Variant report

Variant	nsv1041794
Chromosome Location	chr11:92893654-92915055
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	chr11:92902294-92902665	IMR90	lung:	n/a	chr11:92902468-92902479
4	CEBPB	chr11:92902285-92902616	H1-hESC	embryonic stem cell:	n/a	chr11:92902468-92902479
5	CEBPB	chr11:92902286-92902674	Hela-S3	cervix:	n/a	chr11:92902468-92902479
6	CEBPB	chr11:92902254-92902666	A549	lung:	n/a	chr11:92902468-92902479
7	CEBPB	chr11:92902299-92902653	HepG2	liver:	n/a	chr11:92902468-92902479
8	CEBPB	chr11:92914385-92914488	K562	blood:	n/a	n/a
9	CEBPB	chr11:92902324-92902661	A549	lung:	n/a	chr11:92902468-92902479
10	CEBPB	chr11:92902294-92902662	K562	blood:	n/a	chr11:92902468-92902479
11	CTCF	chr11:92903280-92903430	Hela-S3	cervix:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
12	CTCF	chr11:92903240-92903390	GM12878	blood:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
13	CTCF	chr11:92903260-92903410	GM12866	blood:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
14	CTCF	chr11:92903209-92903432	Hela-S3	cervix:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
15	CTCF	chr11:92903200-92903350	K562	blood:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
16	CTCF	chr11:92903026-92903538	HCT-116	colon:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
17	CTCF	chr11:92903293-92903356	MCF-7	breast:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
18	CTCF	chr11:92894120-92894270	GM12872	blood:	n/a	n/a
19	CTCF	chr11:92903218-92903403	A549	lung:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
20	CTCF	chr11:92903220-92903370	HCT-116	colon:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
21	CTCF	chr11:92903280-92903430	HA-sp	spinal cord:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
22	CTCF	chr11:92903297-92903369	GM13976	blood:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
23	CTCF	chr11:92903200-92903350	NB4	blood:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
24	CTCF	chr11:92903220-92903370	SAEC	small airway:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
25	CTCF	chr11:92903260-92903410	HBMEC	blood vessel:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
26	CTCF	chr11:92903232-92903406	K562	blood:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
27	CTCF	chr11:92903184-92903361	SK-N-SH_RA	brain:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
28	CTCF	chr11:92903248-92903419	Pancreas_OC	pancreas:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
29	CTCF	chr11:92903006-92903840	SK-N-SH	brain:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
30	CTCF	chr11:92903300-92903450	GM12874	blood:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
31	CTCF	chr11:92903220-92903370	AG09309	skin:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
32	CTCF	chr11:92894100-92894250	GM12875	blood:	n/a	n/a
33	CTCF	chr11:92894040-92894190	HPAF	blood vessel:	n/a	n/a
34	CTCF	chr11:92903220-92903370	GM12869	blood:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
35	CTCF	chr11:92903300-92903450	HAc	cerebellar:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
36	CTCF	chr11:92903280-92903430	HVMF	connective:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
37	CTCF	chr11:92903218-92903402	HepG2	liver:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
38	CTCF	chr11:92903260-92903410	HFF	foreskin:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
39	CTCF	chr11:92903240-92903390	HEEpiC	esophagus:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
40	CTCF	chr11:92903260-92903410	HPAF	blood vessel:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
41	CTCF	chr11:92903280-92903430	SK-N-SH_RA	brain:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
42	CTCF	chr11:92903292-92903363	MCF-7	breast:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
43	CTCF	chr11:92903240-92903390	GM12864	blood:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
44	CTCF	chr11:92903246-92903394	SK-N-SH_RA	brain:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
45	CTCF	chr11:92903220-92903370	K562	blood:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
46	CTCF	chr11:92903257-92903400	GM13977	blood:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
47	CTCF	chr11:92903200-92903350	GM12875	blood:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
48	CTCF	chr11:92903164-92903438	H1-hESC	embryonic stem cell:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
49	CTCF	chr11:92903220-92903370	AG10803	skin:	n/a	chr11:92903306-92903327 chr11:92903311-92903329
50	CTCF	chr11:92903220-92903370	HCM	heart:	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: 687 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:687 , 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	rs1508607	chr11:92893654-92893655	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs550272789	chr11:92893679-92893680	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552311894	chr11:92893693-92893694	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs115210184	chr11:92893712-92893713	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs189765375	chr11:92893799-92893800	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs1508608	chr11:92893825-92893826	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs113643710	chr11:92893882-92893883	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs373173512	chr11:92893902-92893903	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535982998	chr11:92893917-92893918	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs75580196	chr11:92894008-92894009	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553962264	chr11:92894034-92894035	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112779681	chr11:92894097-92894098	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183721863	chr11:92894156-92894157	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs117708973	chr11:92894187-92894188	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs377751097	chr11:92894212-92894213	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576339391	chr11:92894323-92894324	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542579402	chr11:92894362-92894363	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535324646	chr11:92894407-92894408	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376182669	chr11:92894435-92894436	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10830995	chr11:92894447-92894448	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs189061792	chr11:92894452-92894453	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541558438	chr11:92894668-92894669	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560183911	chr11:92894780-92894781	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576526126	chr11:92894836-92894837	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192826091	chr11:92894860-92894861	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185255906	chr11:92894915-92894916	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560006702	chr11:92894934-92894935	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187681256	chr11:92894936-92894937	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191703584	chr11:92894966-92894967	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs527623515	chr11:92894993-92894994	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564264866	chr11:92895004-92895005	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531675462	chr11:92895183-92895184	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550079822	chr11:92895223-92895224	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373759888	chr11:92895250-92895251	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529323579	chr11:92895269-92895270	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201570020	chr11:92895284-92895285	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547744783	chr11:92895307-92895308	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374402063	chr11:92895363-92895364	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566044802	chr11:92895385-92895386	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs1158347	chr11:92895399-92895400	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs118138183	chr11:92895475-92895476	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569911989	chr11:92895497-92895498	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537374807	chr11:92895504-92895505	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555624988	chr11:92895511-92895512	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184297212	chr11:92895559-92895560	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553663320	chr11:92895560-92895561	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535123883	chr11:92895567-92895568	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201039338	chr11:92895615-92895616	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188155550	chr11:92895624-92895625	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561528271	chr11:92895631-92895632	Weak transcription 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:522 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

