Variant report

Variant	rs2967370
Chromosome Location	chr16:82206458-82206459
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:82206334-82206533	MCF10A-Er-Src	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:82206435-82206485	AG04450	lung:	fetal
2	chr16:82206435-82206485	IMR90	lung:	fetal
3	chr16:82206435-82206485	NHDF-neo	bronchial:	n/a
4	chr16:82206435-82206485	BE2_C	brain:	n/a
5	chr16:82206435-82206485	HEK293	kidney:	embryo
6	chr16:82206435-82206485	SAEC	small airway:	n/a
7	chr16:82206435-82206485	HCPEpiC	choroid plexus:	n/a
8	chr16:82206435-82206485	AG04449	skin:	fetal
9	chr16:82206435-82206485	Jurkat	blood:	n/a
10	chr16:82206435-82206485	HRCEpiC	kidney:	n/a
11	chr16:82206435-82206485	NHBE	bronchial:	n/a
12	chr16:82206435-82206485	ECC-1	luminal epithelium:	n/a
13	chr16:82206435-82206485	SKMC	muscle:	n/a
14	chr16:82206435-82206485	AoSMC	blood vessel:	n/a
15	chr16:82206435-82206485	HNPCEpiC	eye:	n/a
16	chr16:82206435-82206485	ovcar-3	ovarian:	n/a
17	chr16:82206435-82206485	SK-N-MC	brain:	n/a
18	chr16:82206435-82206485	AG09319	gingival:	n/a
19	chr16:82206435-82206485	HEEpiC	esophagus:	n/a
20	chr16:82206435-82206485	GM19239	blood:	n/a
21	chr16:82206435-82206485	HRE	kidney:	n/a
22	chr16:82206435-82206485	HUVEC	blood vessel:	n/a
23	chr16:82206435-82206485	MCF-7	breast:	n/a
24	chr16:82206435-82206485	NH-A	brain:	n/a
25	chr16:82206435-82206485	BJ	skin:	n/a
26	chr16:82206435-82206485	PrEC	prostate:	n/a
27	chr16:82206435-82206485	RPTEC	kidney:	n/a
28	chr16:82206435-82206485	GM06990	blood:	n/a
29	chr16:82206435-82206485	HL-60	blood:	n/a
30	chr16:82206435-82206485	Caco-2	colon:	n/a
31	chr16:82206435-82206485	H1-hESC	embryonic stem cell:	embryo
32	chr16:82206435-82206485	PANC-1	pancreas:	n/a
33	chr16:82206435-82206485	SK-N-SH_RA	brain:	n/a
34	chr16:82206435-82206485	GM12892	blood:	n/a
35	chr16:82206435-82206485	LNCaP	prostate:	n/a
36	chr16:82206435-82206485	MCF10A-Er-Src	breast:	n/a
37	chr16:82206435-82206485	CMK	blood:	n/a
38	chr16:82206435-82206485	SK-N-SH	brain:	n/a
39	chr16:82206435-82206485	GM12878	blood:	n/a
40	chr16:82206435-82206485	HCF	heart:	n/a
41	chr16:82206435-82206485	Hepatocyte	liver:	n/a
42	chr16:82206435-82206485	HCT-116	colon:	n/a
43	chr16:82206435-82206485	HCM	heart:	n/a
44	chr16:82206435-82206485	K562	blood:	n/a
45	chr16:82206435-82206485	HRPEpiC	eye:	n/a
46	chr16:82206435-82206485	NB4	blood:	n/a
47	chr16:82206435-82206485	T-47D	breast:	n/a
48	chr16:82206435-82206485	HMEC	breast:	n/a
49	chr16:82206435-82206485	HPAEpiC	pulmonary alveolar:	n/a
50	chr16:82206435-82206485	A549	lung:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:82203485..82205710-chr16:82205973..82207992,2	K562	blood:
2	chr16:82202012..82204954-chr16:82205071..82206681,2	MCF-7	breast:

No data

Variant related genes	Relation type
MPHOSPH6	TF binding region
MPHOSPH6	CpG island
ENSG00000135698	Chromatin interaction
ENSG00000261029	Chromatin interaction

