Variant report

Variant	rs2511478
Chromosome Location	chr11:67918617-67918618
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:67911476..67914180-chr11:67917958..67920100,2	K562	blood:
2	chr11:67886191..67891456-chr11:67912777..67920506,13	MCF-7	breast:
3	chr11:67917026..67920004-chr11:67922053..67923797,2	MCF-7	breast:
4	chr11:67886815..67888906-chr11:67917697..67919399,3	MCF-7	breast:
5	chr11:67918367..67921789-chr11:67921948..67924337,4	K562	blood:
6	chr11:67911074..67916286-chr11:67916332..67921436,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110721	Chromatin interaction
ENSG00000255236	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10896298	0.80[ASN][1000 genomes]
rs11228129	0.85[EUR][1000 genomes]
rs11228131	0.83[EUR][1000 genomes]
rs11228137	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11228144	0.82[ASN][1000 genomes]
rs11228145	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11824199	0.83[EUR][1000 genomes]
rs2511437	0.85[EUR][1000 genomes]
rs2511467	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2511468	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2511469	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2511470	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2511472	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2511473	0.88[ASN][1000 genomes]
rs2511475	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2511479	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2512623	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2512624	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3133327	0.85[EUR][1000 genomes]
rs4930228	0.86[ASN][1000 genomes]
rs4930561	0.80[ASN][1000 genomes]
rs6591331	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7124058	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427892	chr11:67451649-67926562	Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
2	nsv825963	chr11:67763676-68197054	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2511478	SUV420H1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67910000-67921200	Weak transcription	Primary B cells from cord blood	blood
2	chr11:67910800-67922600	Weak transcription	Fetal Thymus	thymus
3	chr11:67913200-67933200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr11:67914400-67922000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr11:67914400-67925000	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr11:67914600-67925400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:67914600-67930200	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr11:67914800-67922600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr11:67914800-67923000	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr11:67914800-67924800	Weak transcription	Brain Angular Gyrus	brain
11	chr11:67914800-67924800	Weak transcription	NHDF-Ad	bronchial
12	chr11:67914800-67925400	Weak transcription	Colon Smooth Muscle	Colon
13	chr11:67914800-67925400	Weak transcription	Spleen	Spleen
14	chr11:67914800-67925400	Weak transcription	HSMMtube	muscle
15	chr11:67914800-67925600	Weak transcription	NH-A	brain
16	chr11:67914800-67925800	Weak transcription	Esophagus	oesophagus
17	chr11:67914800-67925800	Weak transcription	Psoas Muscle	Psoas
18	chr11:67915000-67919000	Enhancers	HepG2	liver
19	chr11:67915000-67921400	Weak transcription	Fetal Stomach	stomach
20	chr11:67915000-67922000	Enhancers	Stomach Mucosa	stomach
21	chr11:67915000-67922200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr11:67915000-67922600	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr11:67915000-67922600	Weak transcription	Left Ventricle	heart
24	chr11:67915000-67922600	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr11:67915000-67924800	Weak transcription	Brain Substantia Nigra	brain
26	chr11:67915000-67925200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr11:67915000-67925200	Weak transcription	Brain Anterior Caudate	brain
28	chr11:67915000-67925200	Weak transcription	HSMM	muscle
29	chr11:67915000-67925600	Weak transcription	Lung	lung
30	chr11:67915000-67925600	Weak transcription	Rectal Smooth Muscle	rectum
31	chr11:67915000-67925600	Weak transcription	Right Ventricle	heart
32	chr11:67915000-67925800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr11:67915000-67925800	Weak transcription	Gastric	stomach
34	chr11:67915000-67928000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr11:67915000-67933000	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr11:67915000-67934000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr11:67915000-67943000	Weak transcription	Right Atrium	heart
38	chr11:67915000-67973800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr11:67915200-67919200	Weak transcription	Fetal Muscle Trunk	muscle
40	chr11:67915200-67924200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr11:67915200-67924800	Weak transcription	Brain Hippocampus Middle	brain
42	chr11:67915200-67925200	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr11:67915200-67925400	Weak transcription	Brain Cingulate Gyrus	brain
44	chr11:67915200-67925600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr11:67915200-67929000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr11:67915400-67927000	Weak transcription	Fetal Heart	heart
47	chr11:67917200-67920000	Enhancers	Pancreas	Pancrea
48	chr11:67917200-67920400	Weak transcription	Colonic Mucosa	Colon
49	chr11:67917200-67925600	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr11:67917200-67939400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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