Variant report

Variant	esv3372624
Chromosome Location	chr11:8848476-8852774
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:8850578..8853466-chr11:8861792..8863459,2	K562	blood:
2	chr11:8701773..8703653-chr11:8846645..8848951,2	MCF-7	breast:
3	chr11:8847275..8850671-chr11:8853327..8856938,3	K562	blood:
4	chr11:8847441..8849119-chr11:9018204..9019722,2	K562	blood:
5	chr11:8851075..8853440-chr11:8856276..8857921,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRIM66-7	chr11:8852248-8852421	NONHSAT017887

Variant related genes	Relation type
ENSG00000166444	chromatin interactions

Extended variants
information (count: 177 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:177 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565973630	chr11:8848496-8848497	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs146035313	chr11:8848517-8848518	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs7127564	chr11:8848520-8848521	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs190318785	chr11:8848522-8848523	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs560853268	chr11:8848559-8848560	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs181920197	chr11:8848576-8848577	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs556798411	chr11:8848611-8848612	Enhancers Flanking Active TSS Genic enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs75133073	chr11:8848680-8848681	Enhancers Flanking Active TSS Genic enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs539054504	chr11:8848696-8848697	Enhancers Flanking Active TSS Genic enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs7943377	chr11:8848700-8848701	Enhancers Flanking Active TSS Genic enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs573198149	chr11:8848774-8848775	Enhancers Flanking Active TSS Genic enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs35503692	chr11:8848785-8848786	Enhancers Flanking Active TSS Genic enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs139957527	chr11:8848791-8848792	Enhancers Flanking Active TSS Genic enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs575770476	chr11:8848838-8848839	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs544648330	chr11:8848846-8848847	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs564433243	chr11:8848852-8848853	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs142209557	chr11:8848870-8848871	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs150781177	chr11:8848880-8848881	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs560502169	chr11:8848885-8848886	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs528382450	chr11:8848963-8848964	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs548516579	chr11:8848985-8848986	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs139143527	chr11:8849031-8849032	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs79204974	chr11:8849076-8849077	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs550607668	chr11:8849083-8849084	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs575616587	chr11:8849195-8849196	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs187425338	chr11:8849207-8849208	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs538093964	chr11:8849223-8849224	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs149917846	chr11:8849231-8849232	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs147577250	chr11:8849237-8849238	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs572521410	chr11:8849321-8849322	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs535719757	chr11:8849337-8849338	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs555790498	chr11:8849355-8849356	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs575754870	chr11:8849361-8849362	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs577732870	chr11:8849362-8849363	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs546315984	chr11:8849381-8849382	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs140310708	chr11:8849442-8849443	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs116357245	chr11:8849452-8849453	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs2568090	chr11:8849495-8849496	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs560481286	chr11:8849526-8849527	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs529325259	chr11:8849605-8849606	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs542059871	chr11:8849617-8849618	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs561842446	chr11:8849664-8849665	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs191190326	chr11:8849707-8849708	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs550498127	chr11:8849726-8849727	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs377598501	chr11:8849747-8849748	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs570340020	chr11:8849760-8849761	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs144170297	chr11:8849761-8849762	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs546201360	chr11:8849769-8849770	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs546312412	chr11:8849797-8849798	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs147765406	chr11:8849814-8849815	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Dysmorphic features	22052655	CNVD
Intellectual disability	22052655	CNVD
Obesity	22052655	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21785460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:273 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8833200-8859800	Weak transcription	Aorta	Aorta
2	chr11:8835600-8848800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr11:8836400-8849800	Weak transcription	Fetal Intestine Small	intestine
4	chr11:8836600-8850400	Weak transcription	Fetal Lung	lung
5	chr11:8836800-8848600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:8837000-8850000	Weak transcription	Lung	lung
7	chr11:8837200-8848600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:8839000-8849400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr11:8839200-8849600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr11:8845200-8854200	Weak transcription	Psoas Muscle	Psoas
11	chr11:8845800-8860000	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr11:8846600-8854400	Weak transcription	Fetal Intestine Large	intestine
13	chr11:8846800-8849000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:8847000-8849200	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr11:8847000-8849400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr11:8847000-8852800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr11:8847200-8849000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr11:8847200-8849000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr11:8847200-8849200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr11:8847200-8849200	Enhancers	NHDF-Ad	bronchial
21	chr11:8847200-8849400	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr11:8847200-8849400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr11:8847200-8849400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:8847200-8849800	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr11:8847200-8849800	Enhancers	NHLF	lung
26	chr11:8847400-8849200	Enhancers	Fetal Heart	heart
27	chr11:8847400-8849200	Enhancers	HepG2	liver
28	chr11:8847400-8850400	Enhancers	K562	blood
29	chr11:8847600-8848600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr11:8847600-8848800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr11:8847600-8849000	Enhancers	Fetal Muscle Leg	muscle
32	chr11:8847600-8849000	Enhancers	A549	lung
33	chr11:8847600-8849000	Enhancers	HUVEC	blood vessel
34	chr11:8847600-8849200	Enhancers	Placenta Amnion	Placenta Amnion
35	chr11:8847600-8849400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr11:8847600-8849600	Enhancers	Placenta	Placenta
37	chr11:8847600-8850400	Enhancers	Ovary	ovary
38	chr11:8847600-8852600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr11:8847800-8848600	Enhancers	Brain Hippocampus Middle	brain
40	chr11:8847800-8848600	Enhancers	Fetal Stomach	stomach
41	chr11:8847800-8848800	Enhancers	HMEC	breast
42	chr11:8847800-8849000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr11:8847800-8849000	Enhancers	Stomach Mucosa	stomach
44	chr11:8847800-8849000	Enhancers	Hela-S3	cervix
45	chr11:8847800-8849200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:8848000-8848800	Weak transcription	Fetal Muscle Trunk	muscle
47	chr11:8848000-8849000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr11:8848000-8849000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr11:8848000-8849000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr11:8848000-8849200	Enhancers	H9 Cell Line	embryonic stem cell

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