Variant report

Variant	rs8051439
Chromosome Location	chr16:71495793-71495794
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:249)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:249 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD1	chr16:71495739-71495938	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr16:71495116-71496480	U87	brain:	n/a	n/a
3	MYC	chr16:71495529-71496388	MCF10A-Er-Src	breast:	n/a	chr16:71496345-71496354
4	MYBL2	chr16:71495707-71496477	HepG2	liver:	n/a	n/a
5	PAX5	chr16:71495779-71496477	GM12878	blood:	n/a	n/a
6	JUND	chr16:71495772-71496392	K562	blood:	n/a	n/a
7	MYC	chr16:71495529-71496434	K562	blood:	n/a	chr16:71496345-71496354
8	POLR2A	chr16:71495783-71496391	A549	lung:	n/a	n/a
9	SIN3AK20	chr16:71495636-71496559	MCF-7	breast:	n/a	n/a
10	TAF1	chr16:71495783-71496374	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr16:71495376-71496488	GM12878	blood:	n/a	n/a
12	POLR2A	chr16:71495787-71496445	GM10847	blood:	n/a	n/a
13	GABPA	chr16:71495513-71496384	Hela-S3	cervix:	n/a	n/a
14	NFYB	chr16:71495724-71495983	GM12878	blood:	n/a	n/a
15	POLR2A	chr16:71495664-71496413	HCT-116	colon:	n/a	n/a
16	GABPA	chr16:71495203-71496757	MCF-7	breast:	n/a	n/a
17	TEAD4	chr16:71495642-71496376	K562	blood:	n/a	n/a
18	SP2	chr16:71495574-71496589	HepG2	liver:	n/a	n/a
19	REST	chr16:71495318-71496886	H1-neurons	neurons:	n/a	chr16:71496026-71496036
20	MAX	chr16:71495602-71496441	H1-hESC	embryonic stem cell:	n/a	chr16:71496345-71496354
21	MYC	chr16:71495727-71496408	MCF-7	breast:	n/a	chr16:71496345-71496354
22	ZNF143	chr16:71495736-71496426	H1-hESC	embryonic stem cell:	n/a	chr16:71495974-71495992
23	POLR2A	chr16:71495429-71496363	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr16:71495543-71496454	GM15510	blood:	n/a	n/a
25	HCFC1	chr16:71495326-71496822	Hela-S3	cervix:	n/a	n/a
26	REST	chr16:71495784-71496403	U87	brain:	n/a	chr16:71496026-71496036
27	MYC	chr16:71495774-71496375	HUVEC	blood vessel:	n/a	chr16:71496345-71496354
28	BHLHE40	chr16:71495638-71496432	K562	blood:	n/a	n/a
29	POLR2A	chr16:71495416-71496487	GM12892	blood:	n/a	n/a
30	YY1	chr16:71495791-71496416	A549	lung:	n/a	chr16:71495962-71495971 chr16:71495954-71495968
31	POLR2A	chr16:71495527-71496480	GM18505	blood:	n/a	n/a
32	RUNX3	chr16:71495673-71496488	GM12878	blood:	n/a	n/a
33	SIN3AK20	chr16:71495748-71496432	H1-hESC	embryonic stem cell:	n/a	n/a
34	MAX	chr16:71495431-71496627	HCT-116	colon:	n/a	chr16:71496345-71496354
35	ELF1	chr16:71495784-71496347	K562	blood:	n/a	n/a
36	CHD2	chr16:71495490-71496355	Hela-S3	cervix:	n/a	n/a
37	ELF1	chr16:71495659-71496470	MCF-7	breast:	n/a	n/a
38	REST	chr16:71495755-71496356	K562	blood:	n/a	chr16:71496026-71496036
39	POLR2A	chr16:71495470-71496433	K562	blood:	n/a	n/a
40	TAF1	chr16:71495575-71496442	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr16:71495394-71496516	HL-60	blood:	n/a	n/a
42	MBD4	chr16:71495569-71496446	HepG2	liver:	n/a	n/a
43	YY1	chr16:71495770-71496277	K562	blood:	n/a	chr16:71495962-71495971 chr16:71495954-71495968
44	POLR2A	chr16:71495449-71496398	GM12878	blood:	n/a	n/a
45	POLR2A	chr16:71495445-71496473	GM12892	blood:	n/a	n/a
46	POLR2A	chr16:71495388-71496365	K562	blood:	n/a	n/a
47	MXI1	chr16:71495229-71497450	SK-N-SH	brain:	n/a	chr16:71496344-71496353
48	CREB1	chr16:71495716-71496541	GM12878	blood:	n/a	n/a
49	E2F6	chr16:71495616-71496455	A549	lung:	n/a	n/a
50	SP2	chr16:71495651-71496513	HepG2	liver:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:71485371..71491957-chr16:71492064..71497509,13	K562	blood:
2	chr16:71494034..71497645-chr16:71516569..71520102,12	K562	blood:
3	chr16:71463484..71466764-chr16:71493078..71496827,4	MCF-7	breast:
4	chr16:71495701..71496536-chr9:95055685..95056447,2	HCT-116	colon:
5	chr11:120106275..120108882-chr16:71494675..71496479,2	MCF-7	breast:
6	chr16:71490751..71498047-chr16:71514421..71521729,20	MCF-7	breast:
7	chr16:71492243..71500079-chr16:71512817..71521299,31	MCF-7	breast:
8	chr16:29973280..29973871-chr16:71495666..71496435,2	Hela-S3	cervix:
9	chr16:71487978..71492259-chr16:71492827..71496747,5	K562	blood:
10	chr16:71492651..71498511-chr16:71515020..71523604,17	K562	blood:
11	chr16:71477364..71480165-chr16:71494025..71496473,2	K562	blood:
12	chr16:71482210..71487712-chr16:71492894..71496267,8	K562	blood:
13	chr16:71494529..71496069-chr16:71521336..71523844,2	MCF-7	breast:
14	chr16:71495690..71496577-chr16:71518159..71519385,6	MCF-7	breast:
15	chr16:71495757..71496586-chr19:12901757..12902361,2	Hela-S3	cervix:
16	chr16:71495699..71496606-chr16:71517751..71518756,7	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF19-2	chr16:71495562-71495907	NONHSAT143479

