Variant report

Variant	nsv1045544
Chromosome Location	chr11:92889187-92915055
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:92903235-92903466	K562	blood:	n/a	n/a
2	ARID3A	chr11:92903283-92903384	HepG2	liver:	n/a	n/a
3	CEBPB	chr11:92902254-92902666	A549	lung:	n/a	chr11:92902468-92902479
4	CEBPB	chr11:92902324-92902661	A549	lung:	n/a	chr11:92902468-92902479
5	CEBPB	chr11:92902294-92902665	IMR90	lung:	n/a	chr11:92902468-92902479
6	CEBPB	chr11:92902285-92902616	H1-hESC	embryonic stem cell:	n/a	chr11:92902468-92902479
7	CEBPB	chr11:92902294-92902662	K562	blood:	n/a	chr11:92902468-92902479
8	CEBPB	chr11:92902299-92902653	HepG2	liver:	n/a	chr11:92902468-92902479
9	CEBPB	chr11:92914385-92914488	K562	blood:	n/a	n/a
10	CEBPB	chr11:92902286-92902674	Hela-S3	cervix:	n/a	chr11:92902468-92902479
11	CTCF	chr11:92903272-92903404	Lung_OC	lung:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
12	CTCF	chr11:92903200-92903350	GM12878	blood:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
13	CTCF	chr11:92903282-92903378	Kidney_OC	kidney:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
14	CTCF	chr11:92903260-92903410	GM12873	blood:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
15	CTCF	chr11:92903240-92903415	LNCaP	prostate:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
16	CTCF	chr11:92903240-92903390	GM12874	blood:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
17	CTCF	chr11:92903280-92903430	SK-N-SH_RA	brain:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
18	CTCF	chr11:92894020-92894170	GM12873	blood:	n/a	n/a
19	CTCF	chr11:92903240-92903404	GM10266	blood:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
20	CTCF	chr11:92903202-92903496	MCF-7	breast:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
21	CTCF	chr11:92903200-92903350	HL-60	blood:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
22	CTCF	chr11:92903260-92903410	HCPEpiC	choroid plexus:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
23	CTCF	chr11:92903240-92903390	HBMEC	blood vessel:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
24	CTCF	chr11:92903200-92903350	NB4	blood:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
25	CTCF	chr11:92903240-92903390	GM12865	blood:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
26	CTCF	chr11:92903280-92903430	WERI-Rb-1	eye:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
27	CTCF	chr11:92903320-92903470	HMEC	breast:	n/a	n/a
28	CTCF	chr11:92903234-92903423	GM12878	blood:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
29	CTCF	chr11:92903240-92903390	HMEC	breast:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
30	CTCF	chr11:92903200-92903350	K562	blood:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
31	CTCF	chr11:92903265-92903386	Spleen_OC	spleen:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
32	CTCF	chr11:92903240-92903390	HCPEpiC	choroid plexus:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
33	CTCF	chr11:92903209-92903432	Hela-S3	cervix:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
34	CTCF	chr11:92903184-92903361	SK-N-SH_RA	brain:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
35	CTCF	chr11:92903292-92903363	MCF-7	breast:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
36	CTCF	chr11:92903240-92903390	MCF-7	breast:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
37	CTCF	chr11:92903240-92903390	GM12871	blood:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
38	CTCF	chr11:92903143-92903381	K562	blood:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
39	CTCF	chr11:92893960-92894110	RPTEC	kidney:	n/a	n/a
40	CTCF	chr11:92903206-92903386	A549	lung:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
41	CTCF	chr11:92903164-92903438	H1-hESC	embryonic stem cell:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
42	CTCF	chr11:92894100-92894250	GM12875	blood:	n/a	n/a
43	CTCF	chr11:92903700-92903850	HPAF	blood vessel:	n/a	n/a
44	CTCF	chr11:92903240-92903390	Hela-S3	cervix:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
45	CTCF	chr11:92903240-92903390	Caco-2	colon:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
46	CTCF	chr11:92903260-92903410	GM12865	blood:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
47	CTCF	chr11:92903220-92903370	HUVEC	blood vessel:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
48	CTCF	chr11:92903260-92903410	HFF	foreskin:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
49	CTCF	chr11:92903232-92903396	HepG2	liver:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
50	CTCF	chr11:92903260-92903410	GM12871	blood:	n/a	chr11:92903306-92903327 chr11:92903311-92903329

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:92895585..92897529-chr11:92904062..92906165,2	K562	blood:
2	chr11:92895585..92897529-chr11:92904062..92906165,2	K562	blood:

