Variant report

Variant	rs12334783
Chromosome Location	chr8:95557532-95557533
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:95556183..95559262-chr8:95651441..95653267,3	MCF-7	breast:
2	chr8:95548641..95550186-chr8:95556999..95558731,2	K562	blood:
3	chr8:95429301..95430964-chr8:95556337..95558310,2	MCF-7	breast:
4	chr8:95554974..95557880-chr8:95564950..95566849,3	MCF-7	breast:
5	chr8:95555945..95557652-chr8:95557953..95559866,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000212997	Chromatin interaction
ENSG00000164944	Chromatin interaction
ENSG00000253704	Chromatin interaction
ENSG00000261437	Chromatin interaction

Extended variants
information (count: 99 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10086307	0.96[EUR][1000 genomes]
rs10086311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10087221	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10089982	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10090029	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10090628	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10093542	0.96[EUR][1000 genomes]
rs10094155	1.00[EUR][1000 genomes]
rs10094298	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10094477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10095474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10095883	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10097107	0.96[EUR][1000 genomes]
rs10098298	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10098682	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10102139	0.96[EUR][1000 genomes]
rs10103436	0.96[EUR][1000 genomes]
rs10104301	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10104797	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10105476	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10106455	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10110389	0.96[EUR][1000 genomes]
rs10111251	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10111789	0.91[AMR][1000 genomes]
rs10217108	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10441536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10441537	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1055798	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12334369	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12334578	0.96[EUR][1000 genomes]
rs12334844	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12334990	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12335104	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13438933	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13438940	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13439154	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13439558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13439676	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2119461	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2381883	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28386976	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28397924	0.96[EUR][1000 genomes]
rs28406352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28409018	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28420254	0.96[EUR][1000 genomes]
rs28436849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28449797	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28475734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28480604	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28481457	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28498495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28502182	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28524089	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28526027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28539788	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28542193	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28563951	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28564036	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28572173	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28608052	0.96[EUR][1000 genomes]
rs28634264	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28666401	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28681034	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28775004	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28791815	0.83[AMR][1000 genomes]
rs28805925	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28829590	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28848914	0.89[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs28897138	0.91[AMR][1000 genomes]
rs3136421	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4567002	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56859277	0.96[EUR][1000 genomes]
rs57897120	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6992902	0.96[EUR][1000 genomes]
rs6998829	0.96[EUR][1000 genomes]
rs73695616	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73695617	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73695619	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73695620	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73695622	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73695624	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73698013	0.96[EUR][1000 genomes]
rs7835534	1.00[AFR][1000 genomes]
rs8117	1.00[EUR][1000 genomes]
rs9297938	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv429928	chr8:95488800-95672033	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv611750	chr8:95519205-95574634	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv1017256	chr8:95555083-95570079	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv1026768	chr8:95556054-95569566	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1033318	chr8:95556054-95576338	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv1032065	chr8:95556054-95578349	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv1016339	chr8:95556054-95585807	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv1021702	chr8:95556054-95589194	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
12	nsv1033345	chr8:95556375-95570533	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv1029802	chr8:95556959-95578349	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	esv3584580	chr8:95557287-95576350	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr8:95497200-95564200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr8:95532800-95558800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr8:95537000-95558600	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr8:95541600-95563600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr8:95541600-95563800	Weak transcription	Stomach Mucosa	stomach
6	chr8:95543200-95563200	Weak transcription	Fetal Brain Male	brain
7	chr8:95543200-95564800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr8:95543200-95564800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr8:95543600-95558000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr8:95543600-95564000	Weak transcription	HSMMtube	muscle
11	chr8:95544400-95558000	Strong transcription	Primary B cells from peripheral blood	blood
12	chr8:95545200-95564000	Weak transcription	Psoas Muscle	Psoas
13	chr8:95546200-95564800	Weak transcription	Esophagus	oesophagus
14	chr8:95546400-95564000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr8:95546400-95564000	Weak transcription	Aorta	Aorta
16	chr8:95546600-95563600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr8:95546800-95558400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr8:95546800-95563600	Weak transcription	Brain Angular Gyrus	brain
19	chr8:95547000-95563000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr8:95547000-95564000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr8:95547000-95565000	Weak transcription	Pancreas	Pancrea
22	chr8:95547200-95563200	Weak transcription	Gastric	stomach
23	chr8:95547400-95563200	Weak transcription	Brain Substantia Nigra	brain
24	chr8:95547400-95563600	Weak transcription	Rectal Smooth Muscle	rectum
25	chr8:95548000-95563600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr8:95548400-95563800	Weak transcription	Brain Hippocampus Middle	brain
27	chr8:95548400-95563800	Weak transcription	Small Intestine	intestine
28	chr8:95548800-95564000	Weak transcription	Colonic Mucosa	Colon
29	chr8:95549000-95558800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr8:95549000-95563000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr8:95549000-95563800	Weak transcription	HUVEC	blood vessel
32	chr8:95549000-95564000	Weak transcription	Brain Cingulate Gyrus	brain
33	chr8:95549000-95564000	Weak transcription	Brain Germinal Matrix	brain
34	chr8:95549400-95561800	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr8:95549400-95563200	Weak transcription	Ovary	ovary
36	chr8:95549400-95563400	Weak transcription	NHDF-Ad	bronchial
37	chr8:95549400-95564000	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr8:95549600-95563800	Weak transcription	Brain Anterior Caudate	brain
39	chr8:95550000-95563600	Weak transcription	NH-A	brain
40	chr8:95550400-95563200	Weak transcription	Fetal Brain Female	brain
41	chr8:95550600-95564000	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr8:95550600-95564400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr8:95551600-95564800	Weak transcription	Thymus	Thymus
44	chr8:95552000-95563600	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr8:95552200-95561000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr8:95552200-95561000	Weak transcription	Left Ventricle	heart
47	chr8:95552200-95561200	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr8:95552200-95562000	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr8:95552200-95563000	Weak transcription	Right Ventricle	heart
50	chr8:95552200-95563600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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