Variant report

Variant	rs833822
Chromosome Location	chr12:49349005-49349006
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:49210476..49213723-chr12:49348025..49351364,4	MCF-7	breast:
2	chr12:49326822..49334011-chr12:49345841..49353556,12	MCF-7	breast:
3	chr12:49319039..49321186-chr12:49348048..49350961,2	MCF-7	breast:
4	chr12:49348867..49353149-chr12:49362475..49369316,15	MCF-7	breast:
5	chr12:49258480..49261342-chr12:49348804..49351192,2	MCF-7	breast:
6	chr12:49346261..49349011-chr12:49376285..49379278,2	K562	blood:
7	chr12:49348804..49352502-chr12:49411258..49414497,4	MCF-7	breast:
8	chr12:49347725..49349691-chr12:49358363..49360847,2	MCF-7	breast:
9	chr12:49347357..49351835-chr12:49360389..49366684,9	MCF-7	breast:
10	chr12:49346973..49349302-chr12:49353615..49356127,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000134285	Chromatin interaction
ENSG00000167535	Chromatin interaction
ENSG00000169884	Chromatin interaction
ENSG00000238395	Chromatin interaction
ENSG00000181929	Chromatin interaction
ENSG00000172602	Chromatin interaction
ENSG00000255863	Chromatin interaction

Extended variants
information (count: 123 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:120)

