Variant report

Variant	nsv437561
Chromosome Location	chr7:104626690-104647571
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:17)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:104626935..104628552-chr7:105161341..105163414,2	K562	blood:
2	chr7:104626171..104628640-chr7:104635063..104636890,2	MCF-7	breast:
3	chr7:104627274..104629727-chr7:104630896..104634327,3	MCF-7	breast:
4	chr7:104647386..104649426-chr7:104699731..104702282,2	K562	blood:
5	chr7:104646792..104648750-chr7:104757505..104760148,2	K562	blood:
6	chr7:104583958..104587024-chr7:104622658..104627290,6	K562	blood:
7	chr7:104627274..104629727-chr7:104630896..104634327,3	MCF-7	breast:
8	chr7:104637895..104640816-chr7:105263916..105266780,2	K562	blood:
9	chr7:104631887..104634402-chr7:104980018..104981541,2	K562	blood:
10	chr7:104640833..104643034-chr7:104805707..104808413,2	K562	blood:
11	chr7:104584293..104587228-chr7:104624517..104626967,3	K562	blood:
12	chr6:43597416..43598189-chr7:104632031..104632779,2	NB4	blood:
13	chr7:104626171..104628640-chr7:104635063..104636890,2	MCF-7	breast:
14	chr17:59485726..59487410-chr7:104646089..104648934,2	MCF-7	breast:
15	chr7:104584259..104587185-chr7:104637074..104639032,2	K562	blood:
16	chr7:104622776..104625398-chr7:104626077..104628432,3	MCF-7	breast:
17	chr7:104580498..104582550-chr7:104638156..104639691,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SRPK2-1	chr7:104622194-104631612	NONHSAT122589
2	lnc-SRPK2-1	chr7:104630529-104631206	NONHSAT122593
3	lnc-SRPK2-1	chr7:104637584-104654636	NONHSAT122594
4	lnc-SRPK2-1	chr7:104641588-104642450	NONHSAT122593
5	lnc-SRPK2-1	chr7:104647566-104648552	NONHSAT122593
6	lnc-SRPK2-1	chr7:104639820-104640178	NONHSAT122593
7	lnc-SRPK2-1	chr7:104634419-104634740	NONHSAT122593

No data

Variant related genes	Relation type
ENSG00000146776	chromatin interactions
ENSG00000121068	chromatin interactions
ENSG00000091127	chromatin interactions
ENSG00000237513	chromatin interactions
ENSG00000135250	chromatin interactions