Extended variants
information (count: 97 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs1056675	0.81[CEU][hapmap];0.81[CHB][hapmap];0.80[JPT][hapmap];0.82[ASN][1000 genomes]
rs1064208	0.82[ASN][1000 genomes]
rs10871424	0.90[ASN][1000 genomes]
rs10871425	0.84[ASN][1000 genomes]
rs12445041	0.92[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.98[TSI][hapmap];0.92[EUR][1000 genomes]
rs12446210	0.81[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap];0.87[ASN][1000 genomes]
rs12447195	0.92[ASN][1000 genomes]
rs12448920	0.90[EUR][1000 genomes]
rs12598637	0.92[CEU][hapmap];0.86[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];0.83[MEX][hapmap];0.98[TSI][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1424155	0.89[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1424156	0.97[ASN][1000 genomes]
rs1559425	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1559426	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17232243	0.81[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs17232307	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs17232342	0.90[ASN][1000 genomes]
rs1834053	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1834054	0.92[ASN][1000 genomes]
rs1862820	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1862822	0.88[CEU][hapmap];0.88[EUR][1000 genomes]
rs1987155	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2303266	0.92[CEU][hapmap];0.86[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.98[TSI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2911378	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2911379	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2911380	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2911381	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2911382	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2911383	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2911385	0.87[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2911386	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2911388	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2911389	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2911391	0.89[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.91[TSI][hapmap];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2911392	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2911393	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2911394	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2911395	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2911396	1.00[CEU][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2911397	0.96[ASN][1000 genomes]
rs2911398	0.97[ASN][1000 genomes]
rs2911399	0.97[ASN][1000 genomes]
rs2911400	0.97[ASN][1000 genomes]
rs2911401	0.92[ASN][1000 genomes]
rs2911403	0.98[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2911404	0.92[ASN][1000 genomes]
rs2911409	0.81[ASN][1000 genomes]
rs2967327	0.88[CEU][hapmap];0.88[EUR][1000 genomes]
rs2967332	0.87[EUR][1000 genomes]
rs2967365	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2967366	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2967367	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2967369	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2967371	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2967376	0.97[ASN][1000 genomes]
rs2967378	0.97[ASN][1000 genomes]
rs2967379	0.97[ASN][1000 genomes]
rs2967380	0.97[ASN][1000 genomes]
rs2967381	0.96[ASN][1000 genomes]
rs2967382	0.97[ASN][1000 genomes]
rs3829545	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3829546	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3829547	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3829549	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3829550	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3898333	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs41534745	0.87[TSI][hapmap]
rs4888208	0.92[EUR][1000 genomes]
rs4889476	0.92[CEU][hapmap];0.86[CHB][hapmap];0.88[CHD][hapmap];0.98[GIH][hapmap];0.81[JPT][hapmap];0.95[TSI][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4999637	0.92[ASN][1000 genomes]
rs56116174	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60960296	0.97[ASN][1000 genomes]
rs7205347	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7206501	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs918759	0.89[ASW][hapmap];0.82[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];0.87[MEX][hapmap];0.85[MKK][hapmap];0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs918760	0.95[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs918761	0.84[ASN][1000 genomes]
rs918763	0.86[ASN][1000 genomes]
rs959837	0.97[ASN][1000 genomes]
rs959838	0.97[ASN][1000 genomes]
rs978970	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs978971	0.88[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9938830	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532598	chr16:82034475-82738733	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv532599	chr16:82074439-82926863	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
3	nsv573367	chr16:82140561-83040846	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
4	nsv457579	chr16:82150293-82216622	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv573368	chr16:82150293-82216622	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv525467	chr16:82154619-82223485	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv1061064	chr16:82165314-82213799	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv1056381	chr16:82165314-82215388	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv1062687	chr16:82165516-82213799	Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv518129	chr16:82188173-82228076	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	nsv833302	chr16:82188351-82363863	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	esv1844598	chr16:82195234-82429790	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	esv1847414	chr16:82195234-82429790	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	nsv532600	chr16:82197554-82314289	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
15	nsv907015	chr16:82203758-82284056	Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2967370	MPHOSPH6	cis	multi-tissue	Pritchard
rs2967370	MPHOSPH6	cis	parietal	SCAN
rs2967370	MPHOSPH6	cis	lymphoblastoid	seeQTL
rs2967370	MPHOSPH6	cis	Stomach	GTEx
rs2967370	MPHOSPH6	Cis_1M	lymphoblastoid	RTeQTL

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

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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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