Variant report

Variant	rs280588
Chromosome Location	chr12:120271611-120271612
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:120269999..120272501-chr12:120274560..120276087,2	K562	blood:
2	chr12:120260854..120262430-chr12:120271416..120273361,2	K562	blood:
3	chr12:120271067..120273765-chr12:120347314..120349886,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10744743	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10774514	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10774515	0.91[EUR][1000 genomes]
rs10774516	0.93[EUR][1000 genomes]
rs1182807	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1796127	0.81[EUR][1000 genomes]
rs203336	0.90[EUR][1000 genomes]
rs203340	0.85[EUR][1000 genomes]
rs203356	0.90[EUR][1000 genomes]
rs2107661	0.85[EUR][1000 genomes]
rs280582	0.91[EUR][1000 genomes]
rs280583	0.83[EUR][1000 genomes]
rs280589	0.95[EUR][1000 genomes]
rs372803	0.90[EUR][1000 genomes]
rs377876	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3847959	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3847960	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs430998	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs435136	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs450902	0.90[EUR][1000 genomes]
rs473430	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4767847	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4767848	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4767849	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6490270	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7294469	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7308076	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs740032	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs804709	0.84[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	nsv455727	chr12:120259679-120420670	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv560397	chr12:120259679-120420670	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120209400-120293600	Weak transcription	Primary T cells from cord blood	blood
2	chr12:120223000-120314400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr12:120241600-120276600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:120242600-120276600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:120242600-120276800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr12:120242600-120279000	Weak transcription	Fetal Intestine Small	intestine
7	chr12:120242600-120279400	Weak transcription	Fetal Intestine Large	intestine
8	chr12:120242600-120293800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr12:120242600-120294400	Weak transcription	Fetal Kidney	kidney
10	chr12:120242800-120287800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:120243200-120288200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr12:120245200-120273000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr12:120245200-120276400	Weak transcription	Fetal Muscle Leg	muscle
14	chr12:120245600-120285200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr12:120247000-120274600	Weak transcription	HMEC	breast
16	chr12:120247200-120274400	Weak transcription	NHEK	skin
17	chr12:120247200-120285800	Weak transcription	NHLF	lung
18	chr12:120247400-120285800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr12:120247800-120272800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:120253800-120272400	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr12:120254800-120286400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr12:120254800-120314600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr12:120256600-120304000	Weak transcription	Fetal Heart	heart
24	chr12:120257400-120277800	Weak transcription	Fetal Brain Female	brain
25	chr12:120257800-120275000	Weak transcription	K562	blood
26	chr12:120258000-120276600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:120259000-120273600	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr12:120259200-120311800	Strong transcription	Dnd41	blood
29	chr12:120260000-120280600	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr12:120260600-120285800	Weak transcription	NH-A	brain
31	chr12:120260800-120279200	Weak transcription	HUVEC	blood vessel
32	chr12:120262200-120273800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr12:120262200-120281200	Weak transcription	Esophagus	oesophagus
34	chr12:120263000-120272200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr12:120263000-120273800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr12:120263000-120279600	Weak transcription	Primary B cells from cord blood	blood
37	chr12:120265000-120276400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr12:120265000-120276600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr12:120265000-120279400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr12:120265200-120301800	Weak transcription	Osteobl	bone
41	chr12:120266400-120289200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:120266600-120274200	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr12:120266800-120273600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr12:120267000-120272800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr12:120267200-120273600	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr12:120267200-120273800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr12:120267400-120273600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr12:120267400-120273800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr12:120267600-120274800	Weak transcription	GM12878-XiMat	blood
50	chr12:120268200-120272000	Strong transcription	Primary neutrophils fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links