Variant related genes	Relation type
SLC36A4	TF binding region

Extended variants
information (count: 804 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:804 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76952828	chr11:92889197-92889198	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs79776516	chr11:92889332-92889333	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs75082349	chr11:92889334-92889335	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs373847399	chr11:92889358-92889359	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs140309907	chr11:92889369-92889370	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186819178	chr11:92889388-92889389	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs367976776	chr11:92889418-92889419	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201852280	chr11:92889466-92889467	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553008333	chr11:92889493-92889494	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571385675	chr11:92889496-92889497	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538839327	chr11:92889534-92889535	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562354891	chr11:92889535-92889536	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192398259	chr11:92889544-92889545	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558072801	chr11:92889594-92889595	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12222698	chr11:92889603-92889604	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554592842	chr11:92889730-92889731	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572881441	chr11:92889736-92889737	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540408340	chr11:92889742-92889743	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372698753	chr11:92889830-92889831	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542837442	chr11:92889886-92889887	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369807350	chr11:92889888-92889889	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565395232	chr11:92889892-92889893	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376876360	chr11:92889906-92889907	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113846724	chr11:92889967-92889968	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538009311	chr11:92890003-92890004	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557649864	chr11:92890085-92890086	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs75121281	chr11:92890220-92890221	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540155421	chr11:92890264-92890265	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs145342333	chr11:92890270-92890271	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563031298	chr11:92890282-92890283	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530456445	chr11:92890307-92890308	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185813651	chr11:92890311-92890312	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567296436	chr11:92890335-92890336	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143791113	chr11:92890356-92890357	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188229697	chr11:92890363-92890364	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571338875	chr11:92890384-92890385	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12786007	chr11:92890392-92890393	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs140690111	chr11:92890413-92890414	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7114913	chr11:92890419-92890420	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs193174853	chr11:92890467-92890468	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184569686	chr11:92890476-92890477	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572768925	chr11:92890599-92890600	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534219499	chr11:92890636-92890637	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111626732	chr11:92890639-92890640	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558633634	chr11:92890708-92890709	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577276638	chr11:92890843-92890844	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544369997	chr11:92890846-92890847	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563121846	chr11:92890872-92890873	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188723215	chr11:92890950-92890951	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542572525	chr11:92890956-92890957	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	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
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Prostate cancer	18632612	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Renal cell carcinoma	18194544	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	21062444	CNVD
Cancer	21499728	CNVD
Breast cancer	19181860	CNVD
Breast cancer	17603634	CNVD
Mantle cell lymphoma	19029149	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:593 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:92867200-92896400	Weak transcription	Primary B cells from peripheral blood	blood
2	chr11:92868400-92914600	Weak transcription	Brain Substantia Nigra	brain
3	chr11:92875000-92892800	Weak transcription	Primary B cells from cord blood	blood
4	chr11:92875400-92910400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr11:92876400-92896600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr11:92876600-92900400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr11:92876600-92910600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr11:92876800-92910600	Weak transcription	Lung	lung
9	chr11:92877000-92890400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr11:92877000-92911400	Weak transcription	Osteobl	bone
11	chr11:92877200-92890000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr11:92877200-92894800	Weak transcription	HSMM	muscle
13	chr11:92877800-92899600	Weak transcription	NHLF	lung
14	chr11:92877800-92915000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr11:92878000-92894600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr11:92878400-92910600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr11:92878600-92890800	Weak transcription	Left Ventricle	heart
18	chr11:92878800-92889200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr11:92878800-92890600	Weak transcription	Dnd41	blood
20	chr11:92878800-92893200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr11:92878800-92895800	Weak transcription	Brain Germinal Matrix	brain
22	chr11:92878800-92896000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr11:92879000-92889200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr11:92879000-92896600	Weak transcription	Ovary	ovary
25	chr11:92879000-92900200	Weak transcription	Fetal Muscle Leg	muscle
26	chr11:92879000-92910800	Weak transcription	HSMMtube	muscle
27	chr11:92879200-92890200	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr11:92879200-92890400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr11:92879200-92892600	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr11:92879200-92896600	Weak transcription	Fetal Brain Female	brain
31	chr11:92879600-92889200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr11:92879600-92890000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr11:92879600-92910000	Weak transcription	Fetal Brain Male	brain
34	chr11:92879600-92910800	Weak transcription	HMEC	breast
35	chr11:92880200-92894600	Weak transcription	Placenta	Placenta
36	chr11:92880400-92895800	Weak transcription	Brain Angular Gyrus	brain
37	chr11:92881200-92894000	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr11:92881200-92894800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr11:92881200-92899200	Weak transcription	NH-A	brain
40	chr11:92881400-92889200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr11:92881800-92895200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr11:92882000-92890400	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr11:92882000-92910600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr11:92884400-92894200	Weak transcription	Hela-S3	cervix
45	chr11:92884600-92897000	Weak transcription	Brain Hippocampus Middle	brain
46	chr11:92885000-92896400	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr11:92885000-92897200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr11:92885200-92896600	Weak transcription	HUVEC	blood vessel
49	chr11:92885600-92896400	Weak transcription	Liver	Liver
50	chr11:92885800-92910000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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