rs_ID	r²[population]
rs1051886	0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap];0.99[ASN][1000 genomes]
rs1054376	0.95[CHB][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]
rs10747556	0.91[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs10747557	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs10747558	1.00[CHB][hapmap];0.89[JPT][hapmap];0.99[ASN][1000 genomes]
rs10783289	0.95[CHB][hapmap];0.98[CHD][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs10783290	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10783292	0.86[ASN][1000 genomes]
rs10783293	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];0.95[JPT][hapmap];0.92[MEX][hapmap];0.93[TSI][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10783294	0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap];0.90[ASN][1000 genomes]
rs10783295	0.90[ASN][1000 genomes]
rs10783297	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10875883	0.89[CHD][hapmap]
rs10875886	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];0.95[JPT][hapmap];0.92[MEX][hapmap];0.93[TSI][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10875888	0.80[ASN][1000 genomes]
rs10875893	0.95[CHB][hapmap];0.98[CHD][hapmap];0.90[JPT][hapmap];0.84[MEX][hapmap];0.88[ASN][1000 genomes]
rs10875894	0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs10875895	0.90[ASN][1000 genomes]
rs10875896	0.87[ASN][1000 genomes]
rs10875897	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.99[ASN][1000 genomes]
rs10875898	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs10875899	0.84[ASN][1000 genomes]
rs10875900	0.99[ASN][1000 genomes]
rs10875901	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10875902	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.99[ASN][1000 genomes]
rs1111662	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11168779	0.89[ASN][1000 genomes]
rs11168783	0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap];0.90[ASN][1000 genomes]
rs11168784	0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs11168785	0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap];0.90[ASN][1000 genomes]
rs11168790	0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap];0.90[ASN][1000 genomes]
rs11168792	0.92[ASN][1000 genomes]
rs11168794	0.92[ASN][1000 genomes]
rs11168795	0.98[ASN][1000 genomes]
rs11168797	0.98[ASN][1000 genomes]
rs11168798	0.93[ASN][1000 genomes]
rs11168800	0.93[ASN][1000 genomes]
rs11168801	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11168803	0.99[ASN][1000 genomes]
rs11168811	0.88[ASN][1000 genomes]
rs11168812	0.99[ASN][1000 genomes]
rs11608916	0.90[ASN][1000 genomes]
rs11610459	0.90[ASN][1000 genomes]
rs11610497	0.90[ASN][1000 genomes]
rs11614474	0.90[ASN][1000 genomes]
rs12227240	0.87[ASN][1000 genomes]
rs12228521	0.90[ASN][1000 genomes]
rs12229275	0.90[ASN][1000 genomes]
rs12423542	0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap];0.92[ASN][1000 genomes]
rs12579249	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1318692	0.89[ASN][1000 genomes]
rs1690177	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1690182	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1818996	0.99[ASN][1000 genomes]
rs1830192	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2030900	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2070940	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2073480	0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap];0.98[ASN][1000 genomes]
rs2131713	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2272311	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.98[ASN][1000 genomes]
rs2272312	0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs2293449	0.95[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs2368701	0.90[ASN][1000 genomes]
rs2453063	0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2463175	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2641450	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2694839	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2694840	0.97[ASN][1000 genomes]
rs3741627	0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap];0.99[ASN][1000 genomes]
rs3759146	0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap];0.92[ASN][1000 genomes]
rs3782353	0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap];0.99[ASN][1000 genomes]
rs3809147	0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap];0.89[ASN][1000 genomes]
rs3825182	0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap];0.92[ASN][1000 genomes]
rs3825184	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4018510	0.99[ASN][1000 genomes]
rs4237854	0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs4433614	0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs4526804	1.00[ASN][1000 genomes]
rs4760600	0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap];0.90[ASN][1000 genomes]
rs4760661	0.90[ASN][1000 genomes]
rs4760662	0.82[CHD][hapmap];0.85[ASN][1000 genomes]
rs4760663	0.86[CHD][hapmap];0.88[ASN][1000 genomes]
rs4760664	1.00[ASN][1000 genomes]
rs4760665	0.90[ASN][1000 genomes]
rs4760666	0.87[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap];0.97[ASN][1000 genomes]
rs4760667	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4760668	0.99[ASN][1000 genomes]
rs58023472	0.90[ASN][1000 genomes]
rs59087236	1.00[ASN][1000 genomes]
rs61941142	0.89[ASN][1000 genomes]
rs61942166	0.96[ASN][1000 genomes]
rs61942167	0.98[ASN][1000 genomes]
rs61942169	0.99[ASN][1000 genomes]
rs61942207	1.00[ASN][1000 genomes]
rs61942209	0.89[ASN][1000 genomes]
rs6580696	0.88[ASW][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.92[MEX][hapmap];0.83[TSI][hapmap];0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7297958	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.90[JPT][hapmap];0.92[MEX][hapmap];0.93[TSI][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7298330	0.90[ASN][1000 genomes]
rs7304942	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7313988	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7489036	0.85[ASN][1000 genomes]
rs7963018	0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7963160	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7976473	0.93[ASN][1000 genomes]
rs833820	1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.98[ASN][1000 genomes]
rs833821	0.98[ASN][1000 genomes]
rs833827	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs833828	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs833839	0.89[ASN][1000 genomes]
rs833840	0.82[CHB][hapmap];0.86[CHD][hapmap];0.89[ASN][1000 genomes]
rs833841	0.82[CHB][hapmap];0.84[CHD][hapmap];0.88[ASN][1000 genomes]
rs833842	0.88[ASN][1000 genomes]
rs833843	0.82[CHB][hapmap];0.86[CHD][hapmap];0.83[MEX][hapmap];0.85[ASN][1000 genomes]
rs961320	0.89[ASN][1000 genomes]
rs9645813	0.93[ASN][1000 genomes]
rs9783452	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[ASN][1000 genomes]
rs9783477	1.00[ASN][1000 genomes]
rs9788029	0.92[ASN][1000 genomes]
rs9795742	0.88[ASN][1000 genomes]
rs9796008	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832404	chr12:49258560-49458555	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs833822	RP11-302B13.1	cis	Whole Blood	GTEx
rs833822	AQP2	cis	parietal	SCAN
rs833822	WNT10B	cis	parietal	SCAN
rs833822	FKBP11	cis	cerebellum	SCAN
rs833822	FKBP11	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49319200-49349800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:49319800-49349400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:49329400-49349400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr12:49333800-49349400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr12:49334800-49349400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr12:49334800-49349800	Weak transcription	Psoas Muscle	Psoas
7	chr12:49335000-49349400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr12:49335000-49349800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:49335200-49349600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr12:49335400-49349400	Weak transcription	Liver	Liver
11	chr12:49335400-49349800	Weak transcription	Spleen	Spleen
12	chr12:49337600-49349200	Weak transcription	Brain Substantia Nigra	brain
13	chr12:49340000-49349200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr12:49340600-49349400	Weak transcription	Brain Hippocampus Middle	brain
15	chr12:49340800-49349200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr12:49340800-49349800	Weak transcription	Right Ventricle	heart
17	chr12:49341400-49349400	Weak transcription	Colonic Mucosa	Colon
18	chr12:49344600-49349400	Strong transcription	HSMM	muscle
19	chr12:49345600-49349200	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr12:49345800-49349200	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr12:49346000-49349200	Strong transcription	Fetal Intestine Large	intestine
22	chr12:49346200-49349200	Strong transcription	H1 Cell Line	embryonic stem cell
23	chr12:49346200-49349200	Strong transcription	Osteobl	bone
24	chr12:49346200-49349400	Genic enhancers	K562	blood
25	chr12:49346800-49349400	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr12:49346800-49349600	Weak transcription	Stomach Smooth Muscle	stomach
27	chr12:49346800-49349800	Weak transcription	Right Atrium	heart
28	chr12:49347000-49349200	Weak transcription	Primary T cells from cord blood	blood
29	chr12:49347000-49349200	Weak transcription	Brain Cingulate Gyrus	brain
30	chr12:49347000-49349200	Weak transcription	Fetal Lung	lung
31	chr12:49347000-49349600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr12:49347000-49349800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr12:49347000-49349800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr12:49347000-49349800	Weak transcription	Esophagus	oesophagus
35	chr12:49347000-49349800	Weak transcription	Gastric	stomach
36	chr12:49347000-49349800	Weak transcription	Left Ventricle	heart
37	chr12:49347000-49349800	Weak transcription	Ovary	ovary
38	chr12:49347000-49349800	Weak transcription	Pancreas	Pancrea
39	chr12:49347000-49350000	Weak transcription	Aorta	Aorta
40	chr12:49347200-49349200	Weak transcription	Thymus	Thymus
41	chr12:49347200-49349400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr12:49347600-49349200	Weak transcription	NHLF	lung
43	chr12:49347600-49349400	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr12:49347600-49349400	Weak transcription	Fetal Muscle Leg	muscle
45	chr12:49347600-49349600	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr12:49347800-49349200	Genic enhancers	Dnd41	blood
47	chr12:49347800-49349600	Enhancers	Fetal Brain Male	brain
48	chr12:49347800-49349800	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr12:49347800-49349800	Enhancers	Primary B cells from cord blood	blood
50	chr12:49347800-49349800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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