Variant report

Variant	nsv888820
Chromosome Location	chr7:101045580-101137314
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:32)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:101006746..101007872-chr7:101054217..101055171,4	K562	blood:
2	chr7:101083724..101084446-chr7:101150709..101151315,2	MCF-7	breast:
3	chr7:101112161..101112969-chr7:101150803..101151689,2	MCF-7	breast:
4	chr7:101110378..101112867-chr7:101115903..101117438,2	K562	blood:
5	chr7:101068095..101068916-chr7:101150848..101151469,2	MCF-7	breast:
6	chr7:101006862..101007822-chr7:101083395..101084349,8	MCF-7	breast:
7	chr7:101006530..101007875-chr7:101054200..101055148,9	MCF-7	breast:
8	chr7:101067571..101069515-chr7:101079650..101082212,2	MCF-7	breast:
9	chr7:101083863..101087245-chr7:101089520..101092470,3	K562	blood:
10	chr7:101115888..101118705-chr7:101119430..101120969,2	MCF-7	breast:
11	chr7:101054216..101055052-chr7:101150685..101151359,3	MCF-7	breast:
12	chr7:101041365..101043542-chr7:101048323..101050814,2	MCF-7	breast:
13	chr7:101006995..101008302-chr7:101082934..101084354,6	MCF-7	breast:
14	chr7:101067571..101069515-chr7:101079650..101082212,2	MCF-7	breast:
15	chr7:101115888..101118705-chr7:101119430..101120969,2	MCF-7	breast:
16	chr7:101037193..101039012-chr7:101045881..101047459,2	MCF-7	breast:
17	chr7:101083863..101087245-chr7:101089520..101092470,3	K562	blood:
18	chr7:101110378..101112867-chr7:101115903..101117438,2	K562	blood:
19	chr7:101054544..101055233-chr7:101150595..101151343,2	K562	blood:
20	chr7:101131107..101133497-chr7:101133742..101135419,2	K562	blood:
21	chr7:101100607..101102049-chr7:101150824..101151606,9	MCF-7	breast:
22	chr7:101084569..101086934-chr7:101141583..101143364,2	MCF-7	breast:
23	chr7:101043147..101045492-chr7:101051053..101052921,2	K562	blood:
24	chr7:101117670..101118572-chr7:101150768..101151530,2	MCF-7	breast:
25	chr7:101100597..101102046-chr7:101150673..101151702,7	MCF-7	breast:
26	chr7:101006966..101007850-chr7:101054283..101055103,3	MCF-7	breast:
27	chr7:101131107..101133497-chr7:101133742..101135419,2	K562	blood:
28	chr12:132413848..132415692-chr7:101084473..101086964,2	MCF-7	breast:
29	chr7:101039985..101042024-chr7:101043789..101046579,2	MCF-7	breast:
30	chr7:100964942..100967208-chr7:101081876..101083958,2	MCF-7	breast:
31	chr7:100963124..100966014-chr7:101122778..101124584,2	MCF-7	breast:
32	chr7:101006939..101007476-chr7:101083770..101084337,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000177192	chromatin interactions
ENSG00000128581	chromatin interactions
ENSG00000255992	chromatin interactions

Extended variants
information (count: 3970 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:3970 , 50 per page) page: 1 2 3 4 5 6 7 ... 80

