Variant report

Variant	nsv607985
Chromosome Location	chr7:101683563-101718950
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:24)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:101688104..101690930-chr7:101693641..101697108,3	MCF-7	breast:
2	chr7:101717039..101718587-chr7:101722028..101724096,2	K562	blood:
3	chr20:60639525..60641886-chr7:101687189..101690169,2	MCF-7	breast:
4	chr7:101706528..101709517-chr7:101721356..101724154,2	K562	blood:
5	chr20:60640086..60642079-chr7:101687169..101688689,3	MCF-7	breast:
6	chr7:101619172..101621456-chr7:101707365..101710139,2	MCF-7	breast:
7	chr7:101698449..101701130-chr7:101703905..101706013,2	MCF-7	breast:
8	chr7:101705153..101708097-chr7:101711212..101713863,3	K562	blood:
9	chr7:101711827..101713959-chr7:101721934..101723640,2	MCF-7	breast:
10	chr7:101459264..101462006-chr7:101705742..101707719,3	MCF-7	breast:
11	chr7:101698449..101701130-chr7:101703905..101706013,2	MCF-7	breast:
12	chr20:60641089..60641822-chr7:101688169..101689168,2	MCF-7	breast:
13	chr7:101705153..101708097-chr7:101711212..101713863,3	K562	blood:
14	chr7:101458190..101460276-chr7:101714926..101717278,2	MCF-7	breast:
15	chr7:101714618..101716538-chr7:101724031..101725533,2	K562	blood:
16	chr7:101459310..101462268-chr7:101682411..101685217,4	MCF-7	breast:
17	chr20:60640319..60642125-chr7:101687169..101688689,2	K562	blood:
18	chr7:101714618..101716441-chr7:101723476..101725531,2	K562	blood:
19	chr7:101688104..101690930-chr7:101693641..101697108,3	MCF-7	breast:
20	chr7:101715723..101719126-chr7:101720326..101723914,4	K562	blood:
21	chr7:101647281..101648020-chr7:101707540..101708409,2	MCF-7	breast:
22	chr7:101652466..101655257-chr7:101700349..101702104,2	MCF-7	breast:
23	chr7:101704873..101706493-chr7:101731658..101734496,2	K562	blood:
24	chr7:101462493..101465700-chr7:101703860..101705566,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SH2B2-5	chr7:101685040-101688225	ucscGeneNc_uc003uyy_2

No data

Variant related genes	Relation type
ENSG00000130699	chromatin interactions
ENSG00000265306	chromatin interactions
ENSG00000257923	chromatin interactions

