Variant report

Variant	nsv933391
Chromosome Location	chr7:103557392-103588539
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:37)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:37 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:103581356..103582856-chr7:103585728..103588063,2	K562	blood:
2	chr7:103545125..103546646-chr7:103570304..103572979,2	K562	blood:
3	chr7:103560989..103563112-chr7:103570075..103571747,2	K562	blood:
4	chr7:103558002..103560953-chr7:103574688..103576849,2	K562	blood:
5	chr7:103558002..103560953-chr7:103574688..103576849,2	K562	blood:
6	chr7:103559740..103561344-chr7:103627840..103629599,2	K562	blood:
7	chr7:103574683..103576382-chr7:103587252..103589480,2	K562	blood:
8	chr7:103557671..103561484-chr7:103568838..103571877,3	K562	blood:
9	chr7:103567609..103572378-chr7:103572884..103577140,9	K562	blood:
10	chr7:103576100..103578480-chr7:103589685..103592644,2	K562	blood:
11	chr7:103517969..103520327-chr7:103557139..103559343,2	K562	blood:
12	chr7:103562037..103563757-chr7:103575522..103577344,2	K562	blood:
13	chr7:103575744..103578480-chr7:103589685..103593226,3	K562	blood:
14	chr7:103556407..103559071-chr7:103628860..103631394,2	K562	blood:
15	chr7:103558397..103560497-chr7:103570377..103574513,3	K562	blood:
16	chr7:103262757..103265718-chr7:103587401..103589902,2	K562	blood:
17	chr7:103559217..103561458-chr7:103602758..103604552,2	K562	blood:
18	chr7:103581356..103582856-chr7:103585728..103588063,2	K562	blood:
19	chr7:103557671..103561484-chr7:103568838..103571877,3	K562	blood:
20	chr7:103564555..103566285-chr7:103650093..103652730,2	K562	blood:
21	chr7:103574683..103576382-chr7:103587252..103589480,2	K562	blood:
22	chr7:103560989..103563112-chr7:103570075..103571747,2	K562	blood:
23	chr7:103562037..103563757-chr7:103575522..103577344,2	K562	blood:
24	chr7:103559189..103561458-chr7:103602442..103604552,3	K562	blood:
25	chr7:103558897..103560553-chr7:103751201..103753362,2	K562	blood:
26	chr7:103532058..103533775-chr7:103563141..103565632,2	K562	blood:
27	chr7:103580049..103581812-chr7:103595341..103598301,2	K562	blood:
28	chr7:103586398..103587926-chr7:103605235..103608069,2	K562	blood:
29	chr7:103559557..103561954-chr7:103587104..103589097,2	K562	blood:
30	chr7:103558397..103560497-chr7:103570377..103574513,3	K562	blood:
31	chr7:103510796..103513502-chr7:103565026..103567236,2	K562	blood:
32	chr7:103567609..103572378-chr7:103572884..103577140,9	K562	blood:
33	chr7:103559557..103561954-chr7:103587104..103589097,2	K562	blood:
34	chr7:103527274..103529840-chr7:103557277..103559784,2	K562	blood:
35	chr7:103553214..103555201-chr7:103575018..103577622,2	K562	blood:
36	chr7:103527274..103529978-chr7:103557277..103559784,3	K562	blood:
37	chr7:103561421..103564064-chr7:103629667..103633796,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000189056	chromatin interactions

Extended variants
information (count: 1287 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:1287 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111731394	chr7:103557395-103557396	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs76167481	chr7:103557450-103557451	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs373853378	chr7:103557476-103557477	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs201754586	chr7:103557525-103557526	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs564088219	chr7:103557573-103557574	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs113242008	chr7:103557613-103557614	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs368049573	chr7:103557614-103557615	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs150587706	chr7:103557629-103557630	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs561211301	chr7:103557648-103557649	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs79791706	chr7:103557649-103557650	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs546424978	chr7:103557658-103557659	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs374942020	chr7:103557668-103557669	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs2140715	chr7:103557692-103557693	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs711443	chr7:103557697-103557698	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs370105826	chr7:103557707-103557708	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs182664642	chr7:103557733-103557734	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs538219351	chr7:103557734-103557735	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs3213725	chr7:103557761-103557762	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs111462712	chr7:103557765-103557766	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs562395141	chr7:103557794-103557795	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs539106690	chr7:103557798-103557799	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs138909613	chr7:103557804-103557805	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs10272697	chr7:103557818-103557819	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs187265738	chr7:103557828-103557829	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs553624278	chr7:103557871-103557872	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs574807514	chr7:103557891-103557892	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs535957161	chr7:103557899-103557900	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs62481171	chr7:103557937-103557938	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs76144805	chr7:103557943-103557944	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs189774098	chr7:103557960-103557961	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs11412775	chr7:103557998-103557999	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs559956766	chr7:103557999-103558000	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs545834536	chr7:103558011-103558012	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs397825902	chr7:103558012-103558013	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs564024922	chr7:103558037-103558038	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs572830408	chr7:103558057-103558058	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs540010899	chr7:103558076-103558077	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs561929189	chr7:103558087-103558088	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs528933702	chr7:103558106-103558107	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs182356733	chr7:103558108-103558109	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs17269500	chr7:103558137-103558138	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs532939817	chr7:103558143-103558144	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs551422510	chr7:103558147-103558148	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs571129633	chr7:103558149-103558150	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs535350311	chr7:103558175-103558176	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs546841018	chr7:103558179-103558180	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs149398149	chr7:103558261-103558262	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs10257692	chr7:103558262-103558263	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs533363456	chr7:103558274-103558275	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs551045609	chr7:103558311-103558312	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Prostate cancer	18632612	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	19907438	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	21147910	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103556600-103558800	Enhancers	K562	blood
2	chr7:103556800-103559800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr7:103556800-103574400	Weak transcription	HepG2	liver
4	chr7:103558800-103561600	Flanking Active TSS	K562	blood
5	chr7:103559400-103560000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr7:103559600-103560200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:103559600-103560400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:103559800-103560200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr7:103559800-103560200	Enhancers	Fetal Brain Male	brain
10	chr7:103561600-103564400	Enhancers	K562	blood
11	chr7:103562000-103562400	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr7:103564400-103564800	Weak transcription	K562	blood
13	chr7:103564800-103565000	Enhancers	K562	blood
14	chr7:103565000-103571600	Weak transcription	K562	blood
15	chr7:103570200-103570800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr7:103570600-103571800	Enhancers	Fetal Brain Male	brain
17	chr7:103571600-103572200	Strong transcription	K562	blood
18	chr7:103572200-103574000	Weak transcription	K562	blood
19	chr7:103574000-103574600	Enhancers	K562	blood
20	chr7:103574400-103575400	Strong transcription	HepG2	liver
21	chr7:103574600-103590200	Weak transcription	K562	blood
22	chr7:103574800-103575400	Enhancers	Brain Anterior Caudate	brain
23	chr7:103575400-103582800	Weak transcription	HepG2	liver
24	chr7:103576800-103577400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr7:103577400-103580800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr7:103580600-103581800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr7:103580800-103581800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr7:103582800-103583200	Enhancers	HepG2	liver
29	chr7:103583200-103584800	Weak transcription	HepG2	liver
30	chr7:103584400-103584600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr7:103584800-103585400	Strong transcription	HepG2	liver
32	chr7:103584800-103596800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr7:103585400-103596000	Weak transcription	HepG2	liver
34	chr7:103587400-103588000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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