Variant report

Variant	nsv1021918
Chromosome Location	chr7:120846795-120873438
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:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:120848908..120852746-chr7:120854048..120856854,5	K562	blood:
2	chr7:120867657..120869346-chr7:120882060..120884535,2	K562	blood:
3	chr7:120841468..120846547-chr7:120846758..120854034,8	K562	blood:
4	chr7:120868481..120870338-chr7:120872297..120875239,2	K562	blood:
5	chr7:120856242..120858668-chr7:120894112..120895725,2	K562	blood:
6	chr7:120842227..120844085-chr7:120858166..120859847,2	K562	blood:
7	chr7:120858530..120860172-chr7:120865997..120868025,2	K562	blood:
8	chr7:120849619..120853631-chr7:120859182..120861121,3	K562	blood:
9	chr7:120873011..120874844-chr7:120878339..120881386,3	K562	blood:
10	chr7:120849619..120853631-chr7:120859182..120861121,3	K562	blood:
11	chr7:120848908..120852746-chr7:120854048..120856854,5	K562	blood:
12	chr7:120855438..120857964-chr7:120860983..120863737,2	K562	blood:
13	chr7:120836253..120841319-chr7:120841811..120848062,9	K562	blood:
14	chr7:120853643..120855944-chr7:120855960..120858802,3	K562	blood:
15	chr7:120870734..120873223-chr7:120882275..120885118,2	K562	blood:
16	chr7:120836283..120838682-chr7:120872699..120875576,2	K562	blood:
17	chr7:120854329..120856810-chr7:120876127..120877752,2	K562	blood:
18	chr7:120868481..120870338-chr7:120872297..120875239,2	K562	blood:
19	chr7:120848400..120850146-chr7:120867197..120869985,2	K562	blood:
20	chr7:120858530..120860172-chr7:120865997..120868025,2	K562	blood:
21	chr7:120848400..120850146-chr7:120867197..120869985,2	K562	blood:
22	chr7:120865025..120867701-chr7:120877950..120880426,2	K562	blood:
23	chr7:120853643..120855944-chr7:120855960..120858802,3	K562	blood:
24	chr7:120865059..120868027-chr7:120873539..120876045,2	K562	blood:
25	chr7:120855438..120857964-chr7:120860983..120863737,2	K562	blood:

No data

Extended variants
information (count: 914 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:914 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145609223	chr7:120846795-120846796	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs147574157	chr7:120846796-120846797	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371570123	chr7:120846806-120846807	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs527929216	chr7:120846839-120846840	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs117348625	chr7:120846903-120846904	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs140694356	chr7:120846926-120846927	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533329851	chr7:120846933-120846934	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549921994	chr7:120846954-120846955	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569131272	chr7:120847012-120847013	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187815474	chr7:120847013-120847014	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548548534	chr7:120847043-120847044	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189944893	chr7:120847058-120847059	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534009241	chr7:120847065-120847066	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553806802	chr7:120847095-120847096	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570477902	chr7:120847109-120847110	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376225392	chr7:120847124-120847125	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182148477	chr7:120847152-120847153	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369284816	chr7:120847154-120847155	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571524248	chr7:120847202-120847203	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs117109838	chr7:120847206-120847207	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576284710	chr7:120847254-120847255	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188023744	chr7:120847272-120847273	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555682686	chr7:120847329-120847330	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572290266	chr7:120847330-120847331	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563226599	chr7:120847409-120847410	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs150122028	chr7:120847425-120847426	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145525588	chr7:120847443-120847444	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192821395	chr7:120847485-120847486	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373746238	chr7:120847542-120847543	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs79853324	chr7:120847545-120847546	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184752024	chr7:120847546-120847547	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7782668	chr7:120847595-120847596	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs548485103	chr7:120847669-120847670	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568389084	chr7:120847703-120847704	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527456189	chr7:120847707-120847708	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188793289	chr7:120847752-120847753	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572898954	chr7:120847844-120847845	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375779767	chr7:120847903-120847904	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs59114124	chr7:120847992-120847993	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570489000	chr7:120848007-120848008	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539165155	chr7:120848061-120848062	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555889059	chr7:120848083-120848084	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191998813	chr7:120848093-120848094	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535114233	chr7:120848114-120848115	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148842132	chr7:120848146-120848147	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572420617	chr7:120848165-120848166	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541572726	chr7:120848173-120848174	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs76778785	chr7:120848233-120848234	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs369390383	chr7:120848245-120848246	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs137973976	chr7:120848277-120848278	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	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
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
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	21115979	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120819200-120861000	Strong transcription	K562	blood
2	chr7:120823600-120874800	Weak transcription	NHLF	lung
3	chr7:120836200-120851400	Weak transcription	Ovary	ovary
4	chr7:120836400-120851400	Weak transcription	Colon Smooth Muscle	Colon
5	chr7:120836400-120851600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr7:120836400-120851600	Weak transcription	Right Ventricle	heart
7	chr7:120836400-120851600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr7:120836600-120851400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr7:120836800-120858200	Weak transcription	Adipose Nuclei	Adipose
10	chr7:120842600-120877600	Weak transcription	Aorta	Aorta
11	chr7:120844200-120877200	Weak transcription	Liver	Liver
12	chr7:120844800-120851400	Weak transcription	Left Ventricle	heart
13	chr7:120844800-120851600	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr7:120844800-120881600	Weak transcription	HSMMtube	muscle
15	chr7:120845800-120846800	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr7:120846200-120851200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr7:120846200-120854600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr7:120846600-120847400	Weak transcription	HSMM	muscle
19	chr7:120847400-120848800	Strong transcription	HSMM	muscle
20	chr7:120848800-120856200	Weak transcription	HSMM	muscle
21	chr7:120851200-120852400	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr7:120851400-120851800	Enhancers	Left Ventricle	heart
23	chr7:120851400-120852200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr7:120851400-120852600	Enhancers	Ovary	ovary
25	chr7:120851400-120854200	Enhancers	Colon Smooth Muscle	Colon
26	chr7:120851600-120851800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr7:120851600-120852200	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr7:120851600-120852400	Enhancers	Right Atrium	heart
29	chr7:120851600-120852600	Enhancers	Right Ventricle	heart
30	chr7:120851600-120852600	Enhancers	Stomach Smooth Muscle	stomach
31	chr7:120851600-120853200	Enhancers	Fetal Lung	lung
32	chr7:120851600-120855400	Enhancers	NHDF-Ad	bronchial
33	chr7:120851800-120852400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr7:120851800-120877600	Weak transcription	Left Ventricle	heart
35	chr7:120852000-120852200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr7:120852400-120854600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr7:120852400-120855200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr7:120853800-120856600	Weak transcription	Fetal Kidney	kidney
39	chr7:120854600-120855200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr7:120854600-120855400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr7:120855400-120859200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr7:120856200-120857600	Strong transcription	HSMM	muscle
43	chr7:120857600-120866400	Weak transcription	HSMM	muscle
44	chr7:120858400-120859800	Enhancers	Dnd41	blood
45	chr7:120859200-120859600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr7:120861000-120866400	Weak transcription	K562	blood
47	chr7:120863000-120884200	Weak transcription	Primary B cells from peripheral blood	blood
48	chr7:120863800-120877600	Weak transcription	Ovary	ovary
49	chr7:120864000-120872200	Weak transcription	Psoas Muscle	Psoas
50	chr7:120866000-120870200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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