Variant report

Variant	nsv897021
Chromosome Location	chr11:17478157-17491386
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:17478295..17480154-chr11:17482165..17484728,2	K562	blood:
2	chr11:17475103..17476631-chr11:17480945..17482872,2	K562	blood:
3	chr11:17476190..17478862-chr11:17505917..17508222,2	K562	blood:
4	chr11:17447052..17448727-chr11:17486518..17488813,2	K562	blood:
5	chr11:17462780..17465155-chr11:17480733..17482429,2	K562	blood:
6	chr11:17490196..17492539-chr11:17495004..17496625,2	K562	blood:
7	chr11:17478295..17480154-chr11:17482165..17484728,2	K562	blood:
8	chr11:17474460..17476644-chr11:17478483..17480619,2	K562	blood:
9	chr11:17417635..17419450-chr11:17475960..17478290,2	MCF-7	breast:
10	chr11:17372929..17375866-chr11:17489485..17491410,2	K562	blood:
11	chr11:17484097..17487260-chr11:17487485..17491025,3	MCF-7	breast:
12	chr11:17483603..17486508-chr11:17496196..17498244,2	MCF-7	breast:
13	chr11:17476148..17478074-chr11:17479961..17481656,2	MCF-7	breast:
14	chr11:17484097..17487260-chr11:17487485..17491025,3	MCF-7	breast:
15	chr11:17475034..17476631-chr11:17480945..17483490,2	K562	blood:
16	chr11:17484409..17485269-chr19:13049273..13049928,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000188211	chromatin interactions
ENSG00000006071	chromatin interactions
ENSG00000179218	chromatin interactions

Extended variants
information (count: 594 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:594 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2237974	chr11:17478157-17478158	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs554964035	chr11:17478161-17478162	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs573524439	chr11:17478163-17478164	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs11822987	chr11:17478194-17478195	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs569841947	chr11:17478195-17478196	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs11823017	chr11:17478204-17478205	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs532727097	chr11:17478242-17478243	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs544341718	chr11:17478265-17478266	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs192632341	chr11:17478269-17478270	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs529717532	chr11:17478317-17478318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548216463	chr11:17478341-17478342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566335169	chr11:17478359-17478360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs527617590	chr11:17478387-17478388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376673213	chr11:17478459-17478460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs79084230	chr11:17478460-17478461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs570333648	chr11:17478559-17478560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs144020836	chr11:17478565-17478566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs183679069	chr11:17478610-17478611	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs35502008	chr11:17478632-17478633	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs189518480	chr11:17478659-17478660	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs567586727	chr11:17478662-17478663	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs557043936	chr11:17478707-17478708	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs80137478	chr11:17478761-17478762	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs114001401	chr11:17478783-17478784	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs61019394	chr11:17478790-17478791	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs559476767	chr11:17478798-17478799	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs147304614	chr11:17478799-17478800	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs540945578	chr11:17478816-17478817	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs377623764	chr11:17478822-17478823	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs79253807	chr11:17478832-17478833	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs192380754	chr11:17478833-17478834	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs137976553	chr11:17478838-17478839	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs143533973	chr11:17478886-17478887	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs529855490	chr11:17478900-17478901	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs184542548	chr11:17478912-17478913	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs560122161	chr11:17478914-17478915	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs369652871	chr11:17478969-17478970	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs7111475	chr11:17478989-17478990	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs552459044	chr11:17478996-17478997	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs563996442	chr11:17479016-17479017	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs150497177	chr11:17479027-17479028	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs549609846	chr11:17479046-17479047	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs567902656	chr11:17479088-17479089	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs536783598	chr11:17479090-17479091	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs553438774	chr11:17479095-17479096	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs190228414	chr11:17479110-17479111	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs566876278	chr11:17479147-17479148	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs578190522	chr11:17479202-17479203	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561620304	chr11:17479231-17479232	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539477245	chr11:17479232-17479233	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
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
small cell lung cancer	20016488	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Lung adenocarcinoma	17086460	CNVD
Urothelial cell carcinoma	18451213	CNVD
Lung cancer	17086460	CNVD
Uterine serous papillary cancer	19536090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Usher syndrome	20538994	CNVD
Usher type I cohort	21436283	CNVD

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17461200-17497400	Weak transcription	Gastric	stomach
2	chr11:17465800-17481600	Weak transcription	Fetal Brain Female	brain
3	chr11:17465800-17496400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr11:17467400-17478600	Weak transcription	Dnd41	blood
5	chr11:17470200-17482000	Weak transcription	Brain Germinal Matrix	brain
6	chr11:17472400-17489600	Weak transcription	Brain Substantia Nigra	brain
7	chr11:17473600-17478200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr11:17473800-17478800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr11:17474000-17482200	Weak transcription	Brain Angular Gyrus	brain
10	chr11:17474000-17485000	Weak transcription	Lung	lung
11	chr11:17474400-17479000	Weak transcription	Fetal Muscle Leg	muscle
12	chr11:17474400-17481800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr11:17474600-17481800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr11:17474800-17481800	Weak transcription	Brain Anterior Caudate	brain
15	chr11:17474800-17481800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr11:17476200-17479000	Weak transcription	Fetal Muscle Trunk	muscle
17	chr11:17476400-17480600	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr11:17478400-17480400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr11:17478600-17479200	Bivalent Enhancer	Adipose Nuclei	Adipose
20	chr11:17478600-17479800	Enhancers	Fetal Brain Male	brain
21	chr11:17478600-17480000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr11:17478600-17480000	Enhancers	Dnd41	blood
23	chr11:17478800-17479600	Enhancers	H9 Cell Line	embryonic stem cell
24	chr11:17478800-17479800	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr11:17478800-17480000	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr11:17478800-17480200	Enhancers	H1 Cell Line	embryonic stem cell
27	chr11:17478800-17480200	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr11:17478800-17480200	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr11:17478800-17480200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr11:17478800-17480400	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr11:17479000-17479600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr11:17479000-17479600	Enhancers	Fetal Thymus	thymus
33	chr11:17479000-17479800	Enhancers	Fetal Muscle Leg	muscle
34	chr11:17479000-17480000	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr11:17479000-17480200	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr11:17479000-17480200	Enhancers	Primary hematopoietic stem cells	blood
37	chr11:17479000-17480200	Enhancers	Fetal Muscle Trunk	muscle
38	chr11:17479000-17481400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr11:17479200-17479600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr11:17479200-17479600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr11:17479200-17479800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr11:17479200-17479800	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr11:17479200-17480200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr11:17479200-17482200	Enhancers	Adipose Nuclei	Adipose
45	chr11:17479400-17479600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr11:17479600-17480000	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr11:17479600-17480000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr11:17479600-17480000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr11:17479600-17480000	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr11:17479800-17480800	Weak transcription	Fetal Muscle Leg	muscle

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