Variant report

Variant	rs12627944
Chromosome Location	chr22:30432502-30432503
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30431981..30436228-chr22:30436988..30442132,5	MCF-7	breast:
2	chr22:30422072..30424953-chr22:30431511..30433741,2	MCF-7	breast:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10222281	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10483158	0.90[AMR][1000 genomes]
rs11090591	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11090592	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11090597	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11090600	0.90[AMR][1000 genomes]
rs11090601	0.90[AMR][1000 genomes]
rs11704206	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11704885	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11705048	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11705207	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11705418	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12165769	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12166755	0.87[ASN][1000 genomes]
rs12166998	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12169823	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12330007	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12330076	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12627856	0.87[ASN][1000 genomes]
rs17644868	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17644886	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17647135	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17713646	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34647160	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs3788425	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs737905	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs737906	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs737907	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs739615	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs916782	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9620928	0.87[ASN][1000 genomes]
rs9620929	0.87[ASN][1000 genomes]
rs9620935	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9620936	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9620944	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9620948	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9620955	0.90[AMR][1000 genomes]
rs9625883	0.87[ASN][1000 genomes]
rs9625886	0.87[ASN][1000 genomes]
rs9625887	0.87[ASN][1000 genomes]
rs9625889	0.87[ASN][1000 genomes]
rs9625894	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9625895	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9625896	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9625899	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9625910	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9625914	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9625922	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9625924	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9625930	0.97[AMR][1000 genomes];0.85[EUR][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	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30390200-30434200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:30391400-30433000	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr22:30409000-30432800	Strong transcription	Fetal Stomach	stomach
4	chr22:30419600-30434400	Weak transcription	Small Intestine	intestine
5	chr22:30422400-30434200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr22:30422400-30434200	Weak transcription	HUVEC	blood vessel
7	chr22:30423000-30432600	Weak transcription	NH-A	brain
8	chr22:30423400-30434400	Weak transcription	A549	lung
9	chr22:30423600-30447600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr22:30424200-30434000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr22:30424600-30432600	Weak transcription	HMEC	breast
12	chr22:30424600-30435600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr22:30424800-30443000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr22:30425000-30434200	Weak transcription	Gastric	stomach
15	chr22:30425200-30434000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr22:30425200-30434200	Weak transcription	Pancreas	Pancrea
17	chr22:30425200-30434200	Weak transcription	NHLF	lung
18	chr22:30425200-30435800	Weak transcription	Stomach Smooth Muscle	stomach
19	chr22:30425200-30438800	Weak transcription	Fetal Intestine Large	intestine
20	chr22:30425200-30440000	Weak transcription	Fetal Lung	lung
21	chr22:30425200-30440200	Weak transcription	Brain Germinal Matrix	brain
22	chr22:30425600-30439400	Weak transcription	Duodenum Mucosa	Duodenum
23	chr22:30425800-30433000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr22:30425800-30433800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr22:30425800-30434000	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr22:30425800-30434800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr22:30425800-30435400	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr22:30425800-30439800	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr22:30425800-30442000	Weak transcription	Fetal Brain Female	brain
30	chr22:30426000-30434400	Weak transcription	Left Ventricle	heart
31	chr22:30426200-30434000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr22:30426200-30434200	Weak transcription	Lung	lung
33	chr22:30426600-30443000	Weak transcription	Thymus	Thymus
34	chr22:30427600-30432600	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr22:30429200-30434200	Weak transcription	Psoas Muscle	Psoas
36	chr22:30429400-30439800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr22:30429800-30433000	Weak transcription	Ovary	ovary
38	chr22:30429800-30434600	Weak transcription	Right Atrium	heart
39	chr22:30429800-30435000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr22:30430200-30432800	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr22:30430200-30434000	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr22:30430200-30434000	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr22:30430200-30442800	Weak transcription	Spleen	Spleen
44	chr22:30430200-30449600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr22:30430400-30433600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr22:30430400-30434400	Weak transcription	Liver	Liver
47	chr22:30430400-30434400	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr22:30430400-30435800	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr22:30430800-30436200	Weak transcription	Fetal Muscle Trunk	muscle
50	chr22:30430800-30439400	Weak transcription	Fetal Intestine Small	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links