Extended variants
information (count: 830 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:830 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs888086	chr7:104626690-104626691	Enhancers Weak transcription Genic enhancers Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs565226263	chr7:104626707-104626708	Enhancers Weak transcription Genic enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs574791110	chr7:104626710-104626711	Enhancers Weak transcription Genic enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs117365780	chr7:104626892-104626893	Enhancers Weak transcription Genic enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs549201974	chr7:104626895-104626896	Enhancers Weak transcription Genic enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs542414659	chr7:104626930-104626931	Enhancers Weak transcription Genic enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs569126815	chr7:104626953-104626954	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs190545278	chr7:104626969-104626970	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs73716467	chr7:104626975-104626976	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs576762380	chr7:104626992-104626993	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs535819661	chr7:104627004-104627005	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs539106598	chr7:104627034-104627035	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs553238999	chr7:104627082-104627083	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs377731228	chr7:104627113-104627114	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs527400389	chr7:104627114-104627115	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs572886435	chr7:104627128-104627129	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs138782709	chr7:104627138-104627139	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs545606249	chr7:104627186-104627187	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs149362817	chr7:104627225-104627226	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs374711090	chr7:104627237-104627238	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs143650379	chr7:104627247-104627248	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs544479091	chr7:104627313-104627314	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs573016365	chr7:104627325-104627326	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs545282832	chr7:104627341-104627342	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs181173141	chr7:104627384-104627385	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs370476471	chr7:104627391-104627392	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
27	rs370090836	chr7:104627408-104627409	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs3832508	chr7:104627419-104627420	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs398095286	chr7:104627425-104627426	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs201922513	chr7:104627426-104627427	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs75042755	chr7:104627428-104627429	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs199851066	chr7:104627430-104627431	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs66904472	chr7:104627431-104627432	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs532316742	chr7:104627432-104627433	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs185668994	chr7:104627434-104627435	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs569065586	chr7:104627435-104627436	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
37	rs74496943	chr7:104627442-104627443	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs62486614	chr7:104627444-104627445	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs549798111	chr7:104627445-104627446	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs528188058	chr7:104627460-104627461	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs528827545	chr7:104627471-104627472	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs531122000	chr7:104627505-104627506	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs200844608	chr7:104627513-104627514	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs138173905	chr7:104627534-104627535	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs77751139	chr7:104627556-104627557	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs79706979	chr7:104627558-104627559	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs76539847	chr7:104627559-104627560	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs551653473	chr7:104627568-104627569	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs571873025	chr7:104627576-104627577	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs62486615	chr7:104627578-104627579	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
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
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
Breast cancer	21858162	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Prostate cancer	18632612	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	16573809	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:1618 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104625000-104626800	Weak transcription	Pancreas	Pancrea
2	chr7:104625000-104629400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:104625000-104629400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr7:104625000-104629400	Weak transcription	Esophagus	oesophagus
5	chr7:104625000-104629400	Weak transcription	Lung	lung
6	chr7:104625000-104629400	Weak transcription	Ovary	ovary
7	chr7:104625000-104629400	Weak transcription	Small Intestine	intestine
8	chr7:104625000-104631400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:104625000-104631400	Weak transcription	Spleen	Spleen
10	chr7:104625000-104633600	Weak transcription	Aorta	Aorta
11	chr7:104625000-104641200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr7:104625000-104647400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:104625200-104626800	Enhancers	Fetal Heart	heart
14	chr7:104625200-104627000	Enhancers	Brain Angular Gyrus	brain
15	chr7:104625200-104627000	Enhancers	Duodenum Mucosa	Duodenum
16	chr7:104625200-104627000	Enhancers	Fetal Intestine Small	intestine
17	chr7:104625200-104627200	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr7:104625200-104627200	Enhancers	Fetal Lung	lung
19	chr7:104625200-104627400	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr7:104625200-104627400	Enhancers	Fetal Kidney	kidney
21	chr7:104625200-104627800	Weak transcription	Fetal Muscle Trunk	muscle
22	chr7:104625200-104628000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr7:104625200-104628400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr7:104625200-104629400	Weak transcription	Fetal Stomach	stomach
25	chr7:104625200-104630600	Enhancers	Osteobl	bone
26	chr7:104625200-104631200	Enhancers	Liver	Liver
27	chr7:104625200-104643800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr7:104625400-104627200	Enhancers	Brain Cingulate Gyrus	brain
29	chr7:104625400-104627400	Enhancers	Brain Substantia Nigra	brain
30	chr7:104625400-104627600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr7:104625400-104627800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr7:104625400-104627800	Enhancers	Brain Anterior Caudate	brain
33	chr7:104625400-104628000	Enhancers	Muscle Satellite Cultured Cells	--
34	chr7:104625400-104628000	Enhancers	Colonic Mucosa	Colon
35	chr7:104625400-104629400	Weak transcription	Right Ventricle	heart
36	chr7:104625400-104629400	Weak transcription	Thymus	Thymus
37	chr7:104625400-104629400	Enhancers	NHLF	lung
38	chr7:104625400-104633200	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr7:104625400-104643000	Weak transcription	Fetal Brain Female	brain
40	chr7:104625600-104626800	Weak transcription	Primary B cells from peripheral blood	blood
41	chr7:104625600-104626800	Weak transcription	Primary T cells from cord blood	blood
42	chr7:104625600-104626800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr7:104625600-104626800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr7:104625600-104626800	Weak transcription	Placenta	Placenta
45	chr7:104625600-104627000	Genic enhancers	Primary B cells from cord blood	blood
46	chr7:104625600-104627000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr7:104625600-104627200	Enhancers	Brain Hippocampus Middle	brain
48	chr7:104625600-104627200	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr7:104625600-104627400	Enhancers	HepG2	liver
50	chr7:104625600-104627400	Genic enhancers	HSMM	muscle

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