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10223928	chr7:101045580-101045581	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs151209783	chr7:101045631-101045632	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs556190206	chr7:101045657-101045658	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs141448128	chr7:101045689-101045690	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs113985586	chr7:101045690-101045691	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs545104309	chr7:101045818-101045819	Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs577613433	chr7:101045819-101045820	Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs375842932	chr7:101045824-101045825	Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs553877158	chr7:101045827-101045828	Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs541741659	chr7:101045836-101045837	Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs574916915	chr7:101045837-101045838	Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs371481288	chr7:101045882-101045883	Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs541935586	chr7:101045889-101045890	Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs563261726	chr7:101045899-101045900	Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs73179280	chr7:101045900-101045901	Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs530591818	chr7:101045901-101045902	Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs542417438	chr7:101045910-101045911	Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs561139871	chr7:101045912-101045913	Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs368908792	chr7:101045926-101045927	Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs138716177	chr7:101045927-101045928	Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs386716246	chr7:101045935-101045936	Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs551764023	chr7:101045938-101045939	Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs386716247	chr7:101045939-101045940	Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs374630832	chr7:101045942-101045943	Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs563736383	chr7:101045943-101045944	Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs202008738	chr7:101045993-101045994	Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs373650088	chr7:101045996-101045997	Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs368292327	chr7:101045998-101045999	Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs546474187	chr7:101046007-101046008	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs533181996	chr7:101046019-101046020	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs373532363	chr7:101046023-101046024	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs551383295	chr7:101046029-101046030	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs111978773	chr7:101046071-101046072	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs73179283	chr7:101046158-101046159	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs549261464	chr7:101046177-101046178	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs567893815	chr7:101046191-101046192	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs560260050	chr7:101046211-101046212	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs6969602	chr7:101046219-101046220	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs571993941	chr7:101046251-101046252	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs115105900	chr7:101046272-101046273	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs117344817	chr7:101046298-101046299	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs571999703	chr7:101046322-101046323	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs6969765	chr7:101046325-101046326	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs554459559	chr7:101046327-101046328	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs116142276	chr7:101046416-101046417	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs531551407	chr7:101046417-101046418	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs540752263	chr7:101046424-101046425	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs181552763	chr7:101046443-101046444	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs576742568	chr7:101046466-101046467	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs185804883	chr7:101046476-101046477	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Breast cancer	21509527	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:775 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101043000-101045800	Enhancers	H1 Cell Line	embryonic stem cell
2	chr7:101043000-101046800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:101044000-101045600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:101044000-101045600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:101044200-101045800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr7:101044200-101045800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:101044200-101045800	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr7:101044200-101046400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr7:101044400-101045800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:101044400-101046400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:101044800-101045600	Enhancers	HSMMtube	muscle
12	chr7:101044800-101045800	Enhancers	HepG2	liver
13	chr7:101045000-101045600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr7:101045000-101045600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr7:101045000-101045600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr7:101045000-101045600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
17	chr7:101045000-101045800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:101045000-101045800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr7:101045000-101045800	Enhancers	Fetal Lung	lung
20	chr7:101045000-101045800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr7:101045000-101045800	Enhancers	NH-A	brain
22	chr7:101045200-101045600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr7:101045200-101045800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr7:101045200-101045800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr7:101045200-101045800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr7:101045200-101045800	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
27	chr7:101045200-101045800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr7:101045200-101045800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr7:101045200-101045800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr7:101045200-101045800	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
31	chr7:101045200-101045800	Flanking Active TSS	A549	lung
32	chr7:101045200-101045800	Flanking Active TSS	Hela-S3	cervix
33	chr7:101045200-101046200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
34	chr7:101045200-101046200	Enhancers	HSMM	muscle
35	chr7:101045200-101046400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr7:101045200-101046600	Bivalent Enhancer	Fetal Muscle Leg	muscle
37	chr7:101045200-101054200	Weak transcription	Pancreas	Pancrea
38	chr7:101045400-101045600	Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr7:101045400-101045600	Bivalent Enhancer	NHLF	lung
40	chr7:101045400-101045800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr7:101045400-101045800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr7:101045400-101045800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr7:101045400-101045800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr7:101045400-101045800	Flanking Active TSS	HMEC	breast
45	chr7:101045400-101045800	Bivalent Enhancer	HUVEC	blood vessel
46	chr7:101045400-101045800	Flanking Active TSS	NHDF-Ad	bronchial
47	chr7:101045400-101045800	Flanking Active TSS	NHEK	skin
48	chr7:101045400-101045800	Flanking Active TSS	Osteobl	bone
49	chr7:101045400-101046000	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr7:101045400-101046200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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