Variant report

Variant	rs1046615
Chromosome Location	chr11:18300954-18300955
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:18300718..18302528-chr11:18350970..18352624,2	MCF-7	breast:
2	chr11:18299832..18302596-chr11:18415012..18417515,2	K562	blood:

Variant related genes	Relation type
ENSG00000134333	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs10766469	0.95[JPT][hapmap]
rs10832920	0.83[JPT][hapmap]
rs11024603	0.95[CHB][hapmap];0.93[CHD][hapmap];0.80[JPT][hapmap];0.82[ASN][1000 genomes]
rs11024613	0.90[JPT][hapmap]
rs2305564	0.90[JPT][hapmap]
rs2403254	0.81[CHD][hapmap];0.90[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv428569	chr11:18194030-18350869	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv933836	chr11:18300254-18440933	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1046615	TSG101	cis	parietal	SCAN
rs1046615	SAA4	cis	cerebellum	SCAN
rs1046615	SERGEF	cis	parietal	SCAN
rs1046615	TSG101	cis	lymphoblastoid	seeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18283600-18301600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:18285200-18303200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr11:18285600-18308400	Weak transcription	Gastric	stomach
4	chr11:18287400-18303000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr11:18287600-18303000	Weak transcription	Spleen	Spleen
6	chr11:18287600-18334000	Weak transcription	Right Atrium	heart
7	chr11:18287800-18301000	Weak transcription	HSMM	muscle
8	chr11:18290000-18303200	Weak transcription	NHEK	skin
9	chr11:18290000-18303400	Weak transcription	Small Intestine	intestine
10	chr11:18290200-18301200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr11:18291400-18303200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr11:18291600-18301000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr11:18291800-18303200	Weak transcription	Brain Angular Gyrus	brain
14	chr11:18291800-18307800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr11:18291800-18314400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:18292000-18303200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr11:18292000-18303600	Weak transcription	Brain Germinal Matrix	brain
18	chr11:18292000-18308400	Weak transcription	Right Ventricle	heart
19	chr11:18292000-18314800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr11:18292400-18303200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr11:18292400-18303200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr11:18293800-18303800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr11:18293800-18304200	Weak transcription	Brain Substantia Nigra	brain
24	chr11:18293800-18306200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr11:18294000-18301000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr11:18294200-18303000	Weak transcription	Lung	lung
27	chr11:18294200-18303200	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr11:18294400-18301000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr11:18294600-18301000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr11:18294600-18302200	Weak transcription	Brain Hippocampus Middle	brain
31	chr11:18295000-18301000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr11:18295200-18308000	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr11:18295400-18303200	Weak transcription	Fetal Kidney	kidney
34	chr11:18295600-18302800	Weak transcription	Thymus	Thymus
35	chr11:18295800-18307800	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr11:18296000-18302600	Weak transcription	Fetal Intestine Small	intestine
37	chr11:18296000-18303200	Weak transcription	Pancreas	Pancrea
38	chr11:18296200-18303000	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr11:18296400-18303400	Weak transcription	K562	blood
40	chr11:18296800-18315400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr11:18297000-18307200	Weak transcription	Fetal Brain Male	brain
42	chr11:18297400-18328400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr11:18297800-18303400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr11:18298000-18303400	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr11:18298200-18303200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr11:18298200-18303200	Weak transcription	Psoas Muscle	Psoas
47	chr11:18298200-18303400	Weak transcription	Aorta	Aorta
48	chr11:18298200-18306600	Strong transcription	H1 Cell Line	embryonic stem cell
49	chr11:18298200-18333800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:18298400-18301800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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