Variant report

Variant	rs2568888
Chromosome Location	chr12:31613732-31613733
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:31612646..31614863-chr12:31619126..31621410,2	K562	blood:
2	chr12:31612902..31615422-chr12:31619825..31621917,2	MCF-7	breast:

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1012154	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1150942	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1150943	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1150945	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1150950	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1150953	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1150954	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1150955	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1150963	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1259233	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1259235	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1259239	0.82[EUR][1000 genomes]
rs1259241	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1259353	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1259354	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs1259422	0.82[ASN][1000 genomes]
rs1259430	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1259432	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1259435	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs1259437	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1259438	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1259441	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1262390	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1271128	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1271663	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1272773	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1677154	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1716216	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2568884	0.97[ASN][1000 genomes]
rs2568885	0.98[AFR][1000 genomes];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2568887	0.84[AFR][1000 genomes]
rs2617190	0.97[ASN][1000 genomes]
rs2617191	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2617200	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2682671	0.92[AFR][1000 genomes]
rs2682677	0.89[AFR][1000 genomes]
rs2682679	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2682686	0.82[EUR][1000 genomes]
rs2682695	0.86[AFR][1000 genomes]
rs2682697	0.93[ASN][1000 genomes]
rs708212	0.85[AFR][1000 genomes]
rs708215	0.85[AFR][1000 genomes]
rs708217	0.85[AFR][1000 genomes]
rs71440988	0.86[ASN][1000 genomes]
rs792875	0.85[AFR][1000 genomes]
rs793146	0.93[ASN][1000 genomes]
rs793148	0.92[AFR][1000 genomes]
rs793149	0.92[AFR][1000 genomes]
rs793150	0.89[AFR][1000 genomes]
rs793158	0.82[AFR][1000 genomes]
rs793161	0.85[AFR][1000 genomes]
rs793171	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs793173	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs793174	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs793175	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs793176	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs793177	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs793180	0.93[ASN][1000 genomes]
rs793184	0.97[ASN][1000 genomes]
rs793186	0.92[AFR][1000 genomes]
rs976874	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041877	chr12:31009451-31809254	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv541440	chr12:31009451-31809254	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	esv2751046	chr12:31174233-31684733	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv832364	chr12:31467990-31648144	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
5	esv1836923	chr12:31539122-31761172	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31536400-31624600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:31542400-31645000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr12:31549800-31618000	Weak transcription	Pancreas	Pancrea
4	chr12:31557200-31623600	Weak transcription	Hela-S3	cervix
5	chr12:31562400-31620600	Weak transcription	Brain Angular Gyrus	brain
6	chr12:31562400-31644400	Weak transcription	Brain Substantia Nigra	brain
7	chr12:31567400-31635800	Weak transcription	Osteobl	bone
8	chr12:31567800-31642800	Weak transcription	Brain Hippocampus Middle	brain
9	chr12:31572000-31631200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr12:31572000-31631200	Weak transcription	HSMMtube	muscle
11	chr12:31572400-31620200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr12:31572400-31627400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr12:31572400-31628400	Weak transcription	Right Ventricle	heart
14	chr12:31572400-31631200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr12:31577800-31649400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr12:31579000-31632000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr12:31579400-31626400	Weak transcription	Left Ventricle	heart
18	chr12:31579400-31632000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr12:31583400-31662000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:31585000-31631600	Weak transcription	Brain Anterior Caudate	brain
21	chr12:31585000-31642000	Weak transcription	Fetal Kidney	kidney
22	chr12:31585200-31620200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr12:31585400-31631800	Weak transcription	Fetal Lung	lung
24	chr12:31586200-31635800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr12:31588000-31615400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr12:31592000-31615000	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr12:31594400-31648400	Weak transcription	Small Intestine	intestine
28	chr12:31598000-31615000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr12:31598200-31615000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr12:31598600-31618000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr12:31600200-31626400	Weak transcription	Primary hematopoietic stem cells	blood
32	chr12:31600600-31619600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr12:31600600-31630400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr12:31600600-31632000	Weak transcription	Brain Germinal Matrix	brain
35	chr12:31600800-31631600	Weak transcription	Adipose Nuclei	Adipose
36	chr12:31603600-31619200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr12:31603800-31632600	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr12:31604400-31614800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr12:31605200-31618000	Weak transcription	Aorta	Aorta
40	chr12:31605400-31618000	Weak transcription	Spleen	Spleen
41	chr12:31605400-31630800	Weak transcription	Fetal Muscle Leg	muscle
42	chr12:31605400-31631200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr12:31605400-31647200	Weak transcription	Psoas Muscle	Psoas
44	chr12:31605600-31618800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr12:31605600-31632000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr12:31605600-31632200	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr12:31605600-31637000	Weak transcription	Fetal Stomach	stomach
48	chr12:31605800-31619600	Weak transcription	HepG2	liver
49	chr12:31606600-31624400	Weak transcription	Primary B cells from cord blood	blood
50	chr12:31607400-31631200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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