Variant report

Variant	rs8051212
Chromosome Location	chr16:71495524-71495525
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:70)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:70 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:71495116-71496480	U87	brain:	n/a	n/a
2	POLR2A	chr16:71495376-71496488	GM12878	blood:	n/a	n/a
3	GABPA	chr16:71495513-71496384	Hela-S3	cervix:	n/a	n/a
4	GABPA	chr16:71495203-71496757	MCF-7	breast:	n/a	n/a
5	POLR2A	chr16:71495437-71495626	GM12891	blood:	n/a	n/a
6	REST	chr16:71495318-71496886	H1-neurons	neurons:	n/a	chr16:71496026-71496036
7	POLR2A	chr16:71495429-71496363	H1-hESC	embryonic stem cell:	n/a	n/a
8	HCFC1	chr16:71495326-71496822	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr16:71495416-71496487	GM12892	blood:	n/a	n/a
10	MAX	chr16:71495431-71496627	HCT-116	colon:	n/a	chr16:71496345-71496354
11	CHD2	chr16:71495490-71496355	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr16:71495470-71496433	K562	blood:	n/a	n/a
13	POLR2A	chr16:71495394-71496516	HL-60	blood:	n/a	n/a
14	POLR2A	chr16:71495449-71496398	GM12878	blood:	n/a	n/a
15	POLR2A	chr16:71495445-71496473	GM12892	blood:	n/a	n/a
16	POLR2A	chr16:71495388-71496365	K562	blood:	n/a	n/a
17	MXI1	chr16:71495229-71497450	SK-N-SH	brain:	n/a	chr16:71496344-71496353
18	POLR2A	chr16:71495452-71496374	K562	blood:	n/a	n/a
19	TCF12	chr16:71495499-71496621	A549	lung:	n/a	n/a
20	POLR2A	chr16:71495521-71496470	GM19193	blood:	n/a	n/a
21	MXI1	chr16:71495316-71496693	IMR90	lung:	n/a	chr16:71496344-71496353
22	MAX	chr16:71495461-71496693	A549	lung:	n/a	chr16:71496345-71496354
23	POLR2A	chr16:71495501-71496301	Hela-S3	cervix:	n/a	n/a
24	MAX	chr16:71495518-71496417	Hela-S3	cervix:	n/a	chr16:71496345-71496354
25	POLR2A	chr16:71495465-71496325	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr16:71495461-71496428	U87	brain:	n/a	n/a
27	GABPA	chr16:71495441-71496666	A549	lung:	n/a	n/a
28	MTA3	chr16:71495425-71496762	GM12878	blood:	n/a	n/a
29	MAZ	chr16:71495212-71496557	IMR90	lung:	n/a	chr16:71496345-71496354
30	ZNF263	chr16:71495506-71496356	HEK293-T-REx	kidney:	n/a	n/a
31	POLR2A	chr16:71495315-71496468	GM12878	blood:	n/a	n/a
32	POLR2A	chr16:71495518-71495537	GM12878	blood:	n/a	n/a
33	MAX	chr16:71495459-71496593	HepG2	liver:	n/a	chr16:71496345-71496354
34	POLR2A	chr16:71495263-71496698	HepG2	liver:	n/a	n/a
35	ELF1	chr16:71495516-71496416	GM12878	blood:	n/a	n/a
36	POLR2A	chr16:71493790-71496486	U87	brain:	n/a	n/a
37	MAX	chr16:71495523-71496588	A549	lung:	n/a	chr16:71496345-71496354
38	MYC	chr16:71495523-71496432	NB4	blood:	n/a	chr16:71496345-71496354
39	POLR2A	chr16:71495519-71496422	Hela-S3	cervix:	n/a	n/a
40	REST	chr16:71495379-71496680	HL-60	blood:	n/a	chr16:71496026-71496036
41	GABPA	chr16:71495448-71496556	MCF-7	breast:	n/a	n/a
42	POLR2A	chr16:71495221-71496579	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr16:71494156-71496500	IMR90	lung:	n/a	n/a
44	ZMIZ1	chr16:71495523-71495537	K562	blood:	n/a	n/a
45	POLR2A	chr16:71495433-71496491	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr16:71495486-71496545	H1-neurons	neurons:	n/a	n/a
47	CREB1	chr16:71495499-71496489	HepG2	liver:	n/a	n/a
48	POLR2A	chr16:71495408-71496496	GM12891	blood:	n/a	n/a
49	POLR2A	chr16:71495447-71496347	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr16:71495445-71496533	H1-neurons	neurons:	n/a	n/a

