Variant report

Variant	nsv437995
Chromosome Location	chr7:104632980-104641241
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:7)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:104627274..104629727-chr7:104630896..104634327,3	MCF-7	breast:
2	chr7:104631887..104634402-chr7:104980018..104981541,2	K562	blood:
3	chr7:104626171..104628640-chr7:104635063..104636890,2	MCF-7	breast:
4	chr7:104637895..104640816-chr7:105263916..105266780,2	K562	blood:
5	chr7:104584259..104587185-chr7:104637074..104639032,2	K562	blood:
6	chr7:104640833..104643034-chr7:104805707..104808413,2	K562	blood:
7	chr7:104580498..104582550-chr7:104638156..104639691,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SRPK2-1	chr7:104634419-104634740	NONHSAT122593
2	lnc-SRPK2-1	chr7:104639820-104640178	NONHSAT122593
3	lnc-SRPK2-1	chr7:104637584-104654636	NONHSAT122594

No data

Variant related genes	Relation type
ENSG00000237513	chromatin interactions
ENSG00000146776	chromatin interactions

Extended variants
information (count: 299 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:299 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6976394	chr7:104632980-104632981	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs73716469	chr7:104632983-104632984	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs375541823	chr7:104633004-104633005	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs576827246	chr7:104633040-104633041	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs17721061	chr7:104633076-104633077	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs552866265	chr7:104633290-104633291	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573090725	chr7:104633319-104633320	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs56361562	chr7:104633331-104633332	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs145577406	chr7:104633345-104633346	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557499893	chr7:104633374-104633375	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530925775	chr7:104633413-104633414	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs77796494	chr7:104633446-104633447	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564514520	chr7:104633453-104633454	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs113857322	chr7:104633460-104633461	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs117562424	chr7:104633472-104633473	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs547092814	chr7:104633503-104633504	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566687438	chr7:104633517-104633518	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs190550613	chr7:104633553-104633554	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559435767	chr7:104633570-104633571	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs148867910	chr7:104633575-104633576	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs569254083	chr7:104633577-104633578	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs538542086	chr7:104633579-104633580	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556640818	chr7:104633600-104633601	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs547916305	chr7:104633663-104633664	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs539128997	chr7:104633723-104633724	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs551172336	chr7:104633749-104633750	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs563111591	chr7:104633795-104633796	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs573053910	chr7:104633808-104633809	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs531716285	chr7:104633817-104633818	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs144332936	chr7:104633820-104633821	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs555691501	chr7:104633832-104633833	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs569389083	chr7:104633897-104633898	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs544497277	chr7:104633915-104633916	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs564294168	chr7:104633942-104633943	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs533376534	chr7:104633966-104633967	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs540354215	chr7:104634075-104634076	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs375947578	chr7:104634096-104634097	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs374212198	chr7:104634117-104634118	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs529440441	chr7:104634122-104634123	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549128155	chr7:104634127-104634128	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs562748640	chr7:104634129-104634130	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs377132459	chr7:104634203-104634204	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs552069364	chr7:104634238-104634239	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs570338648	chr7:104634240-104634241	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs539448787	chr7:104634242-104634243	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs546715659	chr7:104634255-104634256	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs566612970	chr7:104634268-104634269	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs183144031	chr7:104634308-104634309	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs200226701	chr7:104634332-104634333	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs555553237	chr7:104634487-104634488	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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

Chromatin state (count:566 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104625000-104633600	Weak transcription	Aorta	Aorta
2	chr7:104625000-104641200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:104625000-104647400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:104625200-104643800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:104625400-104633200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr7:104625400-104643000	Weak transcription	Fetal Brain Female	brain
7	chr7:104625600-104636400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:104625800-104641200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr7:104626200-104636200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr7:104626200-104641600	Weak transcription	Brain Germinal Matrix	brain
11	chr7:104626400-104639600	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr7:104627000-104634200	Weak transcription	Brain Angular Gyrus	brain
13	chr7:104627000-104641000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr7:104627200-104638400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr7:104627400-104634000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr7:104627400-104634800	Weak transcription	Brain Substantia Nigra	brain
17	chr7:104627400-104643600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:104627800-104637600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr7:104628600-104633000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr7:104628600-104634000	Weak transcription	Brain Anterior Caudate	brain
21	chr7:104628600-104636400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr7:104628800-104633200	Strong transcription	Fetal Thymus	thymus
23	chr7:104629800-104634200	Weak transcription	HSMMtube	muscle
24	chr7:104629800-104640200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr7:104629800-104641200	Weak transcription	Colonic Mucosa	Colon
26	chr7:104630000-104637800	Strong transcription	Dnd41	blood
27	chr7:104630200-104633400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr7:104630200-104633400	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr7:104630200-104633800	Weak transcription	Stomach Smooth Muscle	stomach
30	chr7:104630200-104641200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr7:104630800-104633200	Weak transcription	Small Intestine	intestine
32	chr7:104630800-104634000	Weak transcription	Fetal Heart	heart
33	chr7:104630800-104635400	Strong transcription	Muscle Satellite Cultured Cells	--
34	chr7:104630800-104639000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr7:104630800-104640200	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr7:104630800-104641600	Weak transcription	Brain Cingulate Gyrus	brain
37	chr7:104630800-104643600	Weak transcription	Fetal Kidney	kidney
38	chr7:104631000-104634200	Weak transcription	Primary B cells from cord blood	blood
39	chr7:104631000-104636400	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr7:104631000-104636800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr7:104631200-104633000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr7:104631200-104636800	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr7:104631600-104633200	Weak transcription	Psoas Muscle	Psoas
44	chr7:104631600-104633400	Weak transcription	Stomach Mucosa	stomach
45	chr7:104631600-104634800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr7:104631600-104639000	Strong transcription	K562	blood
47	chr7:104631600-104643600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr7:104631800-104633600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr7:104631800-104633800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr7:104631800-104633800	Weak transcription	Right Ventricle	heart

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