Variant report

Variant	nsv897222
Chromosome Location	chr11:35244044-35261374
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:19)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:7)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:35249750..35251832-chr11:35258171..35261119,2	K562	blood:
2	chr11:35251288..35252930-chr11:35253929..35256719,2	K562	blood:
3	chr11:34938207..34939863-chr11:35260000..35262264,2	K562	blood:
4	chr11:35252011..35252895-chr9:127020158..127020913,2	Hela-S3	cervix:
5	chr11:35256103..35261501-chr11:35384186..35388588,8	MCF-7	breast:
6	chr11:35249750..35251832-chr11:35258171..35261119,2	K562	blood:
7	chr11:35260075..35262709-chr11:35271623..35274355,2	K562	blood:
8	chr11:35121498..35123460-chr11:35254836..35257289,2	K562	blood:
9	chr11:35251288..35252930-chr11:35253929..35256719,2	K562	blood:
10	chr11:35253382..35256369-chr11:35263187..35265388,2	K562	blood:
11	chr11:34961886..34962391-chr11:35259545..35260066,2	MCF-7	breast:
12	chr11:35237824..35241219-chr11:35241266..35244323,3	K562	blood:
13	chr11:35258928..35261277-chr11:35264057..35266573,2	K562	blood:
14	chr11:35239197..35241222-chr11:35241984..35244543,2	MCF-7	breast:
15	chr11:35253589..35256594-chr11:35257104..35259626,3	MCF-7	breast:
16	chr11:35258018..35260931-chr11:35412299..35415204,2	MCF-7	breast:
17	chr11:35253382..35256689-chr11:35262779..35266276,3	K562	blood:
18	chr11:35241455..35243081-chr11:35243204..35244959,2	MCF-7	breast:
19	chr11:35253589..35256594-chr11:35257104..35259626,3	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC1A2-4	chr11:35254171-35254874	NONHSAT018787
2	lnc-SLC1A2-4	chr11:35254902-35256403	NONHSAT018787

No data

(count:7 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	CD44	hsa-miR-216a-5p	chr11:35253535-35253556
2	CD44	hsa-miR-373-3p	chr11:35253880-35253903
3	CD44	hsa-miR-520c-3p	chr11:35253896-35253903
4	CD44	hsa-miR-520c-3p	chr11:35253881-35253903
5	CD44	hsa-miR-328-3p	chr11:35251070-35251091
6	CD44	hsa-miR-708-5p	chr11:35252486-35252508
7	CD44	hsa-miR-373-3p	chr11:35253896-35253903

Variant related genes	Relation type
ENSG00000026508	chromatin interactions
ENSG00000119408	chromatin interactions

