Variant report

Variant	rs4849134
Chromosome Location	chr2:111615015-111615016
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:111613927..111616498-chr2:111625288..111627633,2	K562	blood:
2	chr2:111614729..111616277-chr2:111621749..111623783,2	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10169852	0.82[CEU][hapmap]
rs10179923	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10180020	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10180446	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12476878	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12711785	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13019266	0.94[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.93[MKK][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1533295	0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1533298	0.94[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];0.89[CHD][hapmap];0.81[JPT][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1533300	1.00[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1554006	0.94[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];0.94[JPT][hapmap];0.95[LWK][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1969232	0.92[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2341873	0.86[CEU][hapmap]
rs2612698	0.86[CEU][hapmap];0.81[JPT][hapmap];0.81[EUR][1000 genomes]
rs2612700	0.90[CEU][hapmap];0.81[JPT][hapmap];0.80[EUR][1000 genomes]
rs4848317	0.86[CEU][hapmap];0.81[JPT][hapmap]
rs4849135	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4849155	0.86[CEU][hapmap];0.81[JPT][hapmap]
rs66782223	0.81[ASN][1000 genomes]
rs7576541	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7588925	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9917154	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874838	chr2:111376870-112046226	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv874839	chr2:111400934-111868010	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1008758	chr2:111415136-111626467	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv535890	chr2:111415136-111626467	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv997829	chr2:111486961-111780537	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv834330	chr2:111593290-111789447	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv874840	chr2:111605245-111695479	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1004949	chr2:111607532-111780719	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv1002568	chr2:111607532-111781442	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv1005665	chr2:111610107-111762039	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv535892	chr2:111610107-111762039	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111604800-111615800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr2:111608000-111618800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr2:111610600-111623600	Weak transcription	Spleen	Spleen
4	chr2:111610800-111616400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr2:111611000-111615600	Enhancers	Dnd41	blood
6	chr2:111611000-111615800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr2:111611600-111615800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:111611800-111615600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr2:111611800-111615600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr2:111611800-111615600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr2:111612000-111616000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:111612200-111615800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr2:111612400-111615600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr2:111612400-111615600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr2:111612400-111615800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr2:111612400-111615800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr2:111612400-111615800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr2:111612400-111615800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr2:111612400-111615800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr2:111612400-111615800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:111612400-111615800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr2:111612600-111615200	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr2:111612600-111615600	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr2:111612600-111615600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr2:111612600-111615800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr2:111612600-111615800	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr2:111612600-111616200	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr2:111612800-111615400	Weak transcription	Thymus	Thymus
29	chr2:111612800-111615600	Weak transcription	Primary T cells from cord blood	blood
30	chr2:111613000-111615600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr2:111613000-111615800	Weak transcription	Primary B cells from peripheral blood	blood
32	chr2:111613400-111616400	Weak transcription	Primary B cells from cord blood	blood
33	chr2:111614200-111615800	Enhancers	Fetal Thymus	thymus
34	chr2:111615000-111615400	Weak transcription	Primary T helper naive cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links