:177655010-177746378	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
10	nsv537969	chr5:177655010-177746378	Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
11	nsv883195	chr5:177655194-177690539	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
12	nsv883196	chr5:177655194-177690978	Transcr. at gene 5' and 3' Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
13	nsv883197	chr5:177655194-177707204	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177635800-177657000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr5:177639400-177657600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr5:177646200-177657000	Weak transcription	Fetal Brain Male	brain
4	chr5:177646600-177657400	Strong transcription	Thymus	Thymus
5	chr5:177646800-177658000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr5:177647800-177657000	Strong transcription	Brain Germinal Matrix	brain
7	chr5:177648000-177658000	Strong transcription	Fetal Thymus	thymus
8	chr5:177648200-177657000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr5:177648200-177657000	Strong transcription	NHLF	lung
10	chr5:177648200-177657400	Strong transcription	Fetal Brain Female	brain
11	chr5:177648200-177657800	Genic enhancers	Fetal Intestine Large	intestine
12	chr5:177648600-177658000	Strong transcription	Spleen	Spleen
13	chr5:177649000-177657400	Strong transcription	Primary T cells from cord blood	blood
14	chr5:177649400-177657000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr5:177649400-177657200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr5:177649400-177657200	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr5:177649600-177657800	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr5:177651000-177657000	Strong transcription	Brain Inferior Temporal Lobe	brain
19	chr5:177651400-177658000	Genic enhancers	Primary T cells fromperipheralblood	blood
20	chr5:177651600-177657800	Strong transcription	Fetal Muscle Leg	muscle
21	chr5:177651600-177658000	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr5:177651600-177658000	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr5:177651800-177657000	Strong transcription	Right Ventricle	heart
24	chr5:177651800-177658000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr5:177652000-177657000	Strong transcription	Muscle Satellite Cultured Cells	--
26	chr5:177652000-177657000	Strong transcription	Placenta	Placenta
27	chr5:177652000-177658000	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr5:177652000-177658000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr5:177652000-177658200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr5:177652200-177657600	Genic enhancers	Liver	Liver
31	chr5:177652800-177658200	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr5:177653600-177657000	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr5:177653600-177657600	Genic enhancers	Duodenum Mucosa	Duodenum
34	chr5:177653600-177658200	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr5:177653600-177658200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr5:177653600-177658200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr5:177654000-177657200	Genic enhancers	Rectal Mucosa Donor 29	rectum
38	chr5:177654000-177657600	Strong transcription	Primary hematopoietic stem cells	blood
39	chr5:177654000-177657600	Strong transcription	Brain Anterior Caudate	brain
40	chr5:177654000-177657600	Strong transcription	A549	lung
41	chr5:177654000-177658000	Genic enhancers	Colonic Mucosa	Colon
42	chr5:177654200-177657000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr5:177654200-177657200	Strong transcription	HSMMtube	muscle
44	chr5:177654200-177657400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
45	chr5:177654200-177657400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr5:177654200-177657600	Strong transcription	Fetal Lung	lung
47	chr5:177654200-177657800	Genic enhancers	Rectal Mucosa Donor 31	rectum
48	chr5:177654200-177658000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr5:177654200-177658000	Strong transcription	Esophagus	oesophagus
50	chr5:177654200-177658000	Strong transcription	Rectal Smooth Muscle	rectum

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