Variant report

Variant	nsv607432
Chromosome Location	chr7:70071920-70100347
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:5)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:70092147..70095006-chr7:70098737..70101187,2	K562	blood:
2	chr7:70069205..70071813-chr7:70077445..70079383,2	K562	blood:
3	chr7:70084622..70086291-chr7:70088234..70089854,2	K562	blood:
4	chr7:70084622..70086291-chr7:70088234..70089854,2	K562	blood:
5	chr7:70092147..70095006-chr7:70098737..70101187,2	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: 1241 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:1241 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10486867	chr7:70071920-70071921	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs185876308	chr7:70071943-70071944	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571574622	chr7:70071953-70071954	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538987694	chr7:70071957-70071958	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs38300	chr7:70071979-70071980	Enhancers Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs566151841	chr7:70071990-70071991	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536894782	chr7:70072045-70072046	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146873113	chr7:70072046-70072047	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555502277	chr7:70072110-70072111	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573810557	chr7:70072156-70072157	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377600274	chr7:70072185-70072186	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs78255912	chr7:70072208-70072209	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138336429	chr7:70072225-70072226	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs398073075	chr7:70072226-70072227	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369842346	chr7:70072227-70072228	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556208679	chr7:70072238-70072239	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577838858	chr7:70072280-70072281	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs75230775	chr7:70072302-70072303	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188749472	chