Variant report

Variant	rs12330831
Chromosome Location	chr3:150981442-150981443
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	chr3:150973802..150976430-chr3:150980938..150983221,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1048408	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10513392	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11714714	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11717955	0.88[ASN][1000 genomes]
rs11719936	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12488267	0.95[ASN][1000 genomes]
rs12494865	0.84[ASN][1000 genomes]
rs1317465	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1352886	0.82[ASN][1000 genomes]
rs1472122	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1565574	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16863323	0.84[ASN][1000 genomes]
rs16863334	0.84[ASN][1000 genomes]
rs16863336	0.82[ASN][1000 genomes]
rs1844924	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1882014	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1882015	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1882017	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1920396	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28371419	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28497341	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2904430	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4076581	0.83[ASN][1000 genomes]
rs4475010	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4679783	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56105302	0.84[ASN][1000 genomes]
rs56367650	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58334126	0.89[ASN][1000 genomes]
rs62283021	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6765215	0.84[ASN][1000 genomes]
rs6768130	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6782313	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6807308	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7617677	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7621113	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7621183	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7621211	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7623448	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7653603	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8180086	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9757688	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9810067	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9827619	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9828553	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9829753	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9870740	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9875152	0.87[EUR][1000 genomes];0.84[ASN][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	nsv460894	chr3:150770614-151095093	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv592045	chr3:150770614-151095093	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	esv2754555	chr3:150968302-151054302	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150946800-150983600	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr3:150953800-150983800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr3:150961200-150983600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr3:150967000-150982600	Weak transcription	Gastric	stomach
5	chr3:150971200-150983800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:150973800-150983800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr3:150974000-150983600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr3:150974400-150982600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr3:150974400-150987600	Weak transcription	Aorta	Aorta
10	chr3:150974800-150983800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr3:150977000-150983600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr3:150977400-150982400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr3:150977600-150984000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr3:150977800-151000000	Weak transcription	Placenta	Placenta
15	chr3:150978000-150982400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr3:150978000-150983600	Weak transcription	Fetal Muscle Trunk	muscle
17	chr3:150978400-150982000	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr3:150978400-150982400	Weak transcription	Stomach Mucosa	stomach
19	chr3:150978600-150982000	Weak transcription	Primary hematopoietic stem cells	blood
20	chr3:150978600-150982800	Weak transcription	Brain Hippocampus Middle	brain
21	chr3:150978800-150982400	Weak transcription	Primary B cells from peripheral blood	blood
22	chr3:150979400-150987600	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr3:150980200-150982800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr3:150980200-150983000	Enhancers	NHDF-Ad	bronchial
25	chr3:150980200-150983400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr3:150980600-150981800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr3:150980800-150982000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr3:150980800-150983200	Enhancers	Fetal Lung	lung
29	chr3:150980800-150983600	Enhancers	Colon Smooth Muscle	Colon
30	chr3:150981000-150981600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr3:150981000-150982400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr3:150981000-150982400	Weak transcription	Left Ventricle	heart
33	chr3:150981000-150983600	Weak transcription	Spleen	Spleen
34	chr3:150981200-150981600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr3:150981200-150984400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr3:150981400-150981600	Enhancers	Fetal Muscle Leg	muscle
37	chr3:150981400-150981800	Weak transcription	Rectal Smooth Muscle	rectum
38	chr3:150981400-150983400	Enhancers	Primary B cells from cord blood	blood
39	chr3:150981400-150984600	Enhancers	Fetal Stomach	stomach
40	chr3:150981400-150986800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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