Variant report

Variant	rs6886332
Chromosome Location	chr5:177614387-177614388
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:177614354-177614462	H1-hESC	embryonic stem cell:	n/a	n/a
2	HEY1	chr5:177614269-177614488	HepG2	liver:	n/a	chr5:177614356-177614371
3	POLR2A	chr5:177614259-177614463	MCF-7	breast:	n/a	n/a
4	ZNF384	chr5:177614002-177614537	K562	blood:	n/a	n/a
5	POLR2A	chr5:177614340-177614449	GM12878	blood:	n/a	n/a
6	POLR2A	chr5:177614347-177614466	A549	lung:	n/a	n/a
7	POLR2A	chr5:177614371-177614432	A549	lung:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:177614382-177614432	AG04449	skin:	fetal
2	chr5:177614382-177614432	Jurkat	blood:	n/a
3	chr5:177614382-177614432	H1-hESC	embryonic stem cell:	embryo
4	chr5:177614382-177614432	Hela-S3	cervix:	n/a
5	chr5:177614382-177614432	SK-N-SH	brain:	n/a
6	chr5:177614382-177614432	ovcar-3	ovarian:	n/a
7	chr5:177614382-177614432	AoSMC	blood vessel:	n/a
8	chr5:177614382-177614432	HEK293	kidney:	embryo
9	chr5:177614382-177614432	GM12892	blood:	n/a
10	chr5:177614382-177614432	Hepatocyte	liver:	n/a
11	chr5:177614382-177614432	HPAEpiC	pulmonary alveolar:	n/a
12	chr5:177614382-177614432	HEEpiC	esophagus:	n/a
13	chr5:177614382-177614432	HRPEpiC	eye:	n/a
14	chr5:177614382-177614432	ProgFib	skin:	n/a
15	chr5:177614382-177614432	AG09319	gingival:	n/a
16	chr5:177614382-177614432	A549	lung:	n/a
17	chr5:177614382-177614432	RPTEC	kidney:	n/a
18	chr5:177614382-177614432	ECC-1	luminal epithelium:	n/a
19	chr5:177614382-177614432	HNPCEpiC	eye:	n/a
20	chr5:177614382-177614432	MCF-7	breast:	n/a
21	chr5:177614382-177614432	HAEpiC	amniotic membrane:	n/a
22	chr5:177614382-177614432	GM06990	blood:	n/a
23	chr5:177614382-177614432	U87	brain:	n/a
24	chr5:177614382-177614432	PANC-1	pancreas:	n/a
25	chr5:177614382-177614432	HCM	heart:	n/a
26	chr5:177614382-177614432	CMK	blood:	n/a
27	chr5:177614382-177614432	SAEC	small airway:	n/a
28	chr5:177614382-177614432	NB4	blood:	n/a
29	chr5:177614382-177614432	AG09309	skin:	n/a
30	chr5:177614382-177614432	HCF	heart:	n/a
31	chr5:177614382-177614432	NT2-D1	testis:	n/a
32	chr5:177614382-177614432	GM19239	blood:	n/a
33	chr5:177614382-177614432	BE2_C	brain:	n/a
34	chr5:177614382-177614432	BJ	skin:	n/a
35	chr5:177614382-177614432	HCT-116	colon:	n/a
36	chr5:177614382-177614432	NHBE	bronchial:	n/a
37	chr5:177614382-177614432	HCPEpiC	choroid plexus:	n/a
38	chr5:177614382-177614432	MCF10A-Er-Src	breast:	n/a
39	chr5:177614382-177614432	HRCEpiC	kidney:	n/a
40	chr5:177614382-177614432	LNCaP	prostate:	n/a
41	chr5:177614382-177614432	PFSK-1	brain:	n/a
42	chr5:177614382-177614432	HRE	kidney:	n/a
43	chr5:177614382-177614432	HIPEpiC	eye:	n/a
44	chr5:177614382-177614432	PrEC	prostate:	n/a
45	chr5:177614382-177614432	T-47D	breast:	n/a
46	chr5:177614382-177614432	Caco-2	colon:	n/a
47	chr5:177614382-177614432	GM12878	blood:	n/a
48	chr5:177614382-177614432	IMR90	lung:	fetal
49	chr5:177614382-177614432	SK-N-SH_RA	brain:	n/a
50	chr5:177614382-177614432	HepG2	liver:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:177613072..177615957-chr5:177659065..177661764,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AGXT2L2-1	chr5:177611511-177614433	NONHSAT105522

No data

Variant related genes	Relation type
GMCL1P1	TF binding region
GMCL1P1	CpG island
ENSG00000175309	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10903278	1.00[AMR][1000 genomes]
rs10903279	1.00[AMR][1000 genomes]
rs6881163	1.00[AMR][1000 genomes]
rs73804708	1.00[AMR][1000 genomes]
rs7715462	1.00[AMR][1000 genomes]
rs9329131	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv883190	chr5:177532201-177620189	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv1017664	chr5:177578194-177633116	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	93 gene(s)	inside rSNPs	diseases
6	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
7	nsv883193	chr5:177591495-177620189	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv883194	chr5:177604268-177620189	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177609800-177621000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:177613000-177614400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr5:177613000-177614400	Enhancers	Primary hematopoietic stem cells	blood
4	chr5:177613400-177614400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr5:177613800-177614400	Enhancers	Esophagus	oesophagus
6	chr5:177614000-177614400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr5:177614000-177620000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr5:177614200-177614600	Weak transcription	Monocytes-CD14+_RO01746	blood

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