Extended variants
information (count: 660 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:660 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7116739	chr11:35244044-35244045	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs7116432	chr11:35244058-35244059	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs563304988	chr11:35244070-35244071	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs532073377	chr11:35244086-35244087	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs56157648	chr11:35244123-35244124	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs529898168	chr11:35244141-35244142	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs373679880	chr11:35244145-35244146	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs59351140	chr11:35244146-35244147	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs566204719	chr11:35244161-35244162	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs56221958	chr11:35244163-35244164	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs397959514	chr11:35244164-35244165	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs548530124	chr11:35244260-35244261	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs548547786	chr11:35244334-35244335	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs372521721	chr11:35244389-35244390	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs182054506	chr11:35244390-35244391	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs75879905	chr11:35244423-35244424	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs557015351	chr11:35244424-35244425	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs186960922	chr11:35244437-35244438	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs191397538	chr11:35244452-35244453	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs12804343	chr11:35244457-35244458	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs572199496	chr11:35244458-35244459	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs183720574	chr11:35244529-35244530	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs11607862	chr11:35244574-35244575	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs187852126	chr11:35244576-35244577	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs369085950	chr11:35244583-35244584	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563341665	chr11:35244595-35244596	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs11033031	chr11:35244643-35244644	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs552158372	chr11:35244646-35244647	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs151198583	chr11:35244725-35244726	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs528825332	chr11:35244740-35244741	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs11384802	chr11:35244745-35244746	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs371167973	chr11:35244764-35244765	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs548850677	chr11:35244777-35244778	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs568589339	chr11:35244844-35244845	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs530980776	chr11:35244846-35244847	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs550678549	chr11:35244868-35244869	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs10836343	chr11:35244887-35244888	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs572155148	chr11:35244933-35244934	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs111245909	chr11:35244934-35244935	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs140364084	chr11:35244966-35244967	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs35800173	chr11:35244968-35244969	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs372026102	chr11:35244979-35244980	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs35740489	chr11:35244989-35244990	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs115781370	chr11:35245006-35245007	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs190202470	chr11:35245009-35245010	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs182137549	chr11:35245045-35245046	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs145451052	chr11:35245064-35245065	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs574706124	chr11:35245127-35245128	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs16927116	chr11:35245165-35245166	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs557097897	chr11:35245168-35245169	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
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
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	21364760	CNVD
Aniridia syndrome	21572526	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Retinoblastoma	22278416	CNVD
Denys-drash syndrome	21085971	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
WAGR syndrome	16773131	CNVD
Disorders of sex development	22290220	CNVD
Aniridia syndrome	17204608	CNVD
Mental retardation	17204608	CNVD
WAGR syndrome	19617690	CNVD
genitourinary abnormalities	17204608	CNVD
Breast cancer	16397240	CNVD
Mental retardation	16773131	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Cancer	21183584	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
WAGR syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Denys-drash syndrome	19566914	CNVD
Familial wilms tumor	19566914	CNVD
Frasier syndrome	19566914	CNVD
Non-small cell lung cancer	21829676	CNVD
WAGR syndrome	20603712	CNVD
Autism	17322880	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21858162	CNVD
Cancer	20164920	CNVD
Breast cancer	16620391	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:580 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:35200600-35244800	Weak transcription	Fetal Brain Male	brain
2	chr11:35214600-35250600	Weak transcription	Fetal Intestine Large	intestine
3	chr11:35226200-35244800	Weak transcription	Brain Substantia Nigra	brain
4	chr11:35232200-35245400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr11:35232400-35245600	Genic enhancers	NHDF-Ad	bronchial
6	chr11:35233200-35244400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr11:35233400-35259600	Weak transcription	Liver	Liver
8	chr11:35234200-35247400	Weak transcription	Fetal Intestine Small	intestine
9	chr11:35235200-35249200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr11:35235800-35244200	Strong transcription	Fetal Muscle Leg	muscle
11	chr11:35236000-35245200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr11:35236000-35247600	Strong transcription	Dnd41	blood
13	chr11:35236000-35248000	Strong transcription	Primary hematopoietic stem cells	blood
14	chr11:35236200-35252200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr11:35236200-35254400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr11:35236400-35253400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr11:35236400-35253400	Strong transcription	Fetal Muscle Trunk	muscle
18	chr11:35236800-35248400	Strong transcription	Adipose Nuclei	Adipose
19	chr11:35236800-35253200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr11:35236800-35259600	Weak transcription	Psoas Muscle	Psoas
21	chr11:35237000-35247000	Strong transcription	Hela-S3	cervix
22	chr11:35237000-35253000	Strong transcription	Sigmoid Colon	Sigmoid Colon
23	chr11:35237000-35254600	Strong transcription	HSMM	muscle
24	chr11:35237000-35259600	Weak transcription	HUVEC	blood vessel
25	chr11:35238200-35250600	Weak transcription	Stomach Mucosa	stomach
26	chr11:35238400-35248000	Weak transcription	Right Ventricle	heart
27	chr11:35238800-35253200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr11:35239200-35245000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr11:35239200-35247200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr11:35239200-35248000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr11:35239200-35248800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr11:35239200-35249600	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr11:35239200-35253200	Strong transcription	NHEK	skin
34	chr11:35239200-35253600	Strong transcription	HMEC	breast
35	chr11:35239200-35257600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr11:35239400-35246800	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr11:35239400-35246800	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr11:35239400-35247200	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr11:35239400-35247200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr11:35239400-35247800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr11:35239400-35249000	Strong transcription	Primary B cells from peripheral blood	blood
42	chr11:35239400-35253800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr11:35239800-35251600	Weak transcription	Ovary	ovary
44	chr11:35239800-35254600	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr11:35239800-35254600	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr11:35239800-35255000	Strong transcription	Primary T cells from cord blood	blood
47	chr11:35240000-35249400	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr11:35240000-35253000	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr11:35240200-35247000	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr11:35240200-35248000	Strong transcription	Primary T killer memory cells from peripheral blood	blood

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