Variant report

Variant	rs41322250
Chromosome Location	chr12:29735890-29735891
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11050323	1.00[TSI][hapmap]
rs159682	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs159683	1.00[CEU][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs159686	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs299452	1.00[TSI][hapmap]
rs299460	1.00[YRI][hapmap]
rs299481	1.00[YRI][hapmap]
rs299482	1.00[CEU][hapmap]
rs299483	1.00[AMR][1000 genomes]
rs299486	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58290969	0.90[AFR][1000 genomes]
rs7134177	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73263805	0.90[AFR][1000 genomes]
rs73263809	1.00[AMR][1000 genomes]
rs73263811	0.80[AFR][1000 genomes]
rs73263816	0.90[AFR][1000 genomes]
rs73263829	0.84[AFR][1000 genomes]
rs73263831	0.84[AFR][1000 genomes]
rs73263838	0.90[AFR][1000 genomes]
rs73263901	0.90[AFR][1000 genomes]
rs73266067	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73266079	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73266080	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053641	chr12:29268813-29854413	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv469190	chr12:29612425-29811471	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv557917	chr12:29612425-29811471	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv1053629	chr12:29680163-29826626	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv529328	chr12:29692414-30246209	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29709800-29756200	Weak transcription	HMEC	breast
2	chr12:29713200-29742600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:29716200-29764800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr12:29717600-29736400	Weak transcription	Psoas Muscle	Psoas
5	chr12:29720200-29743600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr12:29722600-29736400	Weak transcription	Fetal Stomach	stomach
7	chr12:29726000-29751400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:29729400-29744000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:29730400-29736200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr12:29731000-29742600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr12:29731800-29769600	Weak transcription	Hela-S3	cervix
12	chr12:29732000-29737200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr12:29732200-29737200	Enhancers	Colon Smooth Muscle	Colon
14	chr12:29733600-29736000	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr12:29733600-29737000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr12:29733800-29737200	Enhancers	Adipose Nuclei	Adipose
17	chr12:29734000-29736600	Enhancers	Brain Anterior Caudate	brain
18	chr12:29734200-29737200	Enhancers	Rectal Smooth Muscle	rectum
19	chr12:29734400-29736200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr12:29734600-29737000	Enhancers	Muscle Satellite Cultured Cells	--
21	chr12:29734600-29737000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr12:29734600-29737200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr12:29734800-29736000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
24	chr12:29734800-29736200	Enhancers	Brain Substantia Nigra	brain
25	chr12:29734800-29736800	Enhancers	NHLF	lung
26	chr12:29734800-29737200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr12:29735000-29736000	Enhancers	HUVEC	blood vessel
28	chr12:29735000-29736200	Enhancers	Ovary	ovary
29	chr12:29735200-29736000	Enhancers	Brain Hippocampus Middle	brain
30	chr12:29735200-29736000	Genic enhancers	Fetal Muscle Leg	muscle
31	chr12:29735200-29736000	Enhancers	Right Atrium	heart
32	chr12:29735200-29736000	Enhancers	HSMM	muscle
33	chr12:29735200-29736600	Enhancers	Brain Cingulate Gyrus	brain
34	chr12:29735200-29737000	Enhancers	Spleen	Spleen
35	chr12:29735200-29737200	Enhancers	Left Ventricle	heart
36	chr12:29735400-29736000	Enhancers	HSMMtube	muscle
37	chr12:29735400-29736400	Weak transcription	Lung	lung
38	chr12:29735400-29737000	Enhancers	Fetal Heart	heart
39	chr12:29735400-29737200	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr12:29735400-29745800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr12:29735600-29736000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr12:29735600-29736000	Enhancers	Small Intestine	intestine
43	chr12:29735600-29736000	Flanking Active TSS	Osteobl	bone
44	chr12:29735600-29736200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr12:29735600-29736600	Flanking Active TSS	Stomach Smooth Muscle	stomach
46	chr12:29735600-29737200	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr12:29735800-29736000	Enhancers	Fetal Kidney	kidney
48	chr12:29735800-29736000	Enhancers	Fetal Muscle Trunk	muscle
49	chr12:29735800-29736200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr12:29735800-29736200	Flanking Active TSS	Liver	Liver

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