Variant report

Variant	rs12131740
Chromosome Location	chr1:170084238-170084239
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr1:170084080-170084356	SK-N-SH	brain:	n/a	chr1:170084252-170084266 chr1:170084246-170084266 chr1:170084249-170084262 chr1:170084246-170084266 chr1:170084246-170084266 chr1:170084247-170084265
2	REST	chr1:170083986-170084413	U87	brain:	n/a	chr1:170084252-170084266 chr1:170084246-170084266 chr1:170084249-170084262 chr1:170084246-170084266 chr1:170084246-170084266 chr1:170084247-170084265
3	REST	chr1:170084124-170084339	HepG2	liver:	n/a	chr1:170084252-170084266 chr1:170084246-170084266 chr1:170084249-170084262 chr1:170084246-170084266 chr1:170084246-170084266 chr1:170084247-170084265
4	REST	chr1:170083959-170084873	MCF-7	breast:	n/a	chr1:170084252-170084266 chr1:170084246-170084266 chr1:170084249-170084262 chr1:170084632-170084645 chr1:170084246-170084266 chr1:170084246-170084266 chr1:170084247-170084265
5	REST	chr1:170084098-170084373	U87	brain:	n/a	chr1:170084252-170084266 chr1:170084246-170084266 chr1:170084249-170084262 chr1:170084246-170084266 chr1:170084246-170084266 chr1:170084247-170084265
6	REST	chr1:170084098-170084414	U87	brain:	n/a	chr1:170084252-170084266 chr1:170084246-170084266 chr1:170084249-170084262 chr1:170084246-170084266 chr1:170084246-170084266 chr1:170084247-170084265
7	REST	chr1:170084119-170084366	GM12878	blood:	n/a	chr1:170084252-170084266 chr1:170084246-170084266 chr1:170084249-170084262 chr1:170084246-170084266 chr1:170084246-170084266 chr1:170084247-170084265
8	REST	chr1:170083965-170084497	HepG2	liver:	n/a	chr1:170084252-170084266 chr1:170084246-170084266 chr1:170084249-170084262 chr1:170084246-170084266 chr1:170084246-170084266 chr1:170084247-170084265
9	ZNF143	chr1:170084198-170084355	GM12878	blood:	n/a	n/a
10	REST	chr1:170084048-170084387	A549	lung:	n/a	chr1:170084252-170084266 chr1:170084246-170084266 chr1:170084249-170084262 chr1:170084246-170084266 chr1:170084246-170084266 chr1:170084247-170084265
11	REST	chr1:170084138-170084369	K562	blood:	n/a	chr1:170084252-170084266 chr1:170084246-170084266 chr1:170084249-170084262 chr1:170084246-170084266 chr1:170084246-170084266 chr1:170084247-170084265
12	REST	chr1:170083943-170084567	PANC-1	pancreas:	n/a	chr1:170084252-170084266 chr1:170084246-170084266 chr1:170084249-170084262 chr1:170084246-170084266 chr1:170084246-170084266 chr1:170084247-170084265
13	REST	chr1:170084044-170084450	H1-hESC	embryonic stem cell:	n/a	chr1:170084252-170084266 chr1:170084246-170084266 chr1:170084249-170084262 chr1:170084246-170084266 chr1:170084246-170084266 chr1:170084247-170084265
14	REST	chr1:170084081-170084293	PANC-1	pancreas:	n/a	chr1:170084252-170084266 chr1:170084246-170084266 chr1:170084249-170084262 chr1:170084246-170084266 chr1:170084246-170084266 chr1:170084247-170084265
15	GATA3	chr1:170083998-170084332	T-47D	breast:	n/a	n/a
16	REST	chr1:170083896-170084535	Hela-S3	cervix:	n/a	chr1:170084252-170084266 chr1:170084246-170084266 chr1:170084249-170084262 chr1:170084246-170084266 chr1:170084246-170084266 chr1:170084247-170084265
17	REST	chr1:170083979-170084825	SK-N-SH	brain:	n/a	chr1:170084252-170084266 chr1:170084246-170084266 chr1:170084249-170084262 chr1:170084632-170084645 chr1:170084246-170084266 chr1:170084246-170084266 chr1:170084247-170084265
18	REST	chr1:170083783-170084788	HL-60	blood:	n/a	chr1:170084252-170084266 chr1:170084246-170084266 chr1:170084249-170084262 chr1:170084632-170084645 chr1:170084246-170084266 chr1:170084246-170084266 chr1:170084247-170084265
19	REST	chr1:170084024-170084485	PFSK-1	brain:	n/a	chr1:170084252-170084266 chr1:170084246-170084266 chr1:170084249-170084262 chr1:170084246-170084266 chr1:170084246-170084266 chr1:170084247-170084265
