Variant report

Variant	rs73193631
Chromosome Location	chr12:105411760-105411761
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10082824	1.00[ASN][1000 genomes]
rs10083185	1.00[ASN][1000 genomes]
rs11112291	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112292	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112293	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112294	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112295	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112315	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112316	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112318	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112333	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11112381	1.00[ASN][1000 genomes]
rs11112389	1.00[ASN][1000 genomes]
rs11495192	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11829598	1.00[ASN][1000 genomes]
rs12307372	1.00[ASN][1000 genomes]
rs12369202	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12369490	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12372369	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12372454	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12425803	1.00[ASN][1000 genomes]
rs17036595	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17036608	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1801070	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35149056	1.00[ASN][1000 genomes]
rs3910856	1.00[ASN][1000 genomes]
rs55679730	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55916348	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56284118	1.00[ASN][1000 genomes]
rs56862143	1.00[ASN][1000 genomes]
rs60835294	1.00[ASN][1000 genomes]
rs6539184	1.00[ASN][1000 genomes]
rs7136453	1.00[ASN][1000 genomes]
rs7138574	1.00[ASN][1000 genomes]
rs7300730	1.00[ASN][1000 genomes]
rs7310860	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7313309	1.00[ASN][1000 genomes]
rs7315964	1.00[ASN][1000 genomes]
rs73179946	1.00[ASN][1000 genomes]
rs73179970	1.00[ASN][1000 genomes]
rs73179974	1.00[ASN][1000 genomes]
rs73179990	1.00[ASN][1000 genomes]
rs73179996	1.00[ASN][1000 genomes]
rs73179998	1.00[ASN][1000 genomes]
rs73180001	1.00[ASN][1000 genomes]
rs73191788	1.00[ASN][1000 genomes]
rs73193611	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73193619	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73193626	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73193630	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7956643	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7964184	1.00[ASN][1000 genomes]
rs7966109	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7975787	1.00[ASN][1000 genomes]
rs7978034	1.00[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	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv899498	chr12:105173598-105461620	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
3	nsv832505	chr12:105315352-105497765	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105387600-105412200	Weak transcription	HepG2	liver
2	chr12:105389000-105430600	Weak transcription	Hela-S3	cervix
3	chr12:105393200-105418200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr12:105393400-105421200	Weak transcription	NHLF	lung
5	chr12:105393600-105412000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr12:105393800-105412000	Weak transcription	Lung	lung
7	chr12:105393800-105412200	Weak transcription	Placenta	Placenta
8	chr12:105393800-105412800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:105393800-105414400	Weak transcription	Esophagus	oesophagus
10	chr12:105393800-105414600	Weak transcription	Colonic Mucosa	Colon
11	chr12:105393800-105417400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr12:105394000-105414000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr12:105394000-105418000	Weak transcription	Colon Smooth Muscle	Colon
14	chr12:105394200-105422800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr12:105394200-105435000	Weak transcription	Brain Cingulate Gyrus	brain
16	chr12:105394400-105412000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr12:105394800-105434200	Weak transcription	Brain Substantia Nigra	brain
18	chr12:105395200-105414400	Weak transcription	Fetal Kidney	kidney
19	chr12:105397400-105419400	Weak transcription	Fetal Brain Male	brain
20	chr12:105397400-105443200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr12:105397800-105412400	Weak transcription	Psoas Muscle	Psoas
22	chr12:105398000-105412000	Weak transcription	NHEK	skin
23	chr12:105399000-105414200	Weak transcription	Small Intestine	intestine
24	chr12:105399200-105414200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr12:105399400-105412400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:105400000-105411800	Weak transcription	Aorta	Aorta
27	chr12:105400600-105411800	Weak transcription	HMEC	breast
28	chr12:105401400-105415200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr12:105401800-105412000	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr12:105405800-105412400	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr12:105406200-105413200	Strong transcription	Duodenum Mucosa	Duodenum
32	chr12:105406400-105413000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr12:105407000-105412800	Strong transcription	Adipose Nuclei	Adipose
34	chr12:105407200-105412200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr12:105407200-105413800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr12:105407200-105419800	Weak transcription	Fetal Brain Female	brain
37	chr12:105407400-105418400	Weak transcription	Right Ventricle	heart
38	chr12:105407600-105412400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr12:105407600-105413600	Weak transcription	Fetal Intestine Large	intestine
40	chr12:105407800-105411800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr12:105407800-105412000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr12:105407800-105412000	Weak transcription	Thymus	Thymus
43	chr12:105407800-105412000	Weak transcription	Spleen	Spleen
44	chr12:105407800-105412200	Weak transcription	Fetal Muscle Leg	muscle
45	chr12:105407800-105412200	Weak transcription	Gastric	stomach
46	chr12:105407800-105412200	Weak transcription	Pancreas	Pancrea
47	chr12:105407800-105412400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr12:105407800-105413800	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr12:105407800-105414200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr12:105407800-105414400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links