Variant report

Variant	rs73221420
Chromosome Location	chr12:124493509-124493510
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:124464712..124466327-chr12:124492500..124494762,2	K562	blood:
2	chr12:124485640..124488869-chr12:124491698..124495418,5	K562	blood:
3	chr12:124492436..124495836-chr12:124497804..124500865,3	K562	blood:
4	chr12:124490934..124492514-chr12:124492515..124494381,2	K562	blood:
5	chr12:124493164..124494909-chr12:124500524..124502478,2	MCF-7	breast:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs3767	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73221416	1.00[AMR][1000 genomes];1.00[EUR][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	esv3493374	chr12:124458433-124496012	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv3493363	chr12:124458497-124495976	Strong transcription Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv3493385	chr12:124458565-124495928	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124461200-124496800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr12:124480600-124496200	Weak transcription	Small Intestine	intestine
3	chr12:124483600-124494800	Weak transcription	HUVEC	blood vessel
4	chr12:124483600-124495000	Weak transcription	NH-A	brain
5	chr12:124484400-124498400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:124485000-124498800	Strong transcription	Hela-S3	cervix
7	chr12:124486000-124496400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr12:124486400-124496200	Weak transcription	HMEC	breast
9	chr12:124486800-124496200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr12:124486800-124496200	Weak transcription	NHLF	lung
11	chr12:124487000-124495200	Weak transcription	Osteobl	bone
12	chr12:124487000-124495800	Weak transcription	Ovary	ovary
13	chr12:124487200-124495400	Weak transcription	Esophagus	oesophagus
14	chr12:124488400-124498400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr12:124489200-124495000	Weak transcription	A549	lung
16	chr12:124489200-124510400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:124489400-124495000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr12:124489800-124493600	Enhancers	Brain Hippocampus Middle	brain
19	chr12:124489800-124496200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr12:124490000-124493600	Enhancers	Brain Anterior Caudate	brain
21	chr12:124490000-124493600	Enhancers	Brain Cingulate Gyrus	brain
22	chr12:124490000-124493600	Enhancers	Right Atrium	heart
23	chr12:124490200-124493600	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:124490200-124493600	Enhancers	Liver	Liver
25	chr12:124490200-124493600	Enhancers	Brain Angular Gyrus	brain
26	chr12:124490200-124493600	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr12:124490400-124498800	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr12:124490400-124500400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:124490600-124493600	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr12:124490600-124493800	Enhancers	Brain Substantia Nigra	brain
31	chr12:124490600-124494400	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr12:124490600-124495000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr12:124490800-124496000	Weak transcription	Colon Smooth Muscle	Colon
34	chr12:124491000-124493600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr12:124491000-124493600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr12:124491000-124495200	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr12:124491000-124496200	Weak transcription	Gastric	stomach
38	chr12:124491000-124497000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr12:124491000-124497600	Weak transcription	Colonic Mucosa	Colon
40	chr12:124491200-124495200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr12:124491200-124496200	Weak transcription	NHEK	skin
42	chr12:124491600-124498400	Strong transcription	Placenta	Placenta
43	chr12:124491600-124499400	Strong transcription	Duodenum Mucosa	Duodenum
44	chr12:124491800-124493600	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr12:124491800-124493600	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr12:124491800-124495800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr12:124491800-124496200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr12:124491800-124497800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr12:124492000-124494600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr12:124492000-124495400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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