Variant report

Variant	rs74082503
Chromosome Location	chr12:29894563-29894564
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:29893612..29896534-chr12:29900997..29903982,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs55778831	1.00[AMR][1000 genomes]
rs55934007	1.00[AMR][1000 genomes]
rs55988236	1.00[AMR][1000 genomes]
rs60245158	1.00[AMR][1000 genomes]
rs60503584	1.00[AMR][1000 genomes]
rs74078909	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv528476	chr12:29884553-29895535	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29863400-29895800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr12:29879800-29896800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:29880000-29921200	Weak transcription	Fetal Kidney	kidney
4	chr12:29880200-29895800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr12:29881000-29895600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:29881600-29915800	Weak transcription	Brain Substantia Nigra	brain
7	chr12:29885600-29895800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:29886800-29895800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr12:29887400-29902000	Weak transcription	Brain Anterior Caudate	brain
10	chr12:29887400-29915600	Weak transcription	Brain Angular Gyrus	brain
11	chr12:29888200-29894800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr12:29888400-29901200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr12:29888800-29915600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr12:29889000-29895800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr12:29889200-29903200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr12:29889400-29896800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr12:29890000-29896200	Weak transcription	Fetal Brain Male	brain
18	chr12:29890200-29904200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr12:29890200-29915600	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr12:29890600-29913000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:29891000-29894600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr12:29891000-29894600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr12:29891000-29896000	Weak transcription	Stomach Smooth Muscle	stomach
24	chr12:29891400-29894600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr12:29892400-29896000	Weak transcription	Right Ventricle	heart
26	chr12:29892400-29896800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr12:29892400-29903000	Weak transcription	Aorta	Aorta
28	chr12:29892400-29903000	Weak transcription	Spleen	Spleen
29	chr12:29892400-29904400	Weak transcription	Esophagus	oesophagus
30	chr12:29892600-29896400	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr12:29892800-29901600	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr12:29893000-29894600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr12:29893200-29903000	Weak transcription	Fetal Muscle Trunk	muscle
34	chr12:29893200-29903000	Weak transcription	Fetal Stomach	stomach
35	chr12:29893400-29898000	Enhancers	HMEC	breast
36	chr12:29893600-29898200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr12:29893800-29894600	Enhancers	Left Ventricle	heart
38	chr12:29893800-29896000	Weak transcription	Psoas Muscle	Psoas
39	chr12:29893800-29897800	Weak transcription	Fetal Muscle Leg	muscle
40	chr12:29894000-29894600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:29894000-29894800	Enhancers	Adipose Nuclei	Adipose
42	chr12:29894000-29897000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr12:29894200-29894600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr12:29894200-29894600	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr12:29894200-29894600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
46	chr12:29894200-29894600	Enhancers	Colon Smooth Muscle	Colon
47	chr12:29894200-29894600	Flanking Active TSS	Fetal Heart	heart
48	chr12:29894200-29894600	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr12:29894200-29894600	Flanking Active TSS	HSMM	muscle
50	chr12:29894200-29894600	Flanking Active TSS	NH-A	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links