Variant report

Variant	rs7966109
Chromosome Location	chr12:105398244-105398245
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:105391750..105393633-chr12:105396940..105398737,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10082824	1.00[ASN][1000 genomes]
rs10083185	1.00[ASN][1000 genomes]
rs11112291	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112292	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112293	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112294	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112295	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112315	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112316	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112318	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112333	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11112381	1.00[ASN][1000 genomes]
rs11112389	1.00[ASN][1000 genomes]
rs11495192	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11829598	1.00[ASN][1000 genomes]
rs12307372	1.00[ASN][1000 genomes]
rs12369202	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12369490	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12372369	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12372454	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12425803	1.00[ASN][1000 genomes]
rs17036595	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17036608	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1801070	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35149056	1.00[ASN][1000 genomes]
rs3910856	1.00[ASN][1000 genomes]
rs55679730	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55916348	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56284118	1.00[ASN][1000 genomes]
rs56862143	1.00[ASN][1000 genomes]
rs60835294	1.00[ASN][1000 genomes]
rs6539184	1.00[ASN][1000 genomes]
rs7136453	1.00[ASN][1000 genomes]
rs7138574	1.00[ASN][1000 genomes]
rs7300730	1.00[ASN][1000 genomes]
rs7310860	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7313309	1.00[ASN][1000 genomes]
rs7315964	1.00[ASN][1000 genomes]
rs73179946	1.00[ASN][1000 genomes]
rs73179970	1.00[ASN][1000 genomes]
rs73179974	1.00[ASN][1000 genomes]
rs73179990	1.00[ASN][1000 genomes]
rs73179996	1.00[ASN][1000 genomes]
rs73179998	1.00[ASN][1000 genomes]
rs73180001	1.00[ASN][1000 genomes]
rs73191788	1.00[ASN][1000 genomes]
rs73193611	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73193619	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73193626	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73193630	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73193631	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7956643	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7975787	1.00[ASN][1000 genomes]
rs7978034	1.00[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	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv899498	chr12:105173598-105461620	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
3	nsv832505	chr12:105315352-105497765	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105381800-105407400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:105381800-105411400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr12:105382000-105401400	Strong transcription	HUES6 Cell Line	embryonic stem cell
4	chr12:105382000-105401400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
5	chr12:105382200-105401400	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr12:105382200-105402000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr12:105382200-105402000	Strong transcription	Cortex derived primary cultured neurospheres	brain
8	chr12:105382200-105402000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:105382200-105402600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:105382400-105401200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr12:105382400-105401400	Strong transcription	Liver	Liver
12	chr12:105383000-105402000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr12:105383400-105399000	Strong transcription	Primary B cells from peripheral blood	blood
14	chr12:105383600-105401600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr12:105383800-105401200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:105384000-105402000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr12:105384800-105400000	Strong transcription	Brain Anterior Caudate	brain
18	chr12:105385800-105401400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr12:105385800-105408400	Weak transcription	Fetal Heart	heart
20	chr12:105387400-105403000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr12:105387600-105412200	Weak transcription	HepG2	liver
22	chr12:105389000-105430600	Weak transcription	Hela-S3	cervix
23	chr12:105389400-105406800	Weak transcription	NH-A	brain
24	chr12:105389400-105411200	Weak transcription	Osteobl	bone
25	chr12:105390200-105404000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr12:105391000-105407400	Weak transcription	NHDF-Ad	bronchial
27	chr12:105392200-105399400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr12:105392200-105400600	Strong transcription	HMEC	breast
29	chr12:105393000-105401000	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr12:105393000-105401400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr12:105393000-105401400	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr12:105393200-105399200	Weak transcription	Aorta	Aorta
33	chr12:105393200-105399800	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr12:105393200-105400400	Strong transcription	Fetal Brain Female	brain
35	chr12:105393200-105401200	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr12:105393200-105401400	Strong transcription	Duodenum Mucosa	Duodenum
37	chr12:105393200-105411400	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr12:105393200-105418200	Weak transcription	Rectal Smooth Muscle	rectum
39	chr12:105393400-105421200	Weak transcription	NHLF	lung
40	chr12:105393600-105399800	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr12:105393600-105412000	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr12:105393800-105399000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr12:105393800-105399200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:105393800-105399200	Weak transcription	Gastric	stomach
45	chr12:105393800-105405800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr12:105393800-105406200	Weak transcription	Fetal Intestine Small	intestine
47	chr12:105393800-105406400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr12:105393800-105406400	Weak transcription	Spleen	Spleen
49	chr12:105393800-105406600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr12:105393800-105407000	Weak transcription	Pancreas	Pancrea

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