Variant report

Variant	rs4757674
Chromosome Location	chr11:18619119-18619120
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	chr11:18618133..18619654-chr11:18626232..18627753,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10128711	0.81[ASN][1000 genomes]
rs10500834	0.81[ASN][1000 genomes]
rs10832950	0.81[ASN][1000 genomes]
rs10832954	0.81[ASN][1000 genomes]
rs11024735	0.81[ASN][1000 genomes]
rs1550869	0.81[AMR][1000 genomes]
rs2896537	0.81[ASN][1000 genomes]
rs4757676	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv553633	chr11:18311701-19058451	Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv1042155	chr11:18435855-18697576	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
4	nsv1046886	chr11:18547568-18781448	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
5	nsv540956	chr11:18547568-18781448	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
6	esv2761651	chr11:18606832-18621409	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4757674	TSG101	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18611000-18628600	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr11:18611200-18628600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr11:18611200-18636400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:18611400-18627600	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr11:18611400-18635800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr11:18611600-18627200	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr11:18611600-18627200	Weak transcription	Brain Germinal Matrix	brain
8	chr11:18611600-18629200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr11:18611600-18629600	Weak transcription	Fetal Kidney	kidney
10	chr11:18611800-18621000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr11:18611800-18627200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr11:18611800-18636200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr11:18612000-18629600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr11:18612000-18630800	Weak transcription	Colonic Mucosa	Colon
15	chr11:18612000-18636200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr11:18612200-18629800	Weak transcription	HUVEC	blood vessel
17	chr11:18612400-18627600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr11:18612400-18631000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr11:18612400-18638400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:18612800-18628800	Weak transcription	Colon Smooth Muscle	Colon
21	chr11:18612800-18629600	Weak transcription	Stomach Mucosa	stomach
22	chr11:18612800-18630800	Weak transcription	HSMMtube	muscle
23	chr11:18613000-18619200	Weak transcription	Fetal Heart	heart
24	chr11:18613000-18628800	Weak transcription	K562	blood
25	chr11:18614200-18627400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr11:18614600-18631000	Weak transcription	HepG2	liver
27	chr11:18617200-18619400	Strong transcription	Fetal Lung	lung
28	chr11:18617400-18627400	Weak transcription	Hela-S3	cervix
29	chr11:18617600-18619200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr11:18617600-18620800	Weak transcription	Osteobl	bone
31	chr11:18617800-18619200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr11:18617800-18627000	Weak transcription	HMEC	breast
33	chr11:18617800-18628600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr11:18617800-18628800	Weak transcription	Duodenum Mucosa	Duodenum
35	chr11:18617800-18629200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr11:18617800-18630000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr11:18617800-18630000	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr11:18617800-18630200	Weak transcription	Brain Anterior Caudate	brain
39	chr11:18617800-18632200	Weak transcription	Brain Substantia Nigra	brain
40	chr11:18618000-18622600	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr11:18618000-18627400	Weak transcription	Aorta	Aorta
42	chr11:18618000-18627400	Weak transcription	Liver	Liver
43	chr11:18618000-18636400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr11:18618200-18620800	Weak transcription	Adipose Nuclei	Adipose
45	chr11:18618200-18621000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr11:18618200-18622400	Weak transcription	Left Ventricle	heart
47	chr11:18618200-18622600	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr11:18618200-18625200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr11:18618200-18627000	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr11:18618200-18628600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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