Variant report

Variant	nsv1011037
Chromosome Location	chr1:221756526-221809552
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:221768064..221770595-chr1:221774994..221777506,2	MCF-7	breast:
2	chr1:221793515..221795187-chr1:221798481..221800380,2	K562	blood:
3	chr1:221796853..221799053-chr1:221805880..221808710,2	K562	blood:
4	chr1:221782617..221784755-chr1:221788045..221789610,2	MCF-7	breast:
5	chr1:221766487..221768171-chr1:221768648..221770195,2	MCF-7	breast:
6	chr1:221796853..221799053-chr1:221805880..221808710,2	K562	blood:
7	chr1:221766487..221768171-chr1:221768648..221770195,2	MCF-7	breast:
8	chr1:221768064..221770595-chr1:221774994..221777506,2	MCF-7	breast:
9	chr1:221790481..221791096-chr3:68162539..68163265,2	MCF-7	breast:
10	chr1:221766078..221767726-chr1:221770721..221773346,2	MCF-7	breast:
11	chr1:221804697..221805537-chr1:222182197..222182723,2	MCF-7	breast:
12	chr1:221793515..221795187-chr1:221798481..221800380,2	K562	blood:
13	chr1:221804015..221806371-chr1:221811621..221813998,2	K562	blood:
14	chr1:221774036..221776758-chr1:221913845..221916015,2	MCF-7	breast:
15	chr1:221766078..221767726-chr1:221770721..221773346,2	MCF-7	breast:
16	chr1:221782617..221784755-chr1:221788045..221789610,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143507	chromatin interactions

Extended variants
information (count: 1463 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:1463 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112225334	chr1:221756604-221756605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs544047460	chr1:221756626-221756627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs9661253	chr1:221756662-221756663	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs78683778	chr1:221756683-221756684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539662464	chr1:221756700-221756701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551632262	chr1:221756755-221756756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs11118764	chr1:221756766-221756767	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs374179192	chr1:221756794-221756795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs527651030	chr1:221756847-221756848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs35500426	chr1:221756899-221756900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs373981766	chr1:221756920-221756921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs17010355	chr1:221756945-221756946	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs368162025	chr1:221756981-221756982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs189274706	chr1:221756983-221756984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs77643766	chr1:221757029-221757030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs556828452	chr1:221757113-221757114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs182157434	chr1:221757120-221757121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs370025693	chr1:221757122-221757123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs144297057	chr1:221757124-221757125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs566563252	chr1:221757144-221757145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs538982048	chr1:221757147-221757148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs554409342	chr1:221757173-221757174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs148750891	chr1:221757198-221757199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs556968634	chr1:221757243-221757244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs111646276	chr1:221757262-221757263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs142328295	chr1:221757273-221757274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs185944135	chr1:221757296-221757297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs74872993	chr1:221757350-221757351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs575646830	chr1:221757359-221757360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs562372363	chr1:221757383-221757384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs5781239	chr1:221757398-221757399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs577739948	chr1:221757406-221757407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs397730978	chr1:221757408-221757409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs112340042	chr1:221757420-221757421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs560357072	chr1:221757474-221757475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs527691741	chr1:221757514-221757515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs4261126	chr1:221757519-221757520	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs577715876	chr1:221757520-221757521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs561258983	chr1:221757522-221757523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs190864689	chr1:221757528-221757529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs139654145	chr1:221757543-221757544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs144518048	chr1:221757554-221757555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs146625867	chr1:221757573-221757574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs140247633	chr1:221757606-221757607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs566410131	chr1:221757655-221757656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs113075105	chr1:221757664-221757665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs145657781	chr1:221768037-221768038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs569362408	chr1:221768041-221768042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs540067996	chr1:221768042-221768043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs138208176	chr1:221768096-221768097	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Autism	14699429	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	20808228	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:219 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221756600-221757800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr1:221757000-221757200	Enhancers	NH-A	brain
3	chr1:221757000-221757400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:221757000-221757600	Enhancers	Osteobl	bone
5	chr1:221757200-221757600	Enhancers	K562	blood
6	chr1:221768000-221769200	Enhancers	HSMMtube	muscle
7	chr1:221768800-221769400	Enhancers	Primary B cells from peripheral blood	blood
8	chr1:221769200-221771000	Weak transcription	HSMMtube	muscle
9	chr1:221770800-221772000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:221771000-221771400	Enhancers	HSMMtube	muscle
11	chr1:221771200-221771800	Enhancers	Brain Hippocampus Middle	brain
12	chr1:221771200-221773000	Enhancers	Brain Cingulate Gyrus	brain
13	chr1:221771200-221773400	Enhancers	Brain Substantia Nigra	brain
14	chr1:221771400-221771800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr1:221771400-221771800	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr1:221771800-221772000	Enhancers	Brain Angular Gyrus	brain
17	chr1:221771800-221772200	Flanking Active TSS	Brain Hippocampus Middle	brain
18	chr1:221771800-221772200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
19	chr1:221771800-221772600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr1:221771800-221784600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr1:221772000-221773000	Weak transcription	Brain Angular Gyrus	brain
22	chr1:221772000-221779000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:221772200-221773000	Enhancers	Brain Hippocampus Middle	brain
24	chr1:221772200-221773200	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr1:221772600-221773000	Enhancers	Brain Anterior Caudate	brain
26	chr1:221773000-221773200	Enhancers	Brain Angular Gyrus	brain
27	chr1:221774200-221775400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr1:221775400-221775800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr1:221775800-221776400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr1:221776000-221776600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:221776000-221776600	Enhancers	NHDF-Ad	bronchial
32	chr1:221776000-221777200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:221776200-221776600	Enhancers	Hela-S3	cervix
34	chr1:221776600-221779400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:221776600-221779400	Weak transcription	NHDF-Ad	bronchial
36	chr1:221777200-221779000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr1:221779000-221779200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr1:221779000-221780000	Enhancers	Colon Smooth Muscle	Colon
39	chr1:221779000-221780400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:221779200-221779600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr1:221779400-221780200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:221779400-221780200	Enhancers	Brain Germinal Matrix	brain
43	chr1:221779400-221780200	Enhancers	NHDF-Ad	bronchial
44	chr1:221779600-221779800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr1:221779600-221780000	Enhancers	Adipose Nuclei	Adipose
46	chr1:221779800-221780200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:221780000-221780200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr1:221780000-221785200	Weak transcription	Colon Smooth Muscle	Colon
49	chr1:221780000-221785400	Weak transcription	Adipose Nuclei	Adipose
50	chr1:221780200-221780400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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