Variant report

Variant	rs12068631
Chromosome Location	chr1:151005763-151005764
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:151005028..151012583-chr1:151026392..151034442,13	K562	blood:
2	chr1:150996555..150999448-chr1:151003489..151006449,2	K562	blood:
3	chr1:150997115..151004935-chr1:151005196..151010372,8	MCF-7	breast:
4	chr1:151002864..151005817-chr1:151007224..151009647,2	K562	blood:

Variant related genes	Relation type
ENSG00000163141	Chromatin interaction
ENSG00000197622	Chromatin interaction
ENSG00000213190	Chromatin interaction
ENSG00000143363	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11204755	0.81[EUR][1000 genomes]
rs11204765	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11204766	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12067174	0.84[AFR][1000 genomes]
rs12068365	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12070288	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12073630	0.81[EUR][1000 genomes]
rs12074446	0.81[EUR][1000 genomes]
rs12075317	0.81[EUR][1000 genomes]
rs12078033	0.81[EUR][1000 genomes]
rs1673161	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16832976	0.87[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs2925740	0.81[EUR][1000 genomes]
rs3002292	0.91[EUR][1000 genomes]
rs41266632	0.84[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs4418603	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6664387	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6695311	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7526955	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs955955	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9661107	0.84[EUR][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	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
4	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12068631	GABPB2	cis	brain	BrainEAC

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150981800-151006400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:150982000-151009000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:150984200-151006400	Weak transcription	HMEC	breast
4	chr1:150986200-151006200	Weak transcription	Pancreas	Pancrea
5	chr1:150989800-151010400	Strong transcription	Fetal Stomach	stomach
6	chr1:150996000-151006600	Weak transcription	NH-A	brain
7	chr1:150996200-151008400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr1:150996600-151009200	Strong transcription	Fetal Intestine Large	intestine
9	chr1:150996600-151009800	Strong transcription	Fetal Intestine Small	intestine
10	chr1:150997000-151007800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:150997000-151008000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:150997000-151008200	Strong transcription	Duodenum Mucosa	Duodenum
13	chr1:150997200-151008000	Strong transcription	Dnd41	blood
14	chr1:150997400-151006400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr1:150997400-151007400	Weak transcription	Stomach Mucosa	stomach
16	chr1:150997400-151008000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:150997400-151008000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr1:150997400-151008000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr1:150997400-151008200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:150997400-151008400	Strong transcription	Fetal Muscle Trunk	muscle
21	chr1:150997400-151009400	Strong transcription	Fetal Thymus	thymus
22	chr1:150997400-151009800	Strong transcription	Fetal Muscle Leg	muscle
23	chr1:150997600-151008000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr1:150997600-151008000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr1:150997600-151008200	Strong transcription	Adipose Nuclei	Adipose
26	chr1:150997600-151008800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr1:150997600-151009400	Strong transcription	Liver	Liver
28	chr1:150997600-151015400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr1:150997600-151019800	Weak transcription	HUVEC	blood vessel
30	chr1:150997800-151008400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:150997800-151019800	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr1:150998000-151008000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr1:150998800-151008000	Strong transcription	Stomach Smooth Muscle	stomach
34	chr1:150999200-151008000	Strong transcription	Ovary	ovary
35	chr1:150999200-151010000	Strong transcription	Fetal Brain Female	brain
36	chr1:150999400-151008000	Strong transcription	Brain Germinal Matrix	brain
37	chr1:150999400-151008200	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr1:151000000-151006200	Weak transcription	GM12878-XiMat	blood
39	chr1:151000000-151019800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr1:151000000-151019800	Weak transcription	NHLF	lung
41	chr1:151000200-151006200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr1:151000200-151006400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr1:151000200-151006400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr1:151000200-151019800	Weak transcription	Small Intestine	intestine
45	chr1:151000400-151007200	Weak transcription	Fetal Heart	heart
46	chr1:151001600-151006200	Weak transcription	Gastric	stomach
47	chr1:151001600-151006200	Weak transcription	A549	lung
48	chr1:151001600-151006200	Weak transcription	NHEK	skin
49	chr1:151001600-151006400	Weak transcription	Colonic Mucosa	Colon
50	chr1:151001600-151006600	Weak transcription	Psoas Muscle	Psoas

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