Variant report

Variant	rs55637397
Chromosome Location	chr12:50014181-50014182
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:50014178-50014228	HRPEpiC	eye:	n/a
2	chr12:50014178-50014228	NT2-D1	testis:	n/a
3	chr12:50014178-50014228	RPTEC	kidney:	n/a
4	chr12:50014178-50014228	NH-A	brain:	n/a
5	chr12:50014178-50014228	HMEC	breast:	n/a
6	chr12:50014178-50014228	MCF-7	breast:	n/a
7	chr12:50014178-50014228	Caco-2	colon:	n/a
8	chr12:50014178-50014228	HPAEpiC	pulmonary alveolar:	n/a
9	chr12:50014178-50014228	SK-N-SH_RA	brain:	n/a
10	chr12:50014178-50014228	BE2_C	brain:	n/a
11	chr12:50014178-50014228	GM06990	blood:	n/a
12	chr12:50014178-50014228	LNCaP	prostate:	n/a
13	chr12:50014178-50014228	U87	brain:	n/a
14	chr12:50014178-50014228	HepG2	liver:	n/a
15	chr12:50014178-50014228	Jurkat	blood:	n/a
16	chr12:50014178-50014228	HRE	kidney:	n/a
17	chr12:50014178-50014228	PrEC	prostate:	n/a
18	chr12:50014178-50014228	AG04450	lung:	fetal
19	chr12:50014178-50014228	AG09319	gingival:	n/a
20	chr12:50014178-50014228	SK-N-MC	brain:	n/a
21	chr12:50014178-50014228	HL-60	blood:	n/a
22	chr12:50014178-50014228	IMR90	lung:	fetal
23	chr12:50014178-50014228	GM12878	blood:	n/a
24	chr12:50014178-50014228	HEK293	kidney:	embryo
25	chr12:50014178-50014228	NHBE	bronchial:	n/a
26	chr12:50014178-50014228	AG10803	skin:	n/a
27	chr12:50014178-50014228	SKMC	muscle:	n/a
28	chr12:50014178-50014228	NB4	blood:	n/a
29	chr12:50014178-50014228	GM12891	blood:	n/a
30	chr12:50014178-50014228	A549	lung:	n/a
31	chr12:50014178-50014228	ECC-1	luminal epithelium:	n/a
32	chr12:50014178-50014228	SAEC	small airway:	n/a
33	chr12:50014178-50014228	PANC-1	pancreas:	n/a
34	chr12:50014178-50014228	GM12892	blood:	n/a
35	chr12:50014178-50014228	HAEpiC	amniotic membrane:	n/a
36	chr12:50014178-50014228	HNPCEpiC	eye:	n/a
37	chr12:50014178-50014228	BJ	skin:	n/a
38	chr12:50014178-50014228	T-47D	breast:	n/a
39	chr12:50014178-50014228	PFSK-1	brain:	n/a
40	chr12:50014178-50014228	AG04449	skin:	fetal
41	chr12:50014178-50014228	HRCEpiC	kidney:	n/a
42	chr12:50014178-50014228	H1-hESC	embryonic stem cell:	embryo
43	chr12:50014178-50014228	HCT-116	colon:	n/a
44	chr12:50014178-50014228	HEEpiC	esophagus:	n/a
45	chr12:50014178-50014228	GM19239	blood:	n/a
46	chr12:50014178-50014228	Hepatocyte	liver:	n/a
47	chr12:50014178-50014228	ovcar-3	ovarian:	n/a
48	chr12:50014178-50014228	NHDF-neo	bronchial:	n/a
49	chr12:50014178-50014228	AG09309	skin:	n/a
50	chr12:50014178-50014228	AoSMC	blood vessel:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:49960207..49964959-chr12:50014167..50018580,9	MCF-7	breast:
2	chr12:50009212..50015291-chr12:50015627..50018500,8	MCF-7	breast:
3	chr12:50013164..50015559-chr12:50134693..50137304,3	K562	blood:
4	chr12:49984018..49986358-chr12:50013699..50016395,2	K562	blood:
5	chr12:50013338..50015401-chr12:50135735..50137304,2	K562	blood:
6	chr12:49657602..49660330-chr12:50012266..50014334,2	K562	blood:

No data

Variant related genes	Relation type
PRPF40B	CpG island
ENSG00000258101	Chromatin interaction
ENSG00000110844	Chromatin interaction
ENSG00000139644	Chromatin interaction
ENSG00000167553	Chromatin interaction
ENSG00000187778	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1012874	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10506287	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10506288	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169126	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169143	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169145	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11830696	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11836837	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11837639	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12306422	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12306430	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12306481	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12307828	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12313354	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12315524	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12317778	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1317131	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17123764	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17123927	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17123970	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1993398	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2336447	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4641552	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56737983	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56743994	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56906356	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56945609	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57291131	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58756176	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59261129	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60094911	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60126713	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60415769	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60613973	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61281663	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7298080	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74086906	0.90[AFR][1000 genomes]
rs74086911	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74087113	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74087134	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74087188	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs74089557	0.86[ASN][1000 genomes]
rs74089564	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74089566	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74089570	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74089573	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7487779	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7487854	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7953412	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7964320	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7967073	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7968302	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7970674	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7971176	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7971369	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7973498	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9805063	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832406	chr12:49860693-50062136	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv482795	chr12:49897633-50068686	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
4	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49982600-50015400	Weak transcription	Pancreas	Pancrea
2	chr12:50003800-50015400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:50011000-50015400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:50011000-50015600	Weak transcription	Liver	Liver
5	chr12:50011200-50015000	Weak transcription	HepG2	liver
6	chr12:50013000-50014800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:50013000-50015400	Weak transcription	Adipose Nuclei	Adipose
8	chr12:50013200-50015400	Weak transcription	Placenta	Placenta
9	chr12:50013400-50014800	Weak transcription	NHEK	skin
10	chr12:50013400-50015000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:50013400-50015000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:50013400-50015000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr12:50013400-50015200	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr12:50013400-50015200	Weak transcription	HMEC	breast
15	chr12:50013400-50015400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:50013400-50015600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr12:50013400-50015600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr12:50013400-50016000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:50013400-50016200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr12:50013600-50015200	Weak transcription	Fetal Stomach	stomach
21	chr12:50013600-50015400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links