Variant report

Variant	rs12492463
Chromosome Location	chr3:47214964-47214965
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:47209847..47212241-chr3:47213273..47215317,2	K562	blood:
2	chr3:47212127..47215555-chr3:47216166..47219089,5	K562	blood:
3	chr3:47212755..47215203-chr3:47233129..47236003,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KLHL18-1	chr3:47210139-47219924	NONHSAT089480

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12487863	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12490244	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12490251	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12493011	0.84[AMR][1000 genomes]
rs12493723	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12495173	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12495438	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17079512	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2291721	0.95[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3821879	0.84[AMR][1000 genomes]
rs3933020	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4082156	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4627772	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4683318	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4683321	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4683323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58206566	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59601660	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60285825	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7638049	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876756	chr3:47002931-47586514	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv1007714	chr3:47084387-47331570	Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv590211	chr3:47189485-47256057	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv3801	chr3:47201530-47246438	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47206800-47228000	Weak transcription	Spleen	Spleen
2	chr3:47207000-47222400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:47207000-47224400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr3:47207000-47253800	Weak transcription	Aorta	Aorta
5	chr3:47207200-47215600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr3:47207200-47219400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr3:47207200-47220000	Weak transcription	Thymus	Thymus
8	chr3:47207200-47222200	Weak transcription	Fetal Intestine Large	intestine
9	chr3:47207200-47225800	Weak transcription	Placenta	Placenta
10	chr3:47207200-47235800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr3:47207400-47220800	Weak transcription	HSMMtube	muscle
12	chr3:47207400-47224400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr3:47207600-47215600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr3:47207600-47216800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr3:47207800-47215200	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr3:47207800-47216200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr3:47207800-47217000	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr3:47207800-47217000	Weak transcription	Right Ventricle	heart
19	chr3:47207800-47217400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr3:47207800-47221800	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr3:47207800-47222000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr3:47207800-47222400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr3:47207800-47222600	Weak transcription	Small Intestine	intestine
24	chr3:47207800-47223600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr3:47207800-47224200	Weak transcription	NH-A	brain
26	chr3:47207800-47224800	Weak transcription	Adipose Nuclei	Adipose
27	chr3:47207800-47228000	Weak transcription	HMEC	breast
28	chr3:47208000-47215200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr3:47208000-47215400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr3:47208000-47215400	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr3:47208000-47215600	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr3:47208000-47216200	Weak transcription	Primary B cells from cord blood	blood
33	chr3:47208000-47217200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr3:47208000-47217200	Weak transcription	Left Ventricle	heart
35	chr3:47208000-47217200	Weak transcription	NHDF-Ad	bronchial
36	chr3:47208000-47219400	Weak transcription	Pancreas	Pancrea
37	chr3:47208000-47220400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr3:47208000-47220800	Weak transcription	Fetal Muscle Leg	muscle
39	chr3:47208000-47221000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr3:47208000-47221600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr3:47208000-47222000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr3:47208000-47222000	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr3:47208000-47222000	Weak transcription	NHEK	skin
44	chr3:47208000-47222000	Weak transcription	Osteobl	bone
45	chr3:47208000-47222400	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr3:47208000-47223600	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr3:47208000-47223800	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr3:47208000-47227800	Weak transcription	K562	blood
49	chr3:47208000-47230600	Weak transcription	Brain Hippocampus Middle	brain
50	chr3:47208000-47249600	Weak transcription	Ovary	ovary

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