No data

(count:11 , 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	chr11:120106275..120108882-chr16:71494675..71496479,2	MCF-7	breast:
5	chr16:71490751..71498047-chr16:71514421..71521729,20	MCF-7	breast:
6	chr16:71492243..71500079-chr16:71512817..71521299,31	MCF-7	breast:
7	chr16:71487978..71492259-chr16:71492827..71496747,5	K562	blood:
8	chr16:71492651..71498511-chr16:71515020..71523604,17	K562	blood:
9	chr16:71477364..71480165-chr16:71494025..71496473,2	K562	blood:
10	chr16:71482210..71487712-chr16:71492894..71496267,8	K562	blood:
11	chr16:71494529..71496069-chr16:71521336..71523844,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000247324	TF binding region
ZNF23	TF binding region
ENSG00000137709	Chromatin interaction
ENSG00000157429	Chromatin interaction
ENSG00000260734	Chromatin interaction
ENSG00000262008	Chromatin interaction
ENSG00000167377	Chromatin interaction
ENSG00000261611	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10500558	0.94[ASN][1000 genomes]
rs11640165	0.94[ASN][1000 genomes]
rs11641492	0.94[ASN][1000 genomes]
rs11643101	0.81[CHB][hapmap]
rs11643216	0.94[ASN][1000 genomes]
rs11644434	0.88[CHB][hapmap]
rs11647749	0.93[ASN][1000 genomes]
rs12446461	1.00[CEU][hapmap];0.94[CHB][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13331346	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1609868	0.94[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs1609869	0.94[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs16972708	0.82[YRI][hapmap]
rs2004672	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2070832	0.91[CEU][hapmap];0.94[CHB][hapmap];0.89[CHD][hapmap];0.94[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2288486	0.88[CHB][hapmap];0.92[CHD][hapmap];0.84[GIH][hapmap];0.89[JPT][hapmap];0.83[MEX][hapmap];0.94[ASN][1000 genomes]
rs2288487	0.94[CHB][hapmap];0.92[CHD][hapmap];0.84[JPT][hapmap];0.90[ASN][1000 genomes]
rs2288488	0.94[ASN][1000 genomes]
rs2288489	0.89[LWK][hapmap];0.91[YRI][hapmap]
rs2303788	0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2432524	0.81[CHB][hapmap]
rs28372238	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs310334	0.87[ASW][hapmap];1.00[CEU][hapmap];0.83[CHB][hapmap];0.94[CHD][hapmap];0.89[GIH][hapmap];0.84[JPT][hapmap];0.81[LWK][hapmap];0.88[MEX][hapmap];0.87[TSI][hapmap];0.83[YRI][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35373081	0.91[ASN][1000 genomes]
rs35916432	0.89[ASN][1000 genomes]
rs36063092	0.83[ASN][1000 genomes]
rs3813743	0.87[ASW][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.89[JPT][hapmap];0.82[LWK][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3892120	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4149498	0.94[CHB][hapmap];0.94[CHD][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs4503795	0.98[ASN][1000 genomes]
rs4620964	0.91[CEU][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58134724	0.92[ASN][1000 genomes]
rs58452291	0.82[ASN][1000 genomes]
rs58719913	0.94[ASN][1000 genomes]
rs6499523	1.00[CEU][hapmap];0.93[CHB][hapmap];0.89[JPT][hapmap]
rs7184543	0.94[CHB][hapmap];0.92[CHD][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs7186241	0.93[ASN][1000 genomes]
rs7187165	0.94[CHB][hapmap];0.94[CHD][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs7187354	0.83[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.89[JPT][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7188342	0.94[CHB][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs7192986	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7199026	0.94[CHB][hapmap];0.92[CHD][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs7199373	0.92[ASN][1000 genomes]
rs7200335	0.90[ASN][1000 genomes]
rs7200431	0.94[CHB][hapmap];0.89[JPT][hapmap];0.92[ASN][1000 genomes]
rs7202662	0.94[CHB][hapmap];0.92[CHD][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs7202953	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs730470	0.94[CHB][hapmap];0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs732318	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.80[JPT][hapmap];0.89[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs74026831	0.93[ASN][1000 genomes]
rs74027246	0.94[ASN][1000 genomes]
rs8044068	0.93[ASN][1000 genomes]
rs8044561	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.94[GIH][hapmap];0.89[JPT][hapmap];0.88[MEX][hapmap];0.87[TSI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8053662	0.93[ASN][1000 genomes]
rs8058294	0.93[CHB][hapmap];0.88[JPT][hapmap];0.92[ASN][1000 genomes]
rs8058776	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8061078	1.00[CEU][hapmap];0.88[CHB][hapmap];0.91[YRI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9302623	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9926110	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.89[GIH][hapmap];0.84[JPT][hapmap];0.88[MEX][hapmap];0.84[TSI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9928243	0.94[CHB][hapmap];0.92[CHD][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs9933680	0.94[CHB][hapmap];0.94[CHD][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs9935426	0.94[CHB][hapmap];0.94[CHD][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs9936249	0.87[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];0.89[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9940771	0.83[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[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

