Variant report

Variant	rs11615000
Chromosome Location	chr12:63141636-63141637
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10877912	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11615849	0.81[GIH][hapmap]
rs17098259	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4763194	0.81[JPT][hapmap];0.88[TSI][hapmap];0.84[EUR][1000 genomes]
rs7297618	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7961151	0.80[JPT][hapmap]

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	esv1802580	chr12:63139188-63157591	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11615000	XRCC6BP1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63096600-63157000	Weak transcription	Pancreas	Pancrea
2	chr12:63123000-63152000	Weak transcription	Gastric	stomach
3	chr12:63124200-63145400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:63125800-63143000	Weak transcription	Psoas Muscle	Psoas
5	chr12:63126000-63149200	Weak transcription	Lung	lung
6	chr12:63126200-63155600	Weak transcription	Aorta	Aorta
7	chr12:63130200-63153200	Weak transcription	Fetal Intestine Large	intestine
8	chr12:63131400-63148000	Weak transcription	Fetal Intestine Small	intestine
9	chr12:63132600-63145400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr12:63133600-63144800	Weak transcription	Brain Anterior Caudate	brain
11	chr12:63133800-63143000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:63134200-63145000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr12:63134200-63150600	Weak transcription	Right Atrium	heart
14	chr12:63134400-63144600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr12:63134400-63160600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr12:63135000-63142200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:63135600-63145000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:63136000-63142600	Weak transcription	Brain Angular Gyrus	brain
19	chr12:63136000-63145000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr12:63136400-63144600	Weak transcription	Brain Substantia Nigra	brain
21	chr12:63138600-63141800	Strong transcription	HepG2	liver
22	chr12:63138800-63142400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr12:63138800-63149200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr12:63139000-63144600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr12:63139000-63144800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr12:63139400-63141800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr12:63139400-63150400	Weak transcription	Left Ventricle	heart
28	chr12:63139600-63142200	Weak transcription	Osteobl	bone
29	chr12:63139600-63142400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr12:63139600-63142600	Weak transcription	HSMMtube	muscle
31	chr12:63139600-63143000	Weak transcription	Brain Hippocampus Middle	brain
32	chr12:63139800-63142200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr12:63139800-63142400	Weak transcription	HSMM	muscle
34	chr12:63139800-63142600	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr12:63139800-63143000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr12:63139800-63148400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr12:63140000-63149200	Weak transcription	Primary hematopoietic stem cells	blood
38	chr12:63140000-63150800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr12:63140000-63168600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr12:63140400-63142400	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr12:63140600-63142400	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr12:63140600-63145000	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr12:63140800-63145600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr12:63141000-63142200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr12:63141600-63142000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr12:63141600-63142000	Weak transcription	A549	lung

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