Variant report

Variant	nsv975953
Chromosome Location	chr11:77578748-77581969
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFYB	chr11:77580747-77580995	K562	blood:	n/a	n/a
2	POLR2A	chr11:77580421-77580505	MCF-7	breast:	n/a	n/a
3	POLR2A	chr11:77580916-77581028	HepG2	liver:	n/a	n/a
4	POLR2A	chr11:77579799-77579847	ProgFib	skin:	n/a	n/a
5	POLR2A	chr11:77580797-77580945	A549	lung:	n/a	n/a
6	POLR2A	chr11:77580447-77580464	MCF-7	breast:	n/a	n/a
7	POLR2A	chr11:77580516-77580884	PFSK-1	brain:	n/a	n/a
8	STAT3	chr11:77578732-77578932	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:77576100..77579696-chr11:77579769..77582425,3	MCF-7	breast:
2	chr11:77578952..77581707-chr11:77586888..77589735,2	K562	blood:
3	chr11:77575598..77577127-chr11:77577485..77580185,2	K562	blood:
4	chr11:77581791..77584975-chr11:77585313..77588016,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-INTS4-1	chr11:77580741-77581137	ENSG00000255449.1
2	lnc-INTS4-3	chr11:77579768-77580241	NONHSAT023239

No data

Variant related genes	Relation type
ENSG00000241782	TF binding region
ENSG00000255449	TF binding region
ENSG00000255449	chromatin interactions
ENSG00000087884	chromatin interactions
ENSG00000241782	chromatin interactions

Extended variants
information (count: 129 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:129 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549468862	chr11:77578840-77578841	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs569268503	chr11:77578855-77578856	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs535096803	chr11:77578886-77578887	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs143329977	chr11:77578961-77578962	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs147525587	chr11:77578974-77578975	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs534802716	chr11:77578976-77578977	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs148403293	chr11:77579035-77579036	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs566477888	chr11:77579104-77579105	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs35305436	chr11:77579105-77579106	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs577415216	chr11:77579133-77579134	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs546276226	chr11:77579141-77579142	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs113402217	chr11:77579178-77579179	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs368456552	chr11:77579212-77579213	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs566595453	chr11:77579226-77579227	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs539537262	chr11:77579227-77579228	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs181906942	chr11:77579250-77579251	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs142535408	chr11:77579302-77579303	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs562389117	chr11:77579337-77579338	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs527940179	chr11:77579383-77579384	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs186284494	chr11:77579389-77579390	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs575872676	chr11:77579404-77579405	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs548715701	chr11:77579442-77579443	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs564386747	chr11:77579445-77579446	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs533341189	chr11:77579469-77579470	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs375407954	chr11:77579529-77579530	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs191650123	chr11:77579551-77579552	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs150928743	chr11:77579553-77579554	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs183049388	chr11:77579554-77579555	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs548666279	chr11:77579592-77579593	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs556481028	chr11:77579605-77579606	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs188144270	chr11:77579622-77579623	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs576337942	chr11:77579662-77579663	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs371038818	chr11:77579690-77579691	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs575076133	chr11:77579720-77579721	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs545867165	chr11:77579739-77579740	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs115270704	chr11:77579741-77579742	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs200257203	chr11:77579745-77579746	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs35268607	chr11:77579746-77579747	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs694845	chr11:77579747-77579748	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs537223976	chr11:77579765-77579766	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs538868169	chr11:77579766-77579767	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs12361735	chr11:77579774-77579775	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs191083719	chr11:77579791-77579792	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs182303916	chr11:77579853-77579854	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs555429468	chr11:77579861-77579862	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs553912328	chr11:77579869-77579870	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs572401866	chr11:77579964-77579965	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs369914989	chr11:77580031-77580032	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs60293361	chr11:77580040-77580041	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs533375798	chr11:77580048-77580049	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Glioblastoma multiforme	21138945	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
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	22355333	CNVD
Breast cancer	20932292	CNVD
Cancer	20164920	CNVD
Ovarian cancer	20844748	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17142309	CNVD
Colorectal cancer	16912164	CNVD
Mental retardation	17847001	CNVD
Melanoma	19509136	CNVD
Sudden cardiac death	19188705	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:222 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77548800-77582800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr11:77566000-77592600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr11:77566200-77579800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr11:77566200-77580000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr11:77566200-77580400	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr11:77566200-77580600	Weak transcription	HSMM	muscle
7	chr11:77566200-77582000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr11:77566200-77582600	Weak transcription	Colonic Mucosa	Colon
9	chr11:77566200-77583200	Weak transcription	Pancreas	Pancrea
10	chr11:77566200-77589000	Weak transcription	NHLF	lung
11	chr11:77566200-77589600	Weak transcription	Esophagus	oesophagus
12	chr11:77566200-77594600	Weak transcription	Colon Smooth Muscle	Colon
13	chr11:77566400-77582000	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr11:77566400-77582800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr11:77566400-77583000	Weak transcription	Spleen	Spleen
16	chr11:77566600-77580200	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr11:77566800-77580200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr11:77566800-77587800	Weak transcription	A549	lung
19	chr11:77567000-77580600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr11:77567000-77581800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr11:77567000-77582600	Weak transcription	HUVEC	blood vessel
22	chr11:77567000-77586600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr11:77567400-77582600	Weak transcription	Placenta	Placenta
24	chr11:77567600-77582600	Weak transcription	Primary T cells from cord blood	blood
25	chr11:77567600-77589600	Weak transcription	HepG2	liver
26	chr11:77567800-77579600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr11:77567800-77580600	Weak transcription	Rectal Smooth Muscle	rectum
28	chr11:77567800-77582400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr11:77567800-77582600	Weak transcription	Primary B cells from cord blood	blood
30	chr11:77567800-77582800	Weak transcription	Brain Substantia Nigra	brain
31	chr11:77567800-77582800	Weak transcription	Fetal Brain Female	brain
32	chr11:77567800-77589400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr11:77567800-77594800	Weak transcription	Brain Angular Gyrus	brain
34	chr11:77568000-77579800	Weak transcription	Fetal Muscle Trunk	muscle
35	chr11:77568000-77579800	Weak transcription	Thymus	Thymus
36	chr11:77568000-77580400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr11:77568000-77580400	Weak transcription	Aorta	Aorta
38	chr11:77568000-77580600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr11:77568000-77580600	Weak transcription	GM12878-XiMat	blood
40	chr11:77568000-77580800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr11:77568000-77582400	Weak transcription	Brain Cingulate Gyrus	brain
42	chr11:77568000-77582800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr11:77568000-77583000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr11:77568000-77586800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr11:77568000-77587000	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr11:77568200-77579800	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr11:77568200-77579800	Weak transcription	Fetal Thymus	thymus
48	chr11:77568200-77580000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr11:77568200-77582600	Weak transcription	Brain Hippocampus Middle	brain
50	chr11:77568200-77583000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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