No data

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	chr16:71493800-71495600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr16:71493800-71495600	Flanking Active TSS	NH-A	brain
4	chr16:71493800-71495800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
5	chr16:71493800-71495800	Flanking Active TSS	Osteobl	bone
6	chr16:71494200-71495800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr16:71494200-71496600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr16:71494200-71496800	Active TSS	NHLF	lung
9	chr16:71494200-71497000	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr16:71494200-71497000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr16:71494400-71495600	Active TSS	Stomach Smooth Muscle	stomach
12	chr16:71494400-71495800	Flanking Active TSS	Dnd41	blood
13	chr16:71494600-71496800	Active TSS	A549	lung
14	chr16:71494800-71495600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr16:71494800-71495800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr16:71494800-71495800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr16:71494800-71496600	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr16:71494800-71496600	Active TSS	K562	blood
19	chr16:71494800-71496800	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr16:71494800-71496800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr16:71494800-71496800	Active TSS	Psoas Muscle	Psoas
22	chr16:71494800-71496800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr16:71494800-71497000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr16:71494800-71497000	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr16:71495000-71495600	Flanking Active TSS	Brain Germinal Matrix	brain
26	chr16:71495000-71495800	Flanking Active TSS	Fetal Brain Female	brain
27	chr16:71495000-71495800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
28	chr16:71495000-71495800	Active TSS	Right Atrium	heart
29	chr16:71495000-71496000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr16:71495000-71496000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr16:71495000-71496200	Active TSS	HMEC	breast
32	chr16:71495000-71496400	Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr16:71495000-71496800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr16:71495000-71496800	Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr16:71495000-71497000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr16:71495200-71495600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr16:71495200-71495600	Flanking Active TSS	Brain Anterior Caudate	brain
38	chr16:71495200-71495600	Flanking Active TSS	Brain Cingulate Gyrus	brain
39	chr16:71495200-71495600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
40	chr16:71495200-71495600	Flanking Active TSS	Fetal Heart	heart
41	chr16:71495200-71495600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr16:71495200-71495600	Flanking Active TSS	Hela-S3	cervix
43	chr16:71495200-71495800	Flanking Active TSS	Primary T cells from cord blood	blood
44	chr16:71495200-71495800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr16:71495200-71495800	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr16:71495200-71495800	Flanking Active TSS	Liver	Liver
47	chr16:71495200-71495800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr16:71495200-71495800	Flanking Active TSS	Brain Substantia Nigra	brain
49	chr16:71495200-71495800	Flanking Active TSS	Duodenum Mucosa	Duodenum
50	chr16:71495200-71495800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links