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	chr11:92875400-92910400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr11:92876400-92896600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr11:92876600-92900400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr11:92876600-92910600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr11:92876800-92910600	Weak transcription	Lung	lung
8	chr11:92877000-92911400	Weak transcription	Osteobl	bone
9	chr11:92877200-92894800	Weak transcription	HSMM	muscle
10	chr11:92877800-92899600	Weak transcription	NHLF	lung
11	chr11:92877800-92915000	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr11:92878000-92894600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr11:92878400-92910600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr11:92878800-92895800	Weak transcription	Brain Germinal Matrix	brain
15	chr11:92878800-92896000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr11:92879000-92896600	Weak transcription	Ovary	ovary
17	chr11:92879000-92900200	Weak transcription	Fetal Muscle Leg	muscle
18	chr11:92879000-92910800	Weak transcription	HSMMtube	muscle
19	chr11:92879200-92896600	Weak transcription	Fetal Brain Female	brain
20	chr11:92879600-92910000	Weak transcription	Fetal Brain Male	brain
21	chr11:92879600-92910800	Weak transcription	HMEC	breast
22	chr11:92880200-92894600	Weak transcription	Placenta	Placenta
23	chr11:92880400-92895800	Weak transcription	Brain Angular Gyrus	brain
24	chr11:92881200-92894000	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr11:92881200-92894800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr11:92881200-92899200	Weak transcription	NH-A	brain
27	chr11:92881800-92895200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr11:92882000-92910600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr11:92884400-92894200	Weak transcription	Hela-S3	cervix
30	chr11:92884600-92897000	Weak transcription	Brain Hippocampus Middle	brain
31	chr11:92885000-92896400	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr11:92885000-92897200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr11:92885200-92896600	Weak transcription	HUVEC	blood vessel
34	chr11:92885600-92896400	Weak transcription	Liver	Liver
35	chr11:92885800-92910000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr11:92886000-92896400	Weak transcription	Rectal Smooth Muscle	rectum
37	chr11:92888000-92900000	Weak transcription	Fetal Kidney	kidney
38	chr11:92888400-92900600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr11:92889000-92895800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr11:92889000-92896600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr11:92889000-92899800	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr11:92889000-92900200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr11:92889400-92896600	Weak transcription	Stomach Smooth Muscle	stomach
44	chr11:92889600-92896400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr11:92889600-92902200	Weak transcription	Fetal Intestine Large	intestine
46	chr11:92889800-92896400	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr11:92889800-92900200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr11:92889800-92911200	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr11:92889800-92913600	Weak transcription	Spleen	Spleen
50	chr11:92890000-92899600	Strong transcription	Primary monocytes fromperipheralblood	blood

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