Variant report

Variant	nsv523626
Chromosome Location	chr7:120738269-120763212
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:63)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:63 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:120743098..120745031-chr7:120746646..120748514,3	K562	blood:
2	chr7:120756984..120759314-chr7:120759581..120762409,4	K562	blood:
3	chr7:120736484..120739000-chr7:120756875..120758692,2	K562	blood:
4	chr7:120739177..120742283-chr7:120745711..120747787,4	K562	blood:
5	chr7:120736479..120739918-chr7:120741792..120745937,5	K562	blood:
6	chr7:120742066..120745673-chr7:120758680..120764316,5	K562	blood:
7	chr7:120742066..120743891-chr7:120758680..120761342,2	K562	blood:
8	chr7:120589647..120592092-chr7:120755972..120758448,2	K562	blood:
9	chr7:120762968..120765297-chr7:120774508..120778182,3	K562	blood:
10	chr7:120734442..120735992-chr7:120738253..120740799,2	K562	blood:
11	chr7:120721836..120724207-chr7:120744772..120746398,2	K562	blood:
12	chr7:120736484..120739000-chr7:120756875..120758692,2	K562	blood:
13	chr7:120750275..120752757-chr7:120754885..120757852,3	K562	blood:
14	chr7:120742066..120745673-chr7:120758680..120764316,5	K562	blood:
15	chr7:120729541..120731923-chr7:120745410..120747271,2	K562	blood:
16	chr7:120753655..120756147-chr7:120756373..120757912,2	K562	blood:
17	chr7:120627349..120628383-chr7:120747676..120749167,11	K562	blood:
18	chr7:120711582..120714500-chr7:120752923..120755177,2	K562	blood:
19	chr7:120431798..120432733-chr7:120748046..120748607,2	K562	blood:
20	chr7:120748117..120751439-chr7:120760191..120762453,3	K562	blood:
21	chr7:120739177..120742283-chr7:120745711..120747787,4	K562	blood:
22	chr7:120753655..120756147-chr7:120756373..120757912,2	K562	blood:
23	chr7:120741938..120744145-chr7:120762816..120764575,2	K562	blood:
24	chr7:120739132..120740761-chr7:120746818..120749642,2	K562	blood:
25	chr7:120561753..120563679-chr7:120747463..120748993,2	K562	blood:
26	chr7:120736411..120739349-chr7:120753107..120754976,2	K562	blood:
27	chr7:120756984..120759314-chr7:120759581..120762409,4	K562	blood:
28	chr7:120747233..120749938-chr7:120774365..120776379,3	K562	blood:
29	chr7:120748117..120751439-chr7:120760191..120762453,3	K562	blood:
30	chr7:120627455..120628301-chr7:120739372..120740291,3	MCF-7	breast:
31	chr7:120658657..120661112-chr7:120743405..120745049,2	K562	blood:
32	chr7:120750275..120752757-chr7:120754885..120757852,3	K562	blood:
33	chr7:120743098..120745031-chr7:120746646..120748514,3	K562	blood:
34	chr7:120745709..120748191-chr7:120751470..120754629,3	K562	blood:
35	chr7:120745612..120749676-chr7:120751128..120754629,5	K562	blood:
36	chr7:120626686..120628740-chr7:120746587..120749245,2	K562	blood:
37	chr7:120635913..120636486-chr7:120747716..120748711,2	K562	blood:
38	chr7:120736479..120739918-chr7:120741792..120745937,5	K562	blood:
39	chr7:120598328..120601764-chr7:120747067..120750480,4	K562	blood:
40	chr7:120756476..120758682-chr7:120764326..120765844,2	K562	blood:
41	chr7:120735763..120738966-chr7:120742400..120745937,3	K562	blood:
42	chr7:120745612..120749676-chr7:120751128..120754629,5	K562	blood:
43	chr7:120742925..120745417-chr7:121034173..121036803,3	K562	blood:
44	chr7:120590369..120591908-chr7:120749449..120751566,2	K562	blood:
45	chr7:120735763..120738966-chr7:120742400..120745937,3	K562	blood:
46	chr7:120741938..120744145-chr7:120762816..120764575,2	K562	blood:
47	chr7:120745709..120748191-chr7:120751470..120754629,3	K562	blood:
48	chr7:120756814..120759282-chr7:120768929..120771906,2	K562	blood:
49	chr7:120744759..120747111-chr7:120748384..120750272,2	K562	blood:
50	chr7:120628746..120630644-chr7:120748164..120750985,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000196937	chromatin interactions
ENSG00000106034	chromatin interactions
ENSG00000212628	chromatin interactions
ENSG00000071243	chromatin interactions

