Variant report

Variant	rs2508181
Chromosome Location	chr11:77498902-77498903
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:77496983..77499630-chr11:77529279..77531478,2	MCF-7	breast:
2	chr11:77475921..77478219-chr11:77498193..77500876,2	MCF-7	breast:
3	chr11:77492951..77497210-chr11:77498499..77501439,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs11600998	0.81[EUR][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	nsv1049603	chr11:76900813-77520411	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv541090	chr11:76900813-77520411	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1050891	chr11:77416645-77788002	Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1037292	chr11:77431583-77745934	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv541092	chr11:77431583-77745934	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv949316	chr11:77454076-77769885	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2508181	INTS4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77442800-77500200	Weak transcription	Pancreas	Pancrea
2	chr11:77443200-77500200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr11:77462200-77500200	Weak transcription	Gastric	stomach
4	chr11:77463800-77527000	Weak transcription	Aorta	Aorta
5	chr11:77465200-77500200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:77467000-77500200	Weak transcription	Esophagus	oesophagus
7	chr11:77475200-77501600	Weak transcription	Brain Germinal Matrix	brain
8	chr11:77475200-77502600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr11:77475200-77527800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr11:77475400-77500400	Weak transcription	Lung	lung
11	chr11:77475400-77500600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr11:77475400-77501800	Weak transcription	Thymus	Thymus
13	chr11:77475400-77502400	Weak transcription	Fetal Muscle Leg	muscle
14	chr11:77475400-77504200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr11:77475400-77522000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr11:77475400-77529000	Weak transcription	NHLF	lung
17	chr11:77475400-77530000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr11:77475600-77500200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr11:77475600-77511600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr11:77475600-77511600	Weak transcription	Stomach Smooth Muscle	stomach
21	chr11:77475800-77510400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr11:77475800-77522000	Weak transcription	Hela-S3	cervix
23	chr11:77482600-77500200	Weak transcription	Right Ventricle	heart
24	chr11:77482600-77509800	Weak transcription	Adipose Nuclei	Adipose
25	chr11:77482800-77501800	Weak transcription	Duodenum Mucosa	Duodenum
26	chr11:77482800-77525800	Weak transcription	Fetal Lung	lung
27	chr11:77483800-77499000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr11:77486600-77500000	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr11:77487000-77499600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr11:77487200-77500200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr11:77487200-77500200	Weak transcription	Fetal Stomach	stomach
32	chr11:77487200-77500200	Weak transcription	Ovary	ovary
33	chr11:77487200-77500400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:77487200-77500400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr11:77487200-77501600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr11:77487200-77503200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr11:77487400-77503000	Weak transcription	Dnd41	blood
38	chr11:77487400-77522000	Weak transcription	Placenta	Placenta
39	chr11:77489800-77503400	Weak transcription	A549	lung
40	chr11:77489800-77511600	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr11:77490200-77499800	Weak transcription	Right Atrium	heart
42	chr11:77490400-77500200	Weak transcription	Left Ventricle	heart
43	chr11:77491000-77500200	Weak transcription	K562	blood
44	chr11:77491200-77499800	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr11:77491400-77517600	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr11:77493600-77500400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr11:77493600-77501800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr11:77494600-77503000	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr11:77495000-77500200	Weak transcription	Fetal Intestine Small	intestine
50	chr11:77495800-77528200	Weak transcription	Brain Cingulate Gyrus	brain

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