Variant report

Variant	rs12630917
Chromosome Location	chr3:49990559-49990560
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs11130223	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11130225	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11130230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11130237	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11130239	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11130240	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11916261	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11916999	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11920034	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11923132	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11924670	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11924711	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11925156	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12486470	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12486808	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12486832	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12489386	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12490944	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12492291	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12493565	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12494077	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12494172	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12494916	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12495114	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12495831	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12629129	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12629553	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12629677	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12630959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12631248	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12631306	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12631309	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12631608	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12632751	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12636045	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs12636669	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12637222	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12637457	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12637681	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12638046	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1317215	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13326300	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2023951	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2023952	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28478136	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35333166	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs41291716	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55643042	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57009357	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57575459	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58025924	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58621288	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58766761	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59802870	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61263937	0.89[EUR][1000 genomes]
rs61491513	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61729114	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62260717	0.80[EUR][1000 genomes]
rs62260756	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62262060	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62262095	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62262096	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62262099	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62262100	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62262104	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62262105	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62262116	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62262117	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62262136	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62262138	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62262144	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62262145	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62262148	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62263578	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62263580	0.88[EUR][1000 genomes]
rs62263584	0.88[EUR][1000 genomes]
rs62263586	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62263588	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62263590	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62263591	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62263600	0.87[AMR][1000 genomes]
rs6797500	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9813644	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9859813	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834688	chr3:49811115-50019299	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv876767	chr3:49918751-50153356	Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv834689	chr3:49962930-50085119	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv965334	chr3:49967342-50000012	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
5	nsv1012903	chr3:49978765-50071878	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	esv3463339	chr3:49986019-49993235	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3463340	chr3:49986019-49993235	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49978800-50000600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr3:49978800-50004800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr3:49978800-50009600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr3:49978800-50009600	Weak transcription	Fetal Kidney	kidney
5	chr3:49978800-50041000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr3:49979000-49990600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr3:49979000-49994600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr3:49979000-49997400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr3:49979000-50000000	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr3:49979000-50000600	Weak transcription	Primary T cells from cord blood	blood
11	chr3:49979000-50001000	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr3:49979000-50003400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr3:49979000-50003600	Weak transcription	Right Ventricle	heart
14	chr3:49979000-50005200	Weak transcription	Fetal Muscle Trunk	muscle
15	chr3:49979000-50010200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr3:49979400-49990800	Weak transcription	Thymus	Thymus
17	chr3:49979400-49995400	Weak transcription	Placenta	Placenta
18	chr3:49979400-49999000	Weak transcription	Fetal Thymus	thymus
19	chr3:49979400-49999600	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr3:49979400-50000400	Weak transcription	Brain Germinal Matrix	brain
21	chr3:49979600-49999800	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr3:49979600-50004200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr3:49980200-49991400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr3:49980400-49997400	Weak transcription	HepG2	liver
25	chr3:49980400-50003600	Weak transcription	Brain Angular Gyrus	brain
26	chr3:49980600-49999600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr3:49980600-50000000	Weak transcription	Dnd41	blood
28	chr3:49980600-50001800	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr3:49981400-49999800	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr3:49981600-49999600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr3:49983800-49997600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr3:49983800-49999200	Weak transcription	Fetal Muscle Leg	muscle
33	chr3:49983800-50003400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr3:49984000-49998200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr3:49984000-50000400	Weak transcription	Fetal Intestine Large	intestine
36	chr3:49984200-49994800	Weak transcription	Liver	Liver
37	chr3:49984200-49998400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr3:49985400-49994800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr3:49985600-50000600	Weak transcription	Primary B cells from cord blood	blood
40	chr3:49986000-50000600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr3:49987000-49991800	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr3:49987000-49997400	Weak transcription	Right Atrium	heart
43	chr3:49987600-49997800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr3:49987800-49997400	Weak transcription	Primary B cells from peripheral blood	blood
45	chr3:49988000-49997200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr3:49988000-49997400	Weak transcription	Left Ventricle	heart
47	chr3:49988000-50000600	Weak transcription	Duodenum Mucosa	Duodenum
48	chr3:49988000-50003000	Weak transcription	NHEK	skin
49	chr3:49988000-50003600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr3:49988000-50004200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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