Variant report

Variant	nsv818543
Chromosome Location	chr7:103616877-103621132
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:103615700..103617904-chr7:103624875..103627685,2	K562	blood:
2	chr7:103613869..103617396-chr7:103618211..103621062,5	K562	blood:
3	chr7:103613869..103617396-chr7:103618211..103621062,5	K562	blood:
4	chr7:103611355..103613158-chr7:103620121..103621659,2	K562	blood:
5	chr7:103616782..103619011-chr7:103621553..103623443,3	K562	blood:
6	chr7:103613869..103617375-chr7:103618184..103621062,4	K562	blood:
7	chr7:103617963..103619815-chr7:103628393..103630501,2	K562	blood:
8	chr7:103613869..103617375-chr7:103618184..103621062,4	K562	blood:
9	chr7:103364749..103367495-chr7:103619715..103622502,2	K562	blood:
10	chr7:103613493..103616473-chr7:103616501..103618133,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000189056	chromatin interactions

Extended variants
information (count: 183 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:183 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7787675	chr7:103616877-103616878	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs7787670	chr7:103616904-103616905	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs117550039	chr7:103616909-103616910	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183641218	chr7:103616934-103616935	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564675420	chr7:103616953-103616954	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528686231	chr7:103616954-103616955	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564930850	chr7:103616975-103616976	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs138276832	chr7:103617002-103617003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576900760	chr7:103617005-103617006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562160596	chr7:103617011-103617012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529435742	chr7:103617016-103617017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188302676	chr7:103617062-103617063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376964280	chr7:103617158-103617159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540975044	chr7:103617179-103617180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142766931	chr7:103617186-103617187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200972356	chr7:103617251-103617252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371381454	chr7:103617297-103617298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73185407	chr7:103617309-103617310	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs35695823	chr7:103617360-103617361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566622274	chr7:103617375-103617376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182385488	chr7:103617445-103617446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555192327	chr7:103617451-103617452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187320623	chr7:103617484-103617485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567078637	chr7:103617539-103617540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527362265	chr7:103617545-103617546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377642395	chr7:103617587-103617588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146051659	chr7:103617630-103617631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190175794	chr7:103617631-103617632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546434817	chr7:103617653-103617654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558157119	chr7:103617655-103617656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573526594	chr7:103617673-103617674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570332529	chr7:103617735-103617736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370391790	chr7:103617758-103617759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs74539604	chr7:103617783-103617784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs78343973	chr7:103617788-103617789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540449146	chr7:103617795-103617796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs73713203	chr7:103617868-103617869	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs575336812	chr7:103617891-103617892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7455114	chr7:103617899-103617900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181772103	chr7:103617900-103617901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141595192	chr7:103617947-103617948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs150899125	chr7:103617960-103617961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs139383827	chr7:103617965-103617966	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs185599261	chr7:103617971-103617972	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs190259931	chr7:103617982-103617983	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs17157826	chr7:103617997-103617998	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs548752420	chr7:103618004-103618005	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs567140851	chr7:103618009-103618010	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs555748282	chr7:103618059-103618060	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs9918549	chr7:103618095-103618096	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	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
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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103609000-103621400	Weak transcription	HepG2	liver
2	chr7:103613800-103627800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr7:103616400-103617000	Strong transcription	K562	blood
4	chr7:103617000-103621000	Weak transcription	K562	blood
5	chr7:103621000-103622400	Genic enhancers	K562	blood

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