Variant report

Variant	nsv1024524
Chromosome Location	chr7:70031241-70138924
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:18)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:70069205..70071813-chr7:70077445..70079383,2	K562	blood:
2	chr7:70029430..70032358-chr7:70034724..70037517,2	K562	blood:
3	chr7:70069205..70071813-chr7:70077445..70079383,2	K562	blood:
4	chr7:70116058..70119019-chr7:70120958..70123553,2	K562	blood:
5	chr7:70092147..70095006-chr7:70098737..70101187,2	K562	blood:
6	chr7:70041903..70043590-chr7:70046514..70049488,2	K562	blood:
7	chr7:70133847..70137058-chr7:70140413..70143195,3	K562	blood:
8	chr7:70035377..70037187-chr7:70048714..70051712,2	MCF-7	breast:
9	chr7:70084622..70086291-chr7:70088234..70089854,2	K562	blood:
10	chr7:70048823..70050343-chr7:70052305..70054085,2	K562	blood:
11	chr7:70029430..70032358-chr7:70034724..70037517,2	K562	blood:
12	chr7:70084622..70086291-chr7:70088234..70089854,2	K562	blood:
13	chr7:70116058..70119019-chr7:70120958..70123553,2	K562	blood:
14	chr7:70092147..70095006-chr7:70098737..70101187,2	K562	blood:
15	chr7:70048823..70050343-chr7:70052305..70054085,2	K562	blood:
16	chr7:70035377..70037187-chr7:70048714..70051712,2	MCF-7	breast:
17	chr7:70049785..70050737-chr7:70162923..70163511,2	MCF-7	breast:
18	chr7:70041903..70043590-chr7:70046514..70049488,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CALN1-4	chr7:70083180-70083205	NONHSAT121334
2	lnc-CALN1-4	chr7:70085301-70085806	NONHSAT121334

No data

Extended variants
information (count: 4352 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:4352 , 50 per page) page: 1 2 3 4 5 6 7 ... 88

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2189962	chr7:70031272-70031273	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs148939331	chr7:70031293-70031294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs35571458	chr7:70031320-70031321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544536040	chr7:70031361-70031362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562528883	chr7:70031365-70031366	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566101555	chr7:70031403-70031404	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374570629	chr7:70031412-70031413	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs180865578	chr7:70031478-70031479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560577991	chr7:70031480-70031481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368032595	chr7:70031506-70031507	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184313213	chr7:70031540-70031541	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147025219	chr7:70031544-70031545	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2214715	chr7:70031568-70031569	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs567702280	chr7:70031598-70031599	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572069023	chr7:70031642-70031643	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs138931493	chr7:70031645-70031646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188615344	chr7:70031649-70031650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571718305	chr7:70031653-70031654	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537219272	chr7:70031657-70031658	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539234339	chr7:70031720-70031721	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140906924	chr7:70031724-70031725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369653178	chr7:70031727-70031728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142861626	chr7:70031820-70031821	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560732149	chr7:70031831-70031832	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181687136	chr7:70031852-70031853	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371032373	chr7:70031885-70031886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111359180	chr7:70031906-70031907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112350240	chr7:70031921-70031922	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574419610	chr7:70031984-70031985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535365890	chr7:70031999-70032000	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs4717534	chr7:70032054-70032055	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs573616990	chr7:70032082-70032083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536603534	chr7:70032101-70032102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544157223	chr7:70032147-70032148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556443732	chr7:70032151-70032152	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577722868	chr7:70032228-70032229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs4718962	chr7:70032277-70032278	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs560433744	chr7:70032441-70032442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs527776064	chr7:70032484-70032485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs545390896	chr7:70032501-70032502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs369087317	chr7:70032587-70032588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs17569846	chr7:70032613-70032614	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs187043016	chr7:70032636-70032637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs191430689	chr7:70032649-70032650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs571921131	chr7:70032657-70032658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs532554261	chr7:70032669-70032670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs114504954	chr7:70032690-70032691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs565975531	chr7:70032719-70032720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs533627276	chr7:70032722-70032723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs148043155	chr7:70032729-70032730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
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
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	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
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16461572	CNVD
Acute monocytic leukemia	16498392	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18765545	CNVD
Chordoma	18071362	CNVD
Williams Syndrome	20824207	CNVD
Dyslexia	22102821	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:2095 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70012600-70036800	Weak transcription	Fetal Stomach	stomach
2	chr7:70016000-70033600	Weak transcription	Ovary	ovary
3	chr7:70018600-70033800	Weak transcription	Fetal Brain Male	brain
4	chr7:70020000-70036600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr7:70023600-70038000	Weak transcription	Primary B cells from peripheral blood	blood
6	chr7:70024000-70046400	Weak transcription	Primary B cells from cord blood	blood
7	chr7:70025200-70033600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr7:70025400-70033600	Weak transcription	Pancreas	Pancrea
9	chr7:70025400-70035600	Weak transcription	Fetal Intestine Small	intestine
10	chr7:70027600-70039400	Weak transcription	Brain Angular Gyrus	brain
11	chr7:70030200-70032200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr7:70030400-70031400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr7:70030400-70033600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:70030800-70031600	Enhancers	Fetal Kidney	kidney
15	chr7:70030800-70032200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:70030800-70034000	Weak transcription	Gastric	stomach
17	chr7:70031000-70036600	Enhancers	Liver	Liver
18	chr7:70031200-70031600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:70031200-70031600	Weak transcription	Adipose Nuclei	Adipose
20	chr7:70031200-70032200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr7:70031200-70032400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr7:70031200-70033600	Weak transcription	Stomach Mucosa	stomach
23	chr7:70031200-70035000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr7:70031200-70035400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr7:70031200-70036400	Weak transcription	Brain Hippocampus Middle	brain
26	chr7:70031200-70036600	Weak transcription	Brain Anterior Caudate	brain
27	chr7:70031200-70036600	Weak transcription	Brain Substantia Nigra	brain
28	chr7:70031600-70032000	Weak transcription	Fetal Kidney	kidney
29	chr7:70031600-70032200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr7:70031600-70032200	Enhancers	Adipose Nuclei	Adipose
31	chr7:70031600-70032400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr7:70031800-70034400	Weak transcription	Aorta	Aorta
33	chr7:70032000-70032200	Enhancers	Fetal Kidney	kidney
34	chr7:70032000-70034200	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr7:70032000-70034200	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr7:70032200-70033600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:70032200-70033600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr7:70032200-70034000	Weak transcription	Fetal Kidney	kidney
39	chr7:70032200-70036200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr7:70032200-70036400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr7:70032200-70036600	Weak transcription	Fetal Brain Female	brain
42	chr7:70032400-70033000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr7:70032400-70038800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr7:70033000-70033400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr7:70033000-70033600	Enhancers	K562	blood
46	chr7:70033000-70034000	Enhancers	Duodenum Mucosa	Duodenum
47	chr7:70033000-70037400	Weak transcription	Lung	lung
48	chr7:70033200-70034200	Enhancers	Fetal Heart	heart
49	chr7:70033400-70033600	Enhancers	Fetal Muscle Leg	muscle
50	chr7:70033400-70033800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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