Variant report

Variant	nsv469438
Chromosome Location	chr2:11055298-11085744
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:47)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:47 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:11063866..11066911-chr2:11073875..11076596,3	K562	blood:
2	chr2:11075163..11076703-chr2:11081992..11083807,2	K562	blood:
3	chr2:11063730..11067649-chr2:11070741..11076086,7	MCF-7	breast:
4	chr2:11084869..11086580-chr2:11100283..11102458,2	MCF-7	breast:
5	chr2:11074723..11077921-chr2:11081034..11085033,4	MCF-7	breast:
6	chr2:11049134..11051684-chr2:11064717..11067313,2	K562	blood:
7	chr2:11063866..11066911-chr2:11073875..11076596,3	K562	blood:
8	chr2:11071388..11071888-chr2:11168643..11169182,2	MCF-7	breast:
9	chr2:11055046..11056818-chr2:11058961..11061152,2	MCF-7	breast:
10	chr2:11065411..11067104-chr2:11075096..11077076,2	K562	blood:
11	chr2:11074952..11076639-chr2:11264485..11265994,2	MCF-7	breast:
12	chr2:11054784..11057728-chr2:11061728..11064590,3	MCF-7	breast:
13	chr2:11057377..11060185-chr2:11071124..11073413,3	MCF-7	breast:
14	chr2:11054784..11057728-chr2:11061728..11064590,3	MCF-7	breast:
15	chr2:11056290..11057062-chr2:11066095..11066758,2	K562	blood:
16	chr2:11057377..11060185-chr2:11071124..11073413,3	MCF-7	breast:
17	chr2:11073057..11076699-chr2:11262086..11264690,5	MCF-7	breast:
18	chr2:11070868..11073523-chr2:11073573..11076580,4	MCF-7	breast:
19	chr2:11050045..11052988-chr2:11069931..11072758,2	MCF-7	breast:
20	chr2:11059744..11063370-chr2:11065035..11067309,5	K562	blood:
21	chr2:11051873..11054967-chr2:11069156..11073328,3	MCF-7	breast:
22	chr2:11060369..11062715-chr2:11069853..11071919,2	MCF-7	breast:
23	chr2:11053991..11056052-chr2:11065201..11067671,2	MCF-7	breast:
24	chr2:11056290..11057062-chr2:11066095..11066758,2	K562	blood:
25	chr2:11052090..11054765-chr2:11077274..11080049,2	K562	blood:
26	chr2:11074723..11077921-chr2:11081034..11085033,4	MCF-7	breast:
27	chr2:11053991..11056052-chr2:11065201..11067671,2	MCF-7	breast:
28	chr2:11079423..11082199-chr2:11261884..11263579,2	MCF-7	breast:
29	chr2:11075163..11076703-chr2:11081992..11083807,2	K562	blood:
30	chr2:11060369..11062715-chr2:11069853..11071919,2	MCF-7	breast:
31	chr2:11070868..11073523-chr2:11073573..11076580,4	MCF-7	breast:
32	chr2:11065411..11067104-chr2:11075096..11077076,2	K562	blood:
33	chr2:11051947..11053779-chr2:11056308..11059546,3	MCF-7	breast:
34	chr2:11051950..11054777-chr2:11076610..11078449,2	MCF-7	breast:
35	chr2:11049420..11051539-chr2:11073823..11076217,2	MCF-7	breast:
36	chr2:11050815..11054618-chr2:11074174..11077815,3	MCF-7	breast:
37	chr2:11055046..11056818-chr2:11058961..11061152,2	MCF-7	breast:
38	chr2:11074983..11076503-chr2:11504797..11506450,2	MCF-7	breast:
39	chr2:11051784..11053608-chr2:11064157..11066409,2	MCF-7	breast:
40	chr2:11063730..11067649-chr2:11070741..11076086,7	MCF-7	breast:
41	chr2:11084981..11086535-chr2:11089917..11092199,2	MCF-7	breast:
42	chr2:11053891..11056006-chr2:11074074..11075819,2	MCF-7	breast:
43	chr2:11054478..11056999-chr2:11265255..11267127,2	MCF-7	breast:
44	chr2:11051753..11053643-chr2:11073602..11075521,2	MCF-7	breast:
45	chr2:11059744..11063370-chr2:11065035..11067309,5	K562	blood:
46	chr2:11053891..11056006-chr2:11074074..11075819,2	MCF-7	breast:
47	chr2:11075391..11077482-chr2:11261458..11263483,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCNF1-1	chr2:11075634-11075980	NONHSAT069134

No data

Variant related genes	Relation type
ENSG00000162975	chromatin interactions
ENSG00000230952	chromatin interactions

