Variant report

Variant	rs12545493
Chromosome Location	chr8:124109033-124109034
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr8:124108364-124109045	T-47D	breast:	n/a	n/a
2	GATA3	chr8:124108524-124109037	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:124107106..124109057-chr8:124110948..124112653,2	K562	blood:
2	chr8:124085491..124088248-chr8:124107597..124109815,2	K562	blood:

Variant related genes	Relation type
TBC1D31	TF binding region
ENSG00000156787	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10101626	0.92[EUR][1000 genomes]
rs10505429	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10808525	0.82[ASN][1000 genomes]
rs10956115	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956118	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12546649	0.82[ASN][1000 genomes]
rs12547393	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12675780	0.82[ASN][1000 genomes]
rs17314930	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2272723	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2385165	0.81[ASN][1000 genomes]
rs56673420	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62521779	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7004974	0.92[EUR][1000 genomes]
rs7006638	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7006862	0.92[EUR][1000 genomes]
rs73713923	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7844632	0.92[EUR][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	nsv1032827	chr8:123668081-124270400	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv529364	chr8:123763846-124373809	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv429939	chr8:124027819-124180819	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1028933	chr8:124065484-124181718	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	nsv1015490	chr8:124103255-124150990	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1015249	chr8:124103504-124373949	Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv539741	chr8:124103504-124373949	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124085800-124118800	Weak transcription	Small Intestine	intestine
2	chr8:124086000-124109600	Weak transcription	HMEC	breast
3	chr8:124086000-124111200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr8:124086000-124112400	Weak transcription	NH-A	brain
5	chr8:124086000-124113400	Weak transcription	Brain Angular Gyrus	brain
6	chr8:124086000-124115600	Weak transcription	Right Ventricle	heart
7	chr8:124086000-124115800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:124086000-124116200	Weak transcription	Brain Substantia Nigra	brain
9	chr8:124086000-124116600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr8:124086000-124117200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr8:124086000-124117200	Weak transcription	HSMMtube	muscle
12	chr8:124086000-124146400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr8:124086000-124154600	Weak transcription	Aorta	Aorta
14	chr8:124086000-124158400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:124086000-124168800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr8:124086000-124169000	Weak transcription	Colon Smooth Muscle	Colon
17	chr8:124086200-124115800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr8:124086200-124122000	Weak transcription	Spleen	Spleen
19	chr8:124086200-124142200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr8:124086200-124146400	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr8:124086200-124168800	Weak transcription	Esophagus	oesophagus
22	chr8:124086400-124112000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr8:124086600-124145200	Weak transcription	Fetal Brain Male	brain
24	chr8:124086600-124168800	Weak transcription	Lung	lung
25	chr8:124086800-124114000	Weak transcription	Psoas Muscle	Psoas
26	chr8:124087000-124110200	Weak transcription	Brain Germinal Matrix	brain
27	chr8:124087200-124112400	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr8:124087200-124143800	Weak transcription	Fetal Kidney	kidney
29	chr8:124088600-124115800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr8:124089400-124116400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:124094200-124111200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr8:124095600-124111600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr8:124095600-124118000	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr8:124095800-124142800	Weak transcription	Fetal Intestine Small	intestine
35	chr8:124096200-124112800	Weak transcription	HSMM	muscle
36	chr8:124096200-124168800	Weak transcription	Liver	Liver
37	chr8:124096400-124118000	Weak transcription	Brain Anterior Caudate	brain
38	chr8:124096600-124110000	Weak transcription	Duodenum Mucosa	Duodenum
39	chr8:124096600-124111600	Weak transcription	Fetal Brain Female	brain
40	chr8:124096600-124114000	Weak transcription	Fetal Lung	lung
41	chr8:124096600-124115800	Weak transcription	NHLF	lung
42	chr8:124096800-124110000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr8:124096800-124111000	Weak transcription	Fetal Intestine Large	intestine
44	chr8:124096800-124113200	Weak transcription	Adipose Nuclei	Adipose
45	chr8:124096800-124113400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr8:124097000-124109400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr8:124097000-124110800	Weak transcription	A549	lung
48	chr8:124097000-124112800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr8:124097400-124133400	Weak transcription	Left Ventricle	heart
50	chr8:124097400-124166800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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