Extended variants
information (count: 905 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:905 , 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	rs1005400	chr7:120738269-120738270	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs191538919	chr7:120738294-120738295	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565411934	chr7:120738314-120738315	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138579240	chr7:120738470-120738471	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs528582796	chr7:120738586-120738587	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184368057	chr7:120738588-120738589	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149334572	chr7:120738619-120738620	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188750698	chr7:120738653-120738654	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549693859	chr7:120738684-120738685	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569613047	chr7:120738713-120738714	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535989297	chr7:120738722-120738723	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192062791	chr7:120738745-120738746	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571010302	chr7:120738767-120738768	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201923605	chr7:120738796-120738797	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs59572121	chr7:120738798-120738799	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs398067221	chr7:120738799-120738800	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs1974658	chr7:120738801-120738802	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200540790	chr7:120738804-120738805	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200425163	chr7:120738806-120738807	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1974659	chr7:120738809-120738810	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs9719284	chr7:120738811-120738812	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7456211	chr7:120738817-120738818	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7458262	chr7:120738821-120738822	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs72282026	chr7:120738822-120738823	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7456213	chr7:120738823-120738824	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs13239347	chr7:120738827-120738828	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7456214	chr7:120738829-120738830	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs35927005	chr7:120738831-120738832	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs59581020	chr7:120738833-120738834	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs13224852	chr7:120738835-120738836	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs1973796	chr7:120738837-120738838	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs71544802	chr7:120738843-120738844	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs5887012	chr7:120738844-120738845	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs798935	chr7:120738845-120738846	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs9718910	chr7:120738849-120738850	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs7456215	chr7:120738851-120738852	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs13308980	chr7:120738855-120738856	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs7458264	chr7:120738857-120738858	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs7456216	chr7:120738861-120738862	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs7456217	chr7:120738874-120738875	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs7458268	chr7:120738880-120738881	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs7456218	chr7:120738886-120738887	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs565308870	chr7:120738890-120738891	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs7458269	chr7:120738892-120738893	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs148299725	chr7:120738897-120738898	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs550449617	chr7:120738899-120738900	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs557815351	chr7:120739074-120739075	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs185694811	chr7:120739139-120739140	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs190551528	chr7:120739177-120739178	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs180954888	chr7:120739215-120739216	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Cancer	20164919	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:230 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120711400-120790600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr7:120724400-120739800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr7:120725400-120739600	Weak transcription	Left Ventricle	heart
4	chr7:120725800-120744400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr7:120725800-120761800	Weak transcription	Fetal Stomach	stomach
6	chr7:120727200-120739800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr7:120727600-120739800	Weak transcription	Osteobl	bone
8	chr7:120727600-120740000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:120727800-120739800	Weak transcription	NHLF	lung
10	chr7:120727800-120756400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr7:120728200-120739800	Weak transcription	Adipose Nuclei	Adipose
12	chr7:120728600-120741600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr7:120730400-120739600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:120730400-120739800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr7:120730400-120739800	Weak transcription	NHDF-Ad	bronchial
16	chr7:120731200-120747800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr7:120733000-120747800	Weak transcription	Spleen	Spleen
18	chr7:120733600-120741600	Weak transcription	Ovary	ovary
19	chr7:120733800-120739800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr7:120733800-120741600	Weak transcription	Psoas Muscle	Psoas
21	chr7:120734000-120741800	Strong transcription	K562	blood
22	chr7:120734800-120739600	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr7:120735400-120741600	Weak transcription	Aorta	Aorta
24	chr7:120735400-120784000	Weak transcription	Right Ventricle	heart
25	chr7:120737400-120747400	Strong transcription	Liver	Liver
26	chr7:120737600-120739600	Weak transcription	HSMM	muscle
27	chr7:120737800-120740000	Weak transcription	Colon Smooth Muscle	Colon
28	chr7:120737800-120740000	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr7:120738000-120740000	Weak transcription	Fetal Lung	lung
30	chr7:120738000-120741000	Weak transcription	HSMMtube	muscle
31	chr7:120738000-120742400	Weak transcription	Fetal Kidney	kidney
32	chr7:120738000-120745000	Weak transcription	Rectal Smooth Muscle	rectum
33	chr7:120738200-120749200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr7:120738800-120743600	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr7:120739000-120741400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr7:120739000-120741600	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr7:120739200-120742800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr7:120739600-120740200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr7:120739600-120740400	Strong transcription	Left Ventricle	heart
40	chr7:120739600-120741200	Strong transcription	Skeletal Muscle Male	skeletal muscle
41	chr7:120739600-120746400	Strong transcription	HSMM	muscle
42	chr7:120739800-120740000	Enhancers	H1 Cell Line	embryonic stem cell
43	chr7:120739800-120740400	Strong transcription	Osteobl	bone
44	chr7:120739800-120740600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr7:120739800-120740600	Strong transcription	NHLF	lung
46	chr7:120739800-120740800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr7:120739800-120742600	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr7:120739800-120742800	Strong transcription	Stomach Smooth Muscle	stomach
49	chr7:120739800-120742800	Strong transcription	NHDF-Ad	bronchial
50	chr7:120739800-120743800	Strong transcription	Adipose Nuclei	Adipose

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