Variant report

Variant	rs74012893
Chromosome Location	chr15:50412454-50412455
allele	A/C
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:4)
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	chr15:50412411-50412461	LNCaP	prostate:	n/a
2	chr15:50412411-50412461	MCF-7	breast:	n/a
3	chr15:50412411-50412461	NT2-D1	testis:	n/a
4	chr15:50412411-50412461	K562	blood:	n/a
5	chr15:50412411-50412461	GM12892	blood:	n/a
6	chr15:50412411-50412461	HMEC	breast:	n/a
7	chr15:50412411-50412461	HepG2	liver:	n/a
8	chr15:50412411-50412461	HCM	heart:	n/a
9	chr15:50412411-50412461	HEK293	kidney:	embryo
10	chr15:50412411-50412461	ProgFib	skin:	n/a
11	chr15:50412411-50412461	NHBE	bronchial:	n/a
12	chr15:50412411-50412461	PFSK-1	brain:	n/a
13	chr15:50412411-50412461	SAEC	small airway:	n/a
14	chr15:50412411-50412461	MCF10A-Er-Src	breast:	n/a
15	chr15:50412411-50412461	NH-A	brain:	n/a
16	chr15:50412411-50412461	HRPEpiC	eye:	n/a
17	chr15:50412411-50412461	SKMC	muscle:	n/a
18	chr15:50412411-50412461	NHDF-neo	bronchial:	n/a
19	chr15:50412411-50412461	SK-N-SH	brain:	n/a
20	chr15:50412411-50412461	HRE	kidney:	n/a
21	chr15:50412411-50412461	Hepatocyte	liver:	n/a
22	chr15:50412411-50412461	HCT-116	colon:	n/a
23	chr15:50412411-50412461	HRCEpiC	kidney:	n/a
24	chr15:50412411-50412461	HNPCEpiC	eye:	n/a
25	chr15:50412411-50412461	BJ	skin:	n/a
26	chr15:50412411-50412461	A549	lung:	n/a
27	chr15:50412411-50412461	NB4	blood:	n/a
28	chr15:50412411-50412461	T-47D	breast:	n/a
29	chr15:50412411-50412461	PANC-1	pancreas:	n/a
30	chr15:50412411-50412461	HCF	heart:	n/a
31	chr15:50412411-50412461	U87	brain:	n/a
32	chr15:50412411-50412461	AG10803	skin:	n/a
33	chr15:50412411-50412461	AG04449	skin:	fetal
34	chr15:50412411-50412461	AG04450	lung:	fetal
35	chr15:50412411-50412461	BE2_C	brain:	n/a
36	chr15:50412411-50412461	GM12878	blood:	n/a
37	chr15:50412411-50412461	AoSMC	blood vessel:	n/a
38	chr15:50412411-50412461	RPTEC	kidney:	n/a
39	chr15:50412411-50412461	HEEpiC	esophagus:	n/a
40	chr15:50412411-50412461	IMR90	lung:	fetal
41	chr15:50412411-50412461	HL-60	blood:	n/a
42	chr15:50412411-50412461	SK-N-MC	brain:	n/a
43	chr15:50412411-50412461	ovcar-3	ovarian:	n/a
44	chr15:50412411-50412461	HIPEpiC	eye:	n/a
45	chr15:50412411-50412461	Jurkat	blood:	n/a
46	chr15:50412411-50412461	PrEC	prostate:	n/a
47	chr15:50412411-50412461	SK-N-SH_RA	brain:	n/a
48	chr15:50412411-50412461	HPAEpiC	pulmonary alveolar:	n/a
49	chr15:50412411-50412461	GM06990	blood:	n/a
50	chr15:50412411-50412461	AG09319	gingival:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:50404854..50406418-chr15:50412417..50415178,2	K562	blood:
2	chr15:50410321..50412713-chr15:50646391..50648447,2	MCF-7	breast:
3	chr15:50406613..50408272-chr15:50412267..50414465,2	MCF-7	breast:
4	chr15:50412283..50414129-chr15:50422080..50423957,2	MCF-7	breast:

No data

Variant related genes	Relation type
ATP8B4	CpG island
ENSG00000244879	Chromatin interaction
ENSG00000104064	Chromatin interaction
ENSG00000104043	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs56328913	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58724726	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs74012175	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs74012177	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs74012892	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74012898	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs74012900	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs74012902	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs74015203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs74015210	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8042084	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044277	chr15:49921547-50702386	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542380	chr15:49921547-50702386	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv1035983	chr15:50223334-50595170	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv542382	chr15:50223334-50595170	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv569395	chr15:50345393-50437494	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50411200-50412600	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr15:50411400-50413800	Enhancers	Hela-S3	cervix
3	chr15:50411600-50412600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr15:50411600-50412800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr15:50411800-50412600	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr15:50411800-50416400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr15:50411800-50417600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr15:50411800-50418400	Weak transcription	A549	lung
9	chr15:50412000-50412600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr15:50412000-50415800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr15:50412000-50416800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr15:50412000-50417000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr15:50412200-50412600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr15:50412200-50413000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr15:50412400-50412600	Enhancers	Primary B cells from cord blood	blood
16	chr15:50412400-50415600	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr15:50412400-50416400	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr15:50412400-50419400	Weak transcription	Monocytes-CD14+_RO01746	blood

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