Variant report

Variant	rs11600598
Chromosome Location	chr11:76583239-76583240
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:76571845..76574548-chr11:76582598..76584984,4	K562	blood:
2	chr11:76571598..76573230-chr11:76583210..76585828,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000078124	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11236954	0.83[EUR][1000 genomes]
rs11236960	0.83[EUR][1000 genomes]
rs11236961	0.83[EUR][1000 genomes]
rs11600737	0.83[EUR][1000 genomes]
rs11600914	0.91[EUR][1000 genomes]
rs11603154	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11607420	0.83[EUR][1000 genomes]
rs11608202	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12278208	0.83[EUR][1000 genomes]
rs12278844	0.83[EUR][1000 genomes]
rs1440976	0.83[EUR][1000 genomes]
rs56048519	0.83[EUR][1000 genomes]
rs57918050	0.87[EUR][1000 genomes]
rs6592669	0.83[EUR][1000 genomes]
rs6592670	0.83[EUR][1000 genomes]
rs7106688	0.83[EUR][1000 genomes]
rs7122943	0.83[EUR][1000 genomes]
rs7128590	0.83[EUR][1000 genomes]
rs7930972	0.83[EUR][1000 genomes]
rs7932943	0.83[EUR][1000 genomes]
rs7942487	0.83[EUR][1000 genomes]
rs7948381	0.83[EUR][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	nsv518920	chr11:76573016-76637651	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76572800-76596400	Weak transcription	Small Intestine	intestine
2	chr11:76573000-76583600	Weak transcription	Esophagus	oesophagus
3	chr11:76573200-76583600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr11:76573200-76591600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr11:76573200-76596600	Weak transcription	Right Ventricle	heart
6	chr11:76573200-76600400	Weak transcription	Primary T cells from cord blood	blood
7	chr11:76573200-76601400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr11:76573400-76591400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr11:76573600-76587600	Weak transcription	Hela-S3	cervix
10	chr11:76573600-76588600	Weak transcription	HUVEC	blood vessel
11	chr11:76573600-76591000	Weak transcription	NHDF-Ad	bronchial
12	chr11:76573600-76591400	Weak transcription	Left Ventricle	heart
13	chr11:76573800-76591000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr11:76574200-76599800	Weak transcription	Duodenum Mucosa	Duodenum
15	chr11:76574600-76583600	Weak transcription	K562	blood
16	chr11:76575400-76588400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr11:76579400-76583400	Weak transcription	Primary hematopoietic stem cells	blood
18	chr11:76579400-76595400	Weak transcription	HMEC	breast
19	chr11:76580000-76587200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr11:76580000-76594800	Weak transcription	NHEK	skin
21	chr11:76580000-76596800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr11:76580200-76584400	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr11:76580200-76585200	Weak transcription	Aorta	Aorta
24	chr11:76580200-76587200	Weak transcription	Brain Hippocampus Middle	brain
25	chr11:76580200-76591400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr11:76580200-76595000	Weak transcription	Brain Angular Gyrus	brain
27	chr11:76580200-76596400	Weak transcription	Lung	lung
28	chr11:76580400-76587200	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr11:76580400-76587800	Weak transcription	GM12878-XiMat	blood
30	chr11:76580400-76588200	Weak transcription	Brain Substantia Nigra	brain
31	chr11:76580400-76596600	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr11:76580600-76588200	Weak transcription	Brain Cingulate Gyrus	brain
33	chr11:76580600-76591200	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr11:76580600-76591200	Weak transcription	Adipose Nuclei	Adipose
35	chr11:76580800-76596400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr11:76581000-76584400	Weak transcription	Fetal Brain Female	brain
37	chr11:76581000-76585600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr11:76581000-76591200	Weak transcription	Brain Germinal Matrix	brain
39	chr11:76581000-76602200	Weak transcription	Primary B cells from cord blood	blood
40	chr11:76581200-76590600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr11:76581200-76595000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr11:76581200-76613400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr11:76581400-76583600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr11:76581400-76585200	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr11:76581400-76587400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr11:76581400-76590400	Weak transcription	Brain Anterior Caudate	brain
47	chr11:76581400-76591400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr11:76581400-76591400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr11:76581400-76591400	Weak transcription	Placenta	Placenta
50	chr11:76581600-76588600	Weak transcription	Rectal Mucosa Donor 29	rectum

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