20	REST	chr1:170083999-170084550	HCT-116	colon:	n/a	chr1:170084252-170084266 chr1:170084246-170084266 chr1:170084249-170084262 chr1:170084246-170084266 chr1:170084246-170084266 chr1:170084247-170084265
21	REST	chr1:170083979-170084621	HCT-116	colon:	n/a	chr1:170084252-170084266 chr1:170084246-170084266 chr1:170084249-170084262 chr1:170084246-170084266 chr1:170084246-170084266 chr1:170084247-170084265
22	REST	chr1:170083799-170084822	ECC-1	luminal epithelium:	n/a	chr1:170084252-170084266 chr1:170084246-170084266 chr1:170084249-170084262 chr1:170084632-170084645 chr1:170084246-170084266 chr1:170084246-170084266 chr1:170084247-170084265
23	REST	chr1:170084090-170084309	PANC-1	pancreas:	n/a	chr1:170084252-170084266 chr1:170084246-170084266 chr1:170084249-170084262 chr1:170084246-170084266 chr1:170084246-170084266 chr1:170084247-170084265
24	REST	chr1:170084017-170084691	HL-60	blood:	n/a	chr1:170084252-170084266 chr1:170084246-170084266 chr1:170084249-170084262 chr1:170084632-170084645 chr1:170084246-170084266 chr1:170084246-170084266 chr1:170084247-170084265
25	REST	chr1:170083927-170084553	PANC-1	pancreas:	n/a	chr1:170084252-170084266 chr1:170084246-170084266 chr1:170084249-170084262 chr1:170084246-170084266 chr1:170084246-170084266 chr1:170084247-170084265
26	REST	chr1:170083681-170084830	MCF-7	breast:	n/a	chr1:170084252-170084266 chr1:170084246-170084266 chr1:170084249-170084262 chr1:170084632-170084645 chr1:170084246-170084266 chr1:170084246-170084266 chr1:170084247-170084265
27	POLR2A	chr1:170084175-170084265	ProgFib	skin:	n/a	n/a
28	REST	chr1:170084000-170084409	H1-hESC	embryonic stem cell:	n/a	chr1:170084252-170084266 chr1:170084246-170084266 chr1:170084249-170084262 chr1:170084246-170084266 chr1:170084246-170084266 chr1:170084247-170084265
29	REST	chr1:170084037-170084430	K562	blood:	n/a	chr1:170084252-170084266 chr1:170084246-170084266 chr1:170084249-170084262 chr1:170084246-170084266 chr1:170084246-170084266 chr1:170084247-170084265
30	REST	chr1:170084132-170084332	GM12878	blood:	n/a	chr1:170084252-170084266 chr1:170084246-170084266 chr1:170084249-170084262 chr1:170084246-170084266 chr1:170084246-170084266 chr1:170084247-170084265
31	REST	chr1:170083903-170084538	A549	lung:	n/a	chr1:170084252-170084266 chr1:170084246-170084266 chr1:170084249-170084262 chr1:170084246-170084266 chr1:170084246-170084266 chr1:170084247-170084265
32	MAX	chr1:170084030-170084495	MCF-7	breast:	n/a	n/a
33	REST	chr1:170083920-170084906	PFSK-1	brain:	n/a	chr1:170084252-170084266 chr1:170084246-170084266 chr1:170084249-170084262 chr1:170084632-170084645 chr1:170084246-170084266 chr1:170084246-170084266 chr1:170084247-170084265
34	REST	chr1:170083880-170085001	PFSK-1	brain:	n/a	chr1:170084252-170084266 chr1:170084246-170084266 chr1:170084249-170084262 chr1:170084632-170084645 chr1:170084246-170084266 chr1:170084246-170084266 chr1:170084247-170084265
35	MAX	chr1:170084161-170084370	H1-hESC	embryonic stem cell:	n/a	n/a
36	REST	chr1:170083966-170084460	PFSK-1	brain:	n/a	chr1:170084252-170084266 chr1:170084246-170084266 chr1:170084249-170084262 chr1:170084246-170084266 chr1:170084246-170084266 chr1:170084247-170084265
37	ZNF143	chr1:170084092-170084373	H1-hESC	embryonic stem cell:	n/a	n/a
38	TEAD4	chr1:170083977-170084511	A549	lung:	n/a	n/a
39	GATA3	chr1:170083928-170084426	MCF-7	breast:	n/a	n/a
40	REST	chr1:170083984-170084413	U87	brain:	n/a	chr1:170084252-170084266 chr1:170084246-170084266 chr1:170084249-170084262 chr1:170084246-170084266 chr1:170084246-170084266 chr1:170084247-170084265
