Variant report

Variant	rs7134797
Chromosome Location	chr12:58263852-58263853
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:58236905..58239639-chr12:58262995..58265334,2	MCF-7	breast:
2	chr12:58263220..58265697-chr12:58267333..58269634,2	MCF-7	breast:
3	chr12:58237087..58244044-chr12:58260690..58267738,8	K562	blood:
4	chr12:58258786..58263861-chr12:58273729..58277386,6	MCF-7	breast:
5	chr12:58238079..58239938-chr12:58262220..58264742,2	K562	blood:
6	chr12:58262380..58265069-chr12:58266414..58270393,4	K562	blood:
7	chr12:58259629..58265686-chr12:58266089..58272179,8	K562	blood:
8	chr12:58262266..58264852-chr12:58270449..58272179,2	K562	blood:
9	chr12:58255940..58258991-chr12:58263646..58265441,3	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTDSP2-1	chr12:58263618-58264164	ENSG00000245651
2	lnc-CTDSP2-1	chr12:58263619-58264164	ENSG00000245651
3	lnc-CTDSP2-1	chr12:58263619-58264164	XLOC_010101
4	lnc-CTDSP2-1	chr12:58263618-58264164	ENSG00000245651

No data

Variant related genes	Relation type
ENSG00000175215	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10444569	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10747784	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10747786	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10747787	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10783850	0.81[AMR][1000 genomes]
rs10783851	0.81[AMR][1000 genomes]
rs10783854	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10783855	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10783856	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10877024	0.81[AMR][1000 genomes]
rs10877025	0.81[AMR][1000 genomes]
rs10877026	0.82[AMR][1000 genomes]
rs10877029	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10877030	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10877031	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10877032	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11172367	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11172368	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11172369	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11172371	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12312955	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12319233	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12426201	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1599750	0.82[AMR][1000 genomes]
rs1599751	0.82[AMR][1000 genomes]
rs1599931	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1875125	0.80[AMR][1000 genomes]
rs1962047	0.81[ASN][1000 genomes]
rs2002275	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3751331	0.81[ASN][1000 genomes]
rs4237844	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4760172	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4760339	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4760340	0.81[ASN][1000 genomes]
rs4760341	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs5017863	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59401446	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6581157	0.82[ASN][1000 genomes]
rs7312623	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7969844	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9645819	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv559046	chr12:58162085-58478598	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	261 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs7134797	XRCC6BP1	Cis_1M	lymphoblastoid	RTeQTL
rs7134797	XRCC6BP1	cis	Muscle Skeletal	GTEx
rs7134797	XRCC6BP1	cis	Whole Blood	GTEx
rs7134797	XRCC6BP1	cis	Artery Aorta	GTEx
rs7134797	XRCC6BP1	cis	Artery Tibial	GTEx
rs7134797	XRCC6BP1	cis	Adipose Subcutaneous	GTEx
rs7134797	XRCC6BP1	cis	lung	GTEx
rs7134797	XRCC6BP1	cis	Heart Left Ventricle	GTEx
rs7134797	XRCC6BP1	cis	Skin Sun Exposed Lower leg	GTEx
rs7134797	TSFM	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58256400-58264600	Weak transcription	Spleen	Spleen
2	chr12:58259400-58269600	Weak transcription	Aorta	Aorta
3	chr12:58259600-58264000	Enhancers	Placenta	Placenta
4	chr12:58259600-58267800	Weak transcription	Colonic Mucosa	Colon
5	chr12:58259600-58268000	Weak transcription	Left Ventricle	heart
6	chr12:58259800-58267600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr12:58261800-58264000	Enhancers	Brain Cingulate Gyrus	brain
8	chr12:58261800-58264400	Enhancers	Colon Smooth Muscle	Colon
9	chr12:58261800-58264400	Enhancers	Fetal Muscle Trunk	muscle
10	chr12:58261800-58264400	Enhancers	Fetal Stomach	stomach
11	chr12:58261800-58264600	Enhancers	Fetal Lung	lung
12	chr12:58261800-58265200	Enhancers	Fetal Brain Male	brain
13	chr12:58262000-58264000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr12:58262000-58264200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:58262000-58264200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr12:58262000-58264400	Enhancers	Brain Angular Gyrus	brain
17	chr12:58262000-58264600	Enhancers	Fetal Muscle Leg	muscle
18	chr12:58262200-58264000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:58262200-58264400	Enhancers	HSMMtube	muscle
20	chr12:58262400-58264200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr12:58262400-58269600	Weak transcription	Fetal Heart	heart
22	chr12:58262600-58264200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr12:58262600-58264200	Enhancers	Psoas Muscle	Psoas
24	chr12:58262800-58267000	Weak transcription	Right Atrium	heart
25	chr12:58262800-58267800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:58263000-58264200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr12:58263000-58264400	Enhancers	Brain Anterior Caudate	brain
28	chr12:58263000-58269800	Weak transcription	Lung	lung
29	chr12:58263200-58264200	Enhancers	Rectal Smooth Muscle	rectum
30	chr12:58263200-58271200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr12:58263400-58264400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr12:58263400-58264400	Enhancers	Brain Substantia Nigra	brain
33	chr12:58263400-58264600	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr12:58263400-58264600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr12:58263400-58264600	Enhancers	Brain Hippocampus Middle	brain
36	chr12:58263400-58264600	Enhancers	Fetal Brain Female	brain
37	chr12:58263400-58264600	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr12:58263400-58265000	Enhancers	Brain Germinal Matrix	brain
39	chr12:58263400-58267600	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr12:58263600-58264400	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr12:58263600-58264400	Enhancers	Stomach Smooth Muscle	stomach
42	chr12:58263600-58267600	Weak transcription	Adipose Nuclei	Adipose
43	chr12:58263600-58269600	Weak transcription	NHLF	lung
44	chr12:58263600-58275000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr12:58263800-58264000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
46	chr12:58263800-58269600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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