Extended variants
information (count: 1466 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:1466 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11971570	chr7:101683563-101683564	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs542033548	chr7:101683564-101683565	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs77781345	chr7:101683587-101683588	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs376567524	chr7:101683654-101683655	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs111663876	chr7:101683691-101683692	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs191574283	chr7:101683723-101683724	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs184248485	chr7:101683737-101683738	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs577020276	chr7:101683753-101683754	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs367804566	chr7:101683802-101683803	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs549657578	chr7:101683836-101683837	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs571213457	chr7:101683867-101683868	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs189955569	chr7:101683877-101683878	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs554089159	chr7:101683894-101683895	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs138665876	chr7:101683904-101683905	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs536420440	chr7:101683965-101683966	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs554811099	chr7:101683995-101683996	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs574002509	chr7:101684013-101684014	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs181350441	chr7:101684018-101684019	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs557043447	chr7:101684026-101684027	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs186359987	chr7:101684067-101684068	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs149291324	chr7:101684117-101684118	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs368673380	chr7:101684153-101684154	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs11761801	chr7:101684179-101684180	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs527991973	chr7:101684188-101684189	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs549120109	chr7:101684194-101684195	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs190019712	chr7:101684199-101684200	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs575707275	chr7:101684210-101684211	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs542738652	chr7:101684217-101684218	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs561493934	chr7:101684218-101684219	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs181549368	chr7:101684220-101684221	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs373284290	chr7:101684237-101684238	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs6973898	chr7:101684301-101684302	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs186429674	chr7:101684304-101684305	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs190831392	chr7:101684404-101684405	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs13227342	chr7:101684411-101684412	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs552207636	chr7:101684412-101684413	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs565941735	chr7:101684422-101684423	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs536551477	chr7:101684470-101684471	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs116450255	chr7:101684500-101684501	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs144532269	chr7:101684535-101684536	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs77401353	chr7:101684538-101684539	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs11427183	chr7:101684555-101684556	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs536881390	chr7:101684593-101684594	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs6973996	chr7:101684609-101684610	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs111342720	chr7:101684621-101684622	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs578048764	chr7:101684635-101684636	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs373095033	chr7:101684637-101684638	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs544967443	chr7:101684638-101684639	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs112822023	chr7:101684683-101684684	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs186052049	chr7:101684695-101684696	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	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
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
Cancer	19907438	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:1252 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101642800-101697600	Weak transcription	Primary B cells from cord blood	blood
2	chr7:101648200-101688000	Weak transcription	Ovary	ovary
3	chr7:101652800-101688400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr7:101653000-101688200	Weak transcription	Colonic Mucosa	Colon
5	chr7:101653200-101685200	Weak transcription	HSMMtube	muscle
6	chr7:101656000-101689200	Weak transcription	Aorta	Aorta
7	chr7:101665600-101688000	Weak transcription	Brain Angular Gyrus	brain
8	chr7:101667200-101688200	Weak transcription	Brain Substantia Nigra	brain
9	chr7:101667600-101685200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr7:101667600-101685200	Weak transcription	NH-A	brain
11	chr7:101667600-101688000	Weak transcription	Brain Anterior Caudate	brain
12	chr7:101667600-101688000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr7:101667600-101688200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr7:101667600-101688400	Weak transcription	Fetal Brain Female	brain
15	chr7:101668000-101707200	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr7:101668200-101688000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr7:101668600-101694200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr7:101671800-101688000	Weak transcription	Primary hematopoietic stem cells	blood
19	chr7:101671800-101688400	Weak transcription	Fetal Brain Male	brain
20	chr7:101672000-101685200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr7:101672000-101685400	Weak transcription	NHEK	skin
22	chr7:101672000-101688000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr7:101672200-101685200	Weak transcription	A549	lung
24	chr7:101672200-101688000	Weak transcription	Primary B cells from peripheral blood	blood
25	chr7:101672200-101692200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr7:101672200-101697000	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr7:101672400-101685200	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr7:101672400-101694000	Weak transcription	Primary T cells from cord blood	blood
29	chr7:101672400-101697200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr7:101673000-101687800	Weak transcription	Fetal Lung	lung
31	chr7:101673000-101688200	Weak transcription	Brain Cingulate Gyrus	brain
32	chr7:101673000-101689200	Weak transcription	Spleen	Spleen
33	chr7:101673200-101685200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr7:101673200-101685200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr7:101673200-101685200	Weak transcription	Gastric	stomach
36	chr7:101673200-101685400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr7:101673200-101688000	Weak transcription	Colon Smooth Muscle	Colon
38	chr7:101673200-101688000	Weak transcription	Stomach Smooth Muscle	stomach
39	chr7:101673200-101688200	Weak transcription	Duodenum Mucosa	Duodenum
40	chr7:101673200-101689200	Weak transcription	Pancreas	Pancrea
41	chr7:101673200-101692800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr7:101673200-101694200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr7:101673400-101688000	Weak transcription	Adipose Nuclei	Adipose
44	chr7:101673600-101688000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr7:101674200-101707400	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr7:101674400-101685200	Weak transcription	HepG2	liver
47	chr7:101674400-101688200	Weak transcription	Lung	lung
48	chr7:101674400-101696800	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr7:101674400-101697000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr7:101674800-101692600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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