Variant report

Variant	rs1504522
Chromosome Location	chr14:77647071-77647072
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr14:77646993-77648051	PBDE	blood:	n/a	n/a
2	MXI1	chr14:77647065-77649126	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	chr14:77647063-77647113	SKMC	muscle:	n/a
2	chr14:77647063-77647113	HAEpiC	amniotic membrane:	n/a
3	chr14:77647063-77647113	BJ	skin:	n/a
4	chr14:77647063-77647113	GM06990	blood:	n/a
5	chr14:77647063-77647113	HRPEpiC	eye:	n/a
6	chr14:77647063-77647113	HCT-116	colon:	n/a
7	chr14:77647063-77647113	SK-N-SH	brain:	n/a
8	chr14:77647063-77647113	H1-hESC	embryonic stem cell:	embryo
9	chr14:77647063-77647113	HCF	heart:	n/a
10	chr14:77647063-77647113	AG10803	skin:	n/a
11	chr14:77647063-77647113	SK-N-SH_RA	brain:	n/a
12	chr14:77647063-77647113	U87	brain:	n/a
13	chr14:77647063-77647113	AoSMC	blood vessel:	n/a
14	chr14:77647063-77647113	PFSK-1	brain:	n/a
15	chr14:77647063-77647113	ovcar-3	ovarian:	n/a
16	chr14:77647063-77647113	HEK293	kidney:	embryo
17	chr14:77647063-77647113	HUVEC	blood vessel:	n/a
18	chr14:77647063-77647113	NHBE	bronchial:	n/a
19	chr14:77647063-77647113	HNPCEpiC	eye:	n/a
20	chr14:77647063-77647113	K562	blood:	n/a
21	chr14:77647063-77647113	Caco-2	colon:	n/a
22	chr14:77647063-77647113	HMEC	breast:	n/a
23	chr14:77647063-77647113	HCM	heart:	n/a
24	chr14:77647063-77647113	HRCEpiC	kidney:	n/a
25	chr14:77647063-77647113	HRE	kidney:	n/a
26	chr14:77647063-77647113	AG04450	lung:	fetal
27	chr14:77647063-77647113	SK-N-MC	brain:	n/a
28	chr14:77647063-77647113	HCPEpiC	choroid plexus:	n/a
29	chr14:77647063-77647113	AG09309	skin:	n/a
30	chr14:77647063-77647113	A549	lung:	n/a
31	chr14:77647063-77647113	Hela-S3	cervix:	n/a
32	chr14:77647063-77647113	AG09319	gingival:	n/a
33	chr14:77647063-77647113	CMK	blood:	n/a
34	chr14:77647063-77647113	HPAEpiC	pulmonary alveolar:	n/a
35	chr14:77647063-77647113	NB4	blood:	n/a
36	chr14:77647063-77647113	GM19239	blood:	n/a
37	chr14:77647063-77647113	MCF10A-Er-Src	breast:	n/a
38	chr14:77647063-77647113	BE2_C	brain:	n/a
39	chr14:77647063-77647113	HEEpiC	esophagus:	n/a
40	chr14:77647063-77647113	RPTEC	kidney:	n/a
41	chr14:77647063-77647113	ProgFib	skin:	n/a
42	chr14:77647063-77647113	NT2-D1	testis:	n/a
43	chr14:77647063-77647113	HL-60	blood:	n/a
44	chr14:77647063-77647113	PANC-1	pancreas:	n/a
45	chr14:77647063-77647113	GM12891	blood:	n/a
46	chr14:77647063-77647113	T-47D	breast:	n/a
47	chr14:77647063-77647113	HepG2	liver:	n/a
48	chr14:77647063-77647113	AG04449	skin:	fetal
49	chr14:77647063-77647113	NH-A	brain:	n/a
50	chr14:77647063-77647113	NHDF-neo	bronchial:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr14:77640676..77643134-chr14:77646615..77650592,3	MCF-7	breast:
2	chr14:77646733..77650700-chr14:77767687..77771144,4	MCF-7	breast:
3	chr14:77646354..77648830-chr14:77666464..77668226,2	MCF-7	breast:
4	chr14:77646577..77649681-chr14:77786771..77790034,4	MCF-7	breast:
5	chr14:77644659..77647131-chr14:77754541..77756569,2	MCF-7	breast:
6	chr14:77642180..77644687-chr14:77647056..77649855,2	MCF-7	breast:
7	chr14:77646079..77647711-chr14:77656807..77658749,2	MCF-7	breast:
8	chr14:77639432..77641882-chr14:77645275..77647716,2	MCF-7	breast:

No data

Variant related genes	Relation type
TMEM63C	TF binding region
TMEM63C	CpG island
ENSG00000201384	Chromatin interaction
ENSG00000165548	Chromatin interaction
ENSG00000100577	Chromatin interaction
ENSG00000009830	Chromatin interaction
ENSG00000258552	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10143567	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs17105476	0.89[ASN][1000 genomes]
rs17750140	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2021536	0.96[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2287380	0.81[CEU][hapmap]
rs2540887	0.81[CEU][hapmap];0.85[CHB][hapmap]
rs2540891	0.95[EUR][1000 genomes]
rs2540893	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2540894	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2540895	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2540901	0.91[CEU][hapmap];0.86[JPT][hapmap];0.89[AMR][1000 genomes]
rs2655976	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2655977	0.95[EUR][1000 genomes]
rs34002218	0.95[EUR][1000 genomes]
rs34970502	0.96[AMR][1000 genomes]
rs35539735	1.00[AFR][1000 genomes]
rs367095	0.96[AMR][1000 genomes]
rs374227	0.90[CEU][hapmap];0.85[CHB][hapmap]
rs376645	0.90[CEU][hapmap];0.85[CHB][hapmap]
rs380489	1.00[CHB][hapmap]
rs382670	0.89[CEU][hapmap];0.85[CHB][hapmap]
rs382868	0.81[CEU][hapmap];0.85[CHB][hapmap]
rs384204	1.00[CHB][hapmap]
rs396750	0.90[CEU][hapmap];0.85[CHB][hapmap]
rs419630	0.90[CEU][hapmap]
rs428868	0.90[CEU][hapmap];0.85[CHB][hapmap]
rs451303	0.81[CEU][hapmap];0.85[CHB][hapmap]
rs4903561	1.00[CEU][hapmap]
rs61991616	1.00[AFR][1000 genomes]
rs71413450	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs727921	0.85[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs750932	0.90[CEU][hapmap];0.96[AMR][1000 genomes]
rs8010477	0.81[CEU][hapmap];0.85[CHB][hapmap]
rs905734	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs905735	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431017	chr14:76938089-77854647	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
2	nsv832834	chr14:77554987-77724357	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv976845	chr14:77621865-77649191	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1504522	TMEM63C	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77625600-77647200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:77642600-77647400	Weak transcription	Fetal Brain Male	brain
3	chr14:77644600-77647400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr14:77645600-77648000	Weak transcription	Right Atrium	heart
5	chr14:77646400-77647600	Weak transcription	Spleen	Spleen
6	chr14:77647000-77648000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr14:77647000-77648000	Enhancers	Esophagus	oesophagus

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