Variant report

Variant	rs3819783
Chromosome Location	chr1:71442626-71442627
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:71440403..71443013-chr1:71443324..71446288,2	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11209730	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11576593	0.83[CHB][hapmap];0.82[TSI][hapmap]
rs11587601	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12060001	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12064496	1.00[ASN][1000 genomes]
rs12066813	0.80[ASN][1000 genomes]
rs12067214	0.95[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap];0.81[EUR][1000 genomes]
rs12097924	0.95[CEU][hapmap];0.89[CHB][hapmap];0.83[CHD][hapmap];0.85[JPT][hapmap];0.91[TSI][hapmap];0.81[EUR][1000 genomes]
rs12407552	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13374231	0.81[EUR][1000 genomes]
rs1569593	0.81[EUR][1000 genomes]
rs17090700	0.90[CEU][hapmap];0.94[CHB][hapmap];0.93[CHD][hapmap];0.90[JPT][hapmap];0.91[TSI][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17090710	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1883459	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2072946	0.95[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2072947	0.80[JPT][hapmap]
rs2300161	0.95[CEU][hapmap];0.94[CHB][hapmap];0.93[CHD][hapmap];0.90[JPT][hapmap];0.85[MEX][hapmap];0.91[TSI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2300164	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2300172	0.80[EUR][1000 genomes]
rs2421735	0.95[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs2744914	0.84[EUR][1000 genomes]
rs2817840	0.84[EUR][1000 genomes]
rs34342579	0.80[EUR][1000 genomes]
rs36075725	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3819790	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs499641	0.85[JPT][hapmap]
rs500647	0.85[JPT][hapmap]
rs5693	0.89[CHB][hapmap];0.81[CHD][hapmap];0.87[GIH][hapmap];0.90[JPT][hapmap];0.91[TSI][hapmap];0.84[EUR][1000 genomes]
rs5697	0.95[CEU][hapmap];0.94[CHB][hapmap];0.93[CHD][hapmap];0.90[JPT][hapmap];0.85[MEX][hapmap];0.91[TSI][hapmap];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs594454	0.80[JPT][hapmap]
rs625617	0.89[JPT][hapmap]
rs650194	0.85[JPT][hapmap]
rs661000	0.80[JPT][hapmap]
rs6670616	0.86[CEU][hapmap];0.89[CHB][hapmap]
rs681196	0.80[JPT][hapmap]
rs7516479	0.80[EUR][1000 genomes]
rs7541717	0.90[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap];0.81[EUR][1000 genomes]
rs926457	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9424957	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9424958	0.91[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9425049	0.80[ASN][1000 genomes]
rs9425052	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1845198	chr1:71274759-71514969	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv830148	chr1:71310366-71483932	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv461840	chr1:71364105-71468493	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv546471	chr1:71364105-71468493	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1002663	chr1:71372715-71465508	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv534987	chr1:71372715-71465508	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv871313	chr1:71391646-71489438	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1007153	chr1:71414296-71458961	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1002842	chr1:71415135-71458961	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	esv2762149	chr1:71415135-71458973	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv1003555	chr1:71415135-71471875	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv1006266	chr1:71417173-71458143	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv997350	chr1:71417173-71458961	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv1003919	chr1:71417926-71465647	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv534988	chr1:71417926-71465647	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv1008902	chr1:71417926-71488139	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	nsv534989	chr1:71417926-71488139	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	nsv1004195	chr1:71417927-71465648	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
19	nsv534990	chr1:71417927-71465648	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
20	nsv997503	chr1:71418126-71465508	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
21	nsv534991	chr1:71418126-71465508	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
22	nsv516212	chr1:71421564-71468493	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
23	nsv871222	chr1:71427842-71473791	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
24	nsv546472	chr1:71432984-71541003	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	555 gene(s)	inside rSNPs	diseases
25	nsv871141	chr1:71440217-71453552	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
26	nsv461851	chr1:71442626-71507541	Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
27	nsv546473	chr1:71442626-71507541	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:71430200-71444200	Weak transcription	Adipose Nuclei	Adipose
2	chr1:71441600-71444800	Enhancers	Fetal Brain Male	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links