Variant report

Variant	nsv981572
Chromosome Location	chr7:120690961-120692657
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HMGN3	chr7:120690794-120690980	K562	blood:	n/a	n/a
2	JUN	chr7:120691169-120691242	K562	blood:	n/a	n/a
3	POLR2A	chr7:120692497-120692809	K562	blood:	n/a	n/a
4	POLR2A	chr7:120692037-120693001	K562	blood:	n/a	n/a
5	POLR2A	chr7:120690422-120691398	K562	blood:	n/a	n/a
6	POLR2A	chr7:120692310-120693000	K562	blood:	n/a	n/a
7	POLR2A	chr7:120692216-120693079	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:120685095..120691151-chr7:120712234..120720635,10	K562	blood:
2	chr7:120692653..120696514-chr7:120719994..120724840,4	K562	blood:
3	chr7:120689743..120691904-chr7:120700225..120703183,2	K562	blood:
4	chr7:120682875..120684877-chr7:120691015..120693627,2	K562	blood:
5	chr7:120688479..120691904-chr7:120692456..120696539,4	K562	blood:
6	chr7:120691054..120694014-chr7:120698104..120700209,3	K562	blood:
7	chr7:120692179..120694802-chr7:120701783..120703966,2	K562	blood:
8	chr7:120692006..120694534-chr7:120721905..120723814,2	K562	blood:

No data

Variant related genes	Relation type
HMGN1P18	TF binding region
ENSG00000106034	chromatin interactions
ENSG00000234927	chromatin interactions
ENSG00000212628	chromatin interactions

Extended variants
information (count: 46 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs56048646	chr7:120690973-120690974	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs61754957	chr7:120691016-120691017	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs555916959	chr7:120691021-120691022	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs142375801	chr7:120691058-120691059	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs188252032	chr7:120691059-120691060	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs372618283	chr7:120691060-120691061	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs115237514	chr7:120691192-120691193	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs573520269	chr7:120691220-120691221	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs190804260	chr7:120691236-120691237	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs182982197	chr7:120691252-120691253	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs575695890	chr7:120691262-120691263	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs151261891	chr7:120691288-120691289	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs56319795	chr7:120691304-120691305	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs561389390	chr7:120691306-120691307	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs188001140	chr7:120691362-120691363	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs192428975	chr7:120691404-120691405	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs533613774	chr7:120691406-120691407	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs35482486	chr7:120691424-120691425	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs398006041	chr7:120691436-120691437	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs559275201	chr7:120691458-120691459	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs551274465	chr7:120691491-120691492	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs568382000	chr7:120691507-120691508	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs184534642	chr7:120691629-120691630	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs551368120	chr7:120691723-120691724	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs140555036	chr7:120691756-120691757	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs530443908	chr7:120691838-120691839	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs374604890	chr7:120691880-120691881	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs550113062	chr7:120691904-120691905	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs567032404	chr7:120691930-120691931	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200533558	chr7:120692019-120692020	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs147079063	chr7:120692103-120692104	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs147751372	chr7:120692116-120692117	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs368743875	chr7:120692131-120692132	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs571318902	chr7:120692228-120692229	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs539355227	chr7:120692312-120692313	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs559308456	chr7:120692337-120692338	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs6466764	chr7:120692363-120692364	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs2721331	chr7:120692384-120692385	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs554965390	chr7:120692391-120692392	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs376286646	chr7:120692421-120692422	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs112475037	chr7:120692435-120692436	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs142659016	chr7:120692467-120692468	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs187452269	chr7:120692471-120692472	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs192913193	chr7:120692515-120692516	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs184954265	chr7:120692556-120692557	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs545158084	chr7:120692627-120692628	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	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	22522925	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120673800-120694200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr7:120682200-120695800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr7:120682400-120719600	Weak transcription	Fetal Lung	lung
4	chr7:120682600-120692000	Weak transcription	Fetal Stomach	stomach
5	chr7:120682800-120700800	Weak transcription	Fetal Kidney	kidney
6	chr7:120684000-120694000	Weak transcription	Small Intestine	intestine
7	chr7:120687800-120706600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr7:120689000-120691200	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr7:120689200-120691200	Enhancers	Liver	Liver
10	chr7:120689200-120691200	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr7:120689400-120691000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr7:120689400-120691200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:120689400-120691200	Enhancers	Hela-S3	cervix
14	chr7:120689600-120691000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr7:120689600-120709400	Weak transcription	HSMMtube	muscle
16	chr7:120689800-120698200	Weak transcription	Spleen	Spleen
17	chr7:120690000-120691000	Enhancers	Placenta	Placenta
18	chr7:120690000-120691000	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr7:120690200-120692000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr7:120690200-120696200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr7:120690200-120709000	Weak transcription	Right Ventricle	heart
22	chr7:120690200-120709400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr7:120690400-120691400	Genic enhancers	K562	blood
24	chr7:120690400-120692200	Weak transcription	HSMM	muscle
25	chr7:120690400-120693200	Weak transcription	Fetal Heart	heart
26	chr7:120690400-120694000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr7:120690400-120704200	Weak transcription	Colon Smooth Muscle	Colon
28	chr7:120690400-120704400	Weak transcription	NHDF-Ad	bronchial
29	chr7:120690400-120709000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr7:120690600-120691200	Enhancers	Psoas Muscle	Psoas
31	chr7:120690600-120709200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr7:120690800-120691000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr7:120690800-120691000	Genic enhancers	Aorta	Aorta
34	chr7:120690800-120691000	Genic enhancers	Left Ventricle	heart
35	chr7:120690800-120691000	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr7:120690800-120691200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr7:120690800-120691200	Genic enhancers	Adipose Nuclei	Adipose
38	chr7:120690800-120691200	Strong transcription	NHLF	lung
39	chr7:120690800-120693000	Strong transcription	Ovary	ovary
40	chr7:120691000-120691200	Enhancers	Aorta	Aorta
41	chr7:120691000-120691200	Strong transcription	Left Ventricle	heart
42	chr7:120691000-120693400	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr7:120691200-120692000	Weak transcription	Left Ventricle	heart
44	chr7:120691200-120692000	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr7:120691200-120692200	Weak transcription	Psoas Muscle	Psoas
46	chr7:120691200-120694000	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr7:120691200-120696200	Weak transcription	NHLF	lung
48	chr7:120691200-120702000	Weak transcription	Liver	Liver
49	chr7:120691200-120703400	Weak transcription	Aorta	Aorta
50	chr7:120691200-120709000	Weak transcription	Adipose Nuclei	Adipose

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