41	GATA3	chr1:170084029-170084346	T-47D	breast:	n/a	n/a
42	REST	chr1:170084056-170084447	SK-N-SH	brain:	n/a	chr1:170084252-170084266 chr1:170084246-170084266 chr1:170084249-170084262 chr1:170084246-170084266 chr1:170084246-170084266 chr1:170084247-170084265
43	REST	chr1:170084027-170084634	HepG2	liver:	n/a	chr1:170084252-170084266 chr1:170084246-170084266 chr1:170084249-170084262 chr1:170084246-170084266 chr1:170084246-170084266 chr1:170084247-170084265
44	REST	chr1:170084027-170084435	Hela-S3	cervix:	n/a	chr1:170084252-170084266 chr1:170084246-170084266 chr1:170084249-170084262 chr1:170084246-170084266 chr1:170084246-170084266 chr1:170084247-170084265
45	REST	chr1:170084162-170084307	PANC-1	pancreas:	n/a	chr1:170084252-170084266 chr1:170084246-170084266 chr1:170084249-170084262 chr1:170084246-170084266 chr1:170084246-170084266 chr1:170084247-170084265
46	REST	chr1:170084114-170084372	HepG2	liver:	n/a	chr1:170084252-170084266 chr1:170084246-170084266 chr1:170084249-170084262 chr1:170084246-170084266 chr1:170084246-170084266 chr1:170084247-170084265
47	REST	chr1:170083883-170084944	ECC-1	luminal epithelium:	n/a	chr1:170084252-170084266 chr1:170084246-170084266 chr1:170084249-170084262 chr1:170084632-170084645 chr1:170084246-170084266 chr1:170084246-170084266 chr1:170084247-170084265
48	MYC	chr1:170084194-170084394	MCF10A-Er-Src	breast:	n/a	n/a
49	REST	chr1:170083978-170084512	GM12878	blood:	n/a	chr1:170084252-170084266 chr1:170084246-170084266 chr1:170084249-170084262 chr1:170084246-170084266 chr1:170084246-170084266 chr1:170084247-170084265
50	REST	chr1:170084077-170084369	GM12878	blood:	n/a	chr1:170084252-170084266 chr1:170084246-170084266 chr1:170084249-170084262 chr1:170084246-170084266 chr1:170084246-170084266 chr1:170084247-170084265

Variant related genes	Relation type
SIGLEC30P	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11799803	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs11800956	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs11805430	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11806707	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs11807053	1.00[ASN][1000 genomes]
rs12117197	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12117652	0.80[CEU][hapmap];0.85[YRI][hapmap]
rs12117699	0.80[CEU][hapmap]
rs12117892	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12120443	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12120485	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12126443	0.80[CEU][hapmap];0.85[YRI][hapmap]
rs12131296	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12131638	0.80[CEU][hapmap]
rs12132888	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12133861	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12134995	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12135070	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12141461	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12144057	0.80[CEU][hapmap];0.85[YRI][hapmap]
rs12144085	0.80[CEU][hapmap];0.85[YRI][hapmap]
rs12145948	0.80[CEU][hapmap];0.85[YRI][hapmap]
rs6703198	1.00[JPT][hapmap]
rs7519877	1.00[ASN][1000 genomes]
rs7528074	1.00[ASN][1000 genomes]
rs7549000	0.85[YRI][hapmap]

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	nsv1014033	chr1:169968488-170453021	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535200	chr1:169968488-170453021	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv999310	chr1:170065943-170223350	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12131740	C1orf156	cis	lymphoblastoid	seeQTL

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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