Extended variants
information (count: 1337 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:1337 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17365678	chr2:11055298-11055299	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs543476576	chr2:11055323-11055324	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs12623956	chr2:11055328-11055329	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs529220742	chr2:11055383-11055384	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs547575045	chr2:11055446-11055447	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs559287285	chr2:11055471-11055472	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs533203721	chr2:11055507-11055508	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs2123483	chr2:11055557-11055558	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs570168531	chr2:11055611-11055612	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs537028222	chr2:11055625-11055626	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs59786077	chr2:11055636-11055637	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs184800408	chr2:11055637-11055638	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs148058253	chr2:11055645-11055646	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs61193809	chr2:11055652-11055653	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs553100942	chr2:11055670-11055671	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs578108178	chr2:11055687-11055688	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs73184560	chr2:11055728-11055729	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs141812454	chr2:11055783-11055784	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs535399783	chr2:11055798-11055799	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs372244469	chr2:11055837-11055838	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs60600332	chr2:11055838-11055839	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs561676838	chr2:11055852-11055853	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs188627888	chr2:11055853-11055854	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs58555121	chr2:11055878-11055879	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs113576857	chr2:11055907-11055908	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs559643098	chr2:11055930-11055931	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs146031473	chr2:11055942-11055943	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs551582754	chr2:11055963-11055964	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs576163385	chr2:11056004-11056005	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
30	rs373093756	chr2:11056024-11056025	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
31	rs530925530	chr2:11056092-11056093	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
32	rs115007096	chr2:11056093-11056094	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
33	rs551895963	chr2:11056128-11056129	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
34	rs555744741	chr2:11056155-11056156	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
35	rs112930156	chr2:11056177-11056178	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
36	rs78982529	chr2:11056183-11056184	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
37	rs546967843	chr2:11056268-11056269	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs191941846	chr2:11056276-11056277	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs573403831	chr2:11056282-11056283	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs538834683	chr2:11056284-11056285	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs557546925	chr2:11056310-11056311	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs576015589	chr2:11056315-11056316	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs537146851	chr2:11056348-11056349	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs555548872	chr2:11056377-11056378	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs573672622	chr2:11056394-11056395	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs541065513	chr2:11056419-11056420	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs184369529	chr2:11056425-11056426	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs140004820	chr2:11056505-11056506	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs544839126	chr2:11056509-11056510	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs563506081	chr2:11056571-11056572	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Mental retardation	17847001	CNVD
Glioblastoma multiforme	21080181	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Cancer	20164920	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Glioma	17123091	CNVD
Breast cancer	20409316	CNVD
Multiple myeloma	16616336	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	21251322	CNVD

Chromatin state (count:402 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11051600-11056200	Active TSS	Brain Angular Gyrus	brain
2	chr2:11052800-11055400	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
3	chr2:11053600-11058200	Enhancers	Fetal Brain Male	brain
4	chr2:11053600-11058800	Weak transcription	Pancreas	Pancrea
5	chr2:11053800-11056000	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr2:11053800-11058800	Weak transcription	Gastric	stomach
7	chr2:11054000-11056600	Active TSS	Brain Anterior Caudate	brain
8	chr2:11054200-11055600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:11054200-11056400	Active TSS	Brain Germinal Matrix	brain
10	chr2:11054200-11063600	Enhancers	Fetal Thymus	thymus
11	chr2:11054400-11055400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:11054400-11072400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:11054600-11055400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:11054600-11058800	Weak transcription	Hela-S3	cervix
15	chr2:11054600-11059000	Weak transcription	Right Ventricle	heart
16	chr2:11054800-11055400	Bivalent Enhancer	Fetal Muscle Leg	muscle
17	chr2:11054800-11055600	Transcr. at gene 5' and 3'	Cortex derived primary cultured neurospheres	brain
18	chr2:11054800-11058800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:11055000-11056000	Active TSS	Brain Cingulate Gyrus	brain
20	chr2:11055000-11056200	Active TSS	Brain Hippocampus Middle	brain
21	chr2:11055000-11056200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr2:11055200-11055400	Active TSS	Fetal Muscle Trunk	muscle
23	chr2:11055200-11055600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr2:11055200-11056400	Flanking Active TSS	Fetal Brain Female	brain
25	chr2:11055200-11069800	Weak transcription	A549	lung
26	chr2:11055400-11055600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
27	chr2:11055400-11056000	Enhancers	Fetal Muscle Leg	muscle
28	chr2:11055400-11056400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr2:11055400-11056400	Active TSS	Brain Inferior Temporal Lobe	brain
30	chr2:11055400-11056600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr2:11055600-11055800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
32	chr2:11055600-11055800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
33	chr2:11055600-11056200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:11055600-11056400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
35	chr2:11055600-11056600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr2:11055800-11056000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
37	chr2:11055800-11056400	Enhancers	H1 Cell Line	embryonic stem cell
38	chr2:11055800-11056400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:11055800-11056600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
40	chr2:11055800-11056600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr2:11056000-11056200	Enhancers	Fetal Lung	lung
42	chr2:11056000-11056200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
43	chr2:11056000-11056200	Flanking Active TSS	Fetal Muscle Leg	muscle
44	chr2:11056000-11056600	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr2:11056000-11056800	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr2:11056000-11059400	Weak transcription	Brain Cingulate Gyrus	brain
47	chr2:11056200-11056400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr2:11056200-11056600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr2:11056200-11058800	Weak transcription	Brain Hippocampus Middle	brain
50	chr2:11056200-11060200	Weak transcription	Brain Angular Gyrus	brain

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