No data

Variant related genes	Relation type
ENSG00000247324	TF binding region
ENSG00000260734	Chromatin interaction
ENSG00000261611	Chromatin interaction
ENSG00000137709	Chromatin interaction
ENSG00000262008	Chromatin interaction
ENSG00000196305	Chromatin interaction
ENSG00000171223	Chromatin interaction
ENSG00000149932	Chromatin interaction
ENSG00000157429	Chromatin interaction
ENSG00000167377	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10468265	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11866859	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12325234	0.89[CEU][hapmap]
rs12444714	0.89[CEU][hapmap]
rs12918320	0.89[CEU][hapmap]
rs12919092	0.89[CEU][hapmap]
rs13336809	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16972266	1.00[ASN][1000 genomes]
rs16972805	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16972808	1.00[CEU][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16973000	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16973112	1.00[CEU][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16973190	1.00[CEU][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16973286	0.91[EUR][1000 genomes]
rs1804984	0.97[EUR][1000 genomes]
rs2052873	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3886947	1.00[CEU][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4258624	1.00[JPT][hapmap]
rs56222754	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57821244	0.90[EUR][1000 genomes]
rs59364668	0.88[EUR][1000 genomes]
rs61171207	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6499520	0.89[CEU][hapmap]
rs6499521	0.84[EUR][1000 genomes]
rs7188021	1.00[ASN][1000 genomes]
rs7197127	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs72791971	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72791974	0.98[EUR][1000 genomes]
rs72795864	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72795867	0.87[EUR][1000 genomes]
rs72795869	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72795881	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72797728	0.91[EUR][1000 genomes]
rs8044168	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs8049040	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs8050135	1.00[ASN][1000 genomes]
rs8056735	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9940485	1.00[ASN][1000 genomes]
rs9989376	0.91[EUR][1000 genomes]
rs9989377	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949461	chr16:71196153-71579711	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs8051439	MARVELD3	cis	Skin Sun Exposed Lower leg	GTEx
rs8051439	PHLPP2	cis	Muscle Skeletal	GTEx
rs8051439	RP11-510M2.10	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71493400-71496600	Active TSS	GM12878-XiMat	blood
2	chr16:71493800-71495800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
3	chr16:71493800-71495800	Flanking Active TSS	Osteobl	bone
4	chr16:71494200-71495800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr16:71494200-71496600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr16:71494200-71496800	Active TSS	NHLF	lung
7	chr16:71494200-71497000	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr16:71494200-71497000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr16:71494400-71495800	Flanking Active TSS	Dnd41	blood
10	chr16:71494600-71496800	Active TSS	A549	lung
11	chr16:71494800-71495800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr16:71494800-71495800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr16:71494800-71496600	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr16:71494800-71496600	Active TSS	K562	blood
15	chr16:71494800-71496800	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr16:71494800-71496800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr16:71494800-71496800	Active TSS	Psoas Muscle	Psoas
18	chr16:71494800-71496800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr16:71494800-71497000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr16:71494800-71497000	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr16:71495000-71495800	Flanking Active TSS	Fetal Brain Female	brain
22	chr16:71495000-71495800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
23	chr16:71495000-71495800	Active TSS	Right Atrium	heart
24	chr16:71495000-71496000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr16:71495000-71496000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr16:71495000-71496200	Active TSS	HMEC	breast
27	chr16:71495000-71496400	Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr16:71495000-71496800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr16:71495000-71496800	Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr16:71495000-71497000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr16:71495200-71495800	Flanking Active TSS	Primary T cells from cord blood	blood
32	chr16:71495200-71495800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr16:71495200-71495800	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr16:71495200-71495800	Flanking Active TSS	Liver	Liver
35	chr16:71495200-71495800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr16:71495200-71495800	Flanking Active TSS	Brain Substantia Nigra	brain
37	chr16:71495200-71495800	Flanking Active TSS	Duodenum Mucosa	Duodenum
38	chr16:71495200-71495800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
39	chr16:71495200-71495800	Flanking Active TSS	Fetal Brain Male	brain
40	chr16:71495200-71495800	Flanking Active TSS	Ovary	ovary
41	chr16:71495200-71495800	Flanking Active TSS	Right Ventricle	heart
42	chr16:71495200-71496000	Flanking Active TSS	Primary hematopoietic stem cells	blood
43	chr16:71495200-71496000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
44	chr16:71495200-71496000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr16:71495200-71496000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
46	chr16:71495200-71496400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
47	chr16:71495200-71496400	Active TSS	Rectal Mucosa Donor 31	rectum
48	chr16:71495200-71496400	Active TSS	Thymus	Thymus
49	chr16:71495200-71496600	Active TSS	Fetal Kidney	kidney
50	chr16:71495200-71496600	Active TSS	Fetal Stomach	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links