Variant report

Variant	nsv1022083
Chromosome Location	chr7:104634376-104644391
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:6)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

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

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SRPK2-1	chr7:104641588-104642450	NONHSAT122593
2	lnc-SRPK2-1	chr7:104634419-104634740	NONHSAT122593
3	lnc-SRPK2-1	chr7:104637584-104654636	NONHSAT122594
4	lnc-SRPK2-1	chr7:104639820-104640178	NONHSAT122593

No data

Variant related genes	Relation type
ENSG00000237513	chromatin interactions
ENSG00000146776	chromatin interactions

Extended variants
information (count: 397 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:397 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555553237	chr7:104634487-104634488	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
2	rs549894468	chr7:104634518-104634519	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs575416265	chr7:104634523-104634524	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs537714457	chr7:104634660-104634661	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs558065444	chr7:104634676-104634677	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs141268328	chr7:104634702-104634703	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs144979742	chr7:104634743-104634744	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560201211	chr7:104634820-104634821	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs370022695	chr7:104634876-104634877	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs138792611	chr7:104634893-104634894	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574226009	chr7:104634941-104634942	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562907516	chr7:104634963-104634964	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs531968545	chr7:104634984-104634985	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs568529800	chr7:104635007-104635008	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188710451	chr7:104635018-104635019	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs372169079	chr7:104635019-104635020	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs140606102	chr7:104635020-104635021	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs150474979	chr7:104635034-104635035	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs76603426	chr7:104635063-104635064	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs535525159	chr7:104635070-104635071	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566476806	chr7:104635071-104635072	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs535513128	chr7:104635206-104635207	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs549115230	chr7:104635300-104635301	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs568942629	chr7:104635301-104635302	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs79653827	chr7:104635467-104635468	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs557762700	chr7:104635477-104635478	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs138279401	chr7:104635520-104635521	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs113014588	chr7:104635540-104635541	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs149610025	chr7:104635581-104635582	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs553724520	chr7:104635588-104635589	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs10274607	chr7:104635597-104635598	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs76968965	chr7:104635642-104635643	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs377725575	chr7:104635669-104635670	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs147385200	chr7:104635670-104635671	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs545626117	chr7:104635731-104635732	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs138009024	chr7:104635744-104635745	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs74474309	chr7:104635749-104635750	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs541766340	chr7:104635794-104635795	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs372692060	chr7:104635795-104635796	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs528930834	chr7:104635807-104635808	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs376027712	chr7:104635879-104635880	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs549074719	chr7:104635902-104635903	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs568978296	chr7:104635937-104635938	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs531395260	chr7:104635968-104635969	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs551511362	chr7:104635980-104635981	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs192599284	chr7:104636103-104636104	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs533803471	chr7:104636134-104636135	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs183280170	chr7:104636199-104636200	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs373173621	chr7:104636307-104636308	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs377034933	chr7:104636322-104636323	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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	18451855	CNVD

Chromatin state (count:783 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104625000-104641200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:104625000-104647400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:104625200-104643800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:104625400-104643000	Weak transcription	Fetal Brain Female	brain
5	chr7:104625600-104636400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:104625800-104641200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr7:104626200-104636200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr7:104626200-104641600	Weak transcription	Brain Germinal Matrix	brain
9	chr7:104626400-104639600	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr7:104627000-104641000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr7:104627200-104638400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr7:104627400-104634800	Weak transcription	Brain Substantia Nigra	brain
13	chr7:104627400-104643600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:104627800-104637600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr7:104628600-104636400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr7:104629800-104640200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr7:104629800-104641200	Weak transcription	Colonic Mucosa	Colon
18	chr7:104630000-104637800	Strong transcription	Dnd41	blood
19	chr7:104630200-104641200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr7:104630800-104635400	Strong transcription	Muscle Satellite Cultured Cells	--
21	chr7:104630800-104639000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr7:104630800-104640200	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr7:104630800-104641600	Weak transcription	Brain Cingulate Gyrus	brain
24	chr7:104630800-104643600	Weak transcription	Fetal Kidney	kidney
25	chr7:104631000-104636400	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr7:104631000-104636800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:104631200-104636800	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr7:104631600-104634800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr7:104631600-104639000	Strong transcription	K562	blood
30	chr7:104631600-104643600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr7:104631800-104635800	Weak transcription	Ovary	ovary
32	chr7:104632000-104634400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr7:104632000-104634400	Weak transcription	NH-A	brain
34	chr7:104632000-104636000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr7:104632000-104637600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr7:104632000-104637800	Strong transcription	GM12878-XiMat	blood
37	chr7:104632000-104641200	Weak transcription	Fetal Muscle Trunk	muscle
38	chr7:104632200-104634400	Weak transcription	Brain Hippocampus Middle	brain
39	chr7:104632200-104634800	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr7:104632200-104635200	Weak transcription	Liver	Liver
41	chr7:104632200-104635800	Weak transcription	Thymus	Thymus
42	chr7:104632200-104636600	Weak transcription	Fetal Lung	lung
43	chr7:104632200-104640600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr7:104632200-104641200	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr7:104632200-104641200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr7:104632200-104641200	Weak transcription	Esophagus	oesophagus
47	chr7:104632200-104641200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr7:104632200-104641200	Weak transcription	Fetal Muscle Leg	muscle
49	chr7:104632200-104641200	Weak transcription	Gastric	stomach
50	chr7:104632200-104641200	Weak transcription	Pancreas	Pancrea

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