Variant report

Variant	nsv38718
Chromosome Location	chr11:74505340-74507033
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:74458687..74461442-chr11:74503355..74507008,3	MCF-7	breast:
2	chr11:74505770..74509480-chr11:74510244..74512859,3	K562	blood:
3	chr11:74505770..74508769-chr11:74510244..74513511,3	K562	blood:

Variant related genes	Relation type
ENSG00000166439	chromatin interactions

Extended variants
information (count: 50 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:50 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143499083	chr11:74505344-74505345	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs185920750	chr11:74505378-74505379	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs191070256	chr11:74505422-74505423	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs549512205	chr11:74505494-74505495	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs571247170	chr11:74505515-74505516	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs532751249	chr11:74505533-74505534	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs554910664	chr11:74505599-74505600	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs574966531	chr11:74505910-74505911	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs540431105	chr11:74505927-74505928	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs559044246	chr11:74505964-74505965	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs73492727	chr11:74506113-74506114	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs76611678	chr11:74506151-74506152	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs368241360	chr11:74506169-74506170	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs374784315	chr11:74506182-74506183	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs564518507	chr11:74506196-74506197	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs557914824	chr11:74506224-74506225	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs530761725	chr11:74506235-74506236	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs201068423	chr11:74506236-74506237	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs370754690	chr11:74506265-74506266	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs200314286	chr11:74506266-74506267	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs372799147	chr11:74506267-74506268	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs202128121	chr11:74506279-74506280	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs71471318	chr11:74506282-74506283	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs553180657	chr11:74506387-74506388	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs560986643	chr11:74506392-74506393	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs181735110	chr11:74506413-74506414	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs186364365	chr11:74506419-74506420	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs546786716	chr11:74506435-74506436	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs566383777	chr11:74506468-74506469	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs372229344	chr11:74506569-74506570	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs150790387	chr11:74506578-74506579	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs552629785	chr11:74506635-74506636	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs57031821	chr11:74506636-74506637	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs78392983	chr11:74506637-74506638	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs555252602	chr11:74506653-74506654	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs200409157	chr11:74506676-74506677	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs568613288	chr11:74506696-74506697	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs534421401	chr11:74506717-74506718	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs190372423	chr11:74506727-74506728	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs572632391	chr11:74506731-74506732	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs368000731	chr11:74506737-74506738	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs558172915	chr11:74506770-74506771	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs139161752	chr11:74506785-74506786	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs79255752	chr11:74506794-74506795	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs561261691	chr11:74506835-74506836	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs201392526	chr11:74506902-74506903	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs372665155	chr11:74506908-74506909	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs555283551	chr11:74506942-74506943	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs74564539	chr11:74506997-74506998	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs144969779	chr11:74507019-74507020	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Glioblastoma multiforme	21080181	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chordoma	21602918	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	21364760	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	16616336	CNVD
Urothelial cell carcinoma	18451213	CNVD
Leukoplakia	24403051	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	18438408	CNVD

Chromatin state (count:173 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74494800-74530600	Weak transcription	NH-A	brain
2	chr11:74496000-74508000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr11:74496000-74518200	Weak transcription	Psoas Muscle	Psoas
4	chr11:74496200-74507800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr11:74496200-74533000	Weak transcription	Fetal Brain Male	brain
6	chr11:74500000-74506200	Strong transcription	Primary T cells from cord blood	blood
7	chr11:74500000-74508600	Strong transcription	Fetal Muscle Trunk	muscle
8	chr11:74500200-74505400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:74500400-74506000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr11:74500600-74506600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr11:74500600-74508600	Strong transcription	Primary T helper cells PMA-I stimulated	--
12	chr11:74500600-74509200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr11:74500800-74505400	Strong transcription	Brain Inferior Temporal Lobe	brain
14	chr11:74500800-74505400	Strong transcription	Sigmoid Colon	Sigmoid Colon
15	chr11:74500800-74505400	Strong transcription	HSMM	muscle
16	chr11:74500800-74505800	Strong transcription	Osteobl	bone
17	chr11:74500800-74506000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr11:74500800-74506200	Strong transcription	Primary B cells from cord blood	blood
19	chr11:74500800-74506200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr11:74500800-74506600	Strong transcription	Liver	Liver
21	chr11:74500800-74507000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr11:74500800-74509400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr11:74500800-74510600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr11:74501000-74505400	Strong transcription	Rectal Mucosa Donor 31	rectum
25	chr11:74501200-74506800	Strong transcription	Fetal Lung	lung
26	chr11:74501600-74505600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr11:74501600-74507600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr11:74502000-74506600	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr11:74502200-74506200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr11:74502200-74507800	Strong transcription	Fetal Muscle Leg	muscle
31	chr11:74502400-74506600	Strong transcription	Brain Germinal Matrix	brain
32	chr11:74502400-74506800	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr11:74502400-74508800	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr11:74502600-74505600	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr11:74502600-74507200	Weak transcription	Small Intestine	intestine
36	chr11:74502600-74508600	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr11:74502600-74519400	Weak transcription	HUVEC	blood vessel
38	chr11:74502600-74527800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr11:74502800-74505800	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr11:74502800-74506200	Strong transcription	Fetal Intestine Large	intestine
41	chr11:74502800-74506600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr11:74502800-74507000	Weak transcription	GM12878-XiMat	blood
43	chr11:74502800-74507600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr11:74502800-74545600	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr11:74503000-74505400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr11:74503000-74505400	Weak transcription	Colonic Mucosa	Colon
47	chr11:74503000-74506000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr11:74503000-74506200	Weak transcription	Thymus	Thymus
49	chr11:74503000-74506600	Strong transcription	Fetal Thymus	thymus
50	chr11:74503000-74506800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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