Variant report

Variant	rs73387230
Chromosome Location	chr12:105411258-105411259
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12579120	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12579129	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12579441	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12579790	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12580237	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12580271	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12580282	1.00[EUR][1000 genomes]
rs12580384	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12582090	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12582132	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17036606	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35938519	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61060789	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7135496	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73383478	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73383483	1.00[EUR][1000 genomes]
rs73383487	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73383495	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73383498	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[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:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105381800-105411400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr12:105387600-105412200	Weak transcription	HepG2	liver
3	chr12:105389000-105430600	Weak transcription	Hela-S3	cervix
4	chr12:105393200-105411400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr12:105393200-105418200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr12:105393400-105421200	Weak transcription	NHLF	lung
7	chr12:105393600-105412000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr12:105393800-105412000	Weak transcription	Lung	lung
9	chr12:105393800-105412200	Weak transcription	Placenta	Placenta
10	chr12:105393800-105412800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:105393800-105414400	Weak transcription	Esophagus	oesophagus
12	chr12:105393800-105414600	Weak transcription	Colonic Mucosa	Colon
13	chr12:105393800-105417400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr12:105394000-105414000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr12:105394000-105418000	Weak transcription	Colon Smooth Muscle	Colon
16	chr12:105394200-105422800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr12:105394200-105435000	Weak transcription	Brain Cingulate Gyrus	brain
18	chr12:105394400-105412000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr12:105394800-105434200	Weak transcription	Brain Substantia Nigra	brain
20	chr12:105395200-105414400	Weak transcription	Fetal Kidney	kidney
21	chr12:105397400-105419400	Weak transcription	Fetal Brain Male	brain
22	chr12:105397400-105443200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr12:105397800-105412400	Weak transcription	Psoas Muscle	Psoas
24	chr12:105398000-105412000	Weak transcription	NHEK	skin
25	chr12:105399000-105414200	Weak transcription	Small Intestine	intestine
26	chr12:105399200-105414200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr12:105399400-105412400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:105400000-105411800	Weak transcription	Aorta	Aorta
29	chr12:105400600-105411800	Weak transcription	HMEC	breast
30	chr12:105401400-105415200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr12:105401800-105412000	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr12:105405800-105412400	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr12:105406200-105413200	Strong transcription	Duodenum Mucosa	Duodenum
34	chr12:105406400-105413000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr12:105407000-105412800	Strong transcription	Adipose Nuclei	Adipose
36	chr12:105407200-105411400	Weak transcription	Primary B cells from cord blood	blood
37	chr12:105407200-105412200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr12:105407200-105413800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr12:105407200-105419800	Weak transcription	Fetal Brain Female	brain
40	chr12:105407400-105418400	Weak transcription	Right Ventricle	heart
41	chr12:105407600-105412400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr12:105407600-105413600	Weak transcription	Fetal Intestine Large	intestine
43	chr12:105407800-105411600	Weak transcription	Brain Germinal Matrix	brain
44	chr12:105407800-105411600	Weak transcription	Fetal Stomach	stomach
45	chr12:105407800-105411800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr12:105407800-105412000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr12:105407800-105412000	Weak transcription	Thymus	Thymus
48	chr12:105407800-105412000	Weak transcription	Spleen	Spleen
49	chr12:105407800-105412200	Weak transcription	Fetal Muscle Leg	muscle
50	chr12:105407800-105412200	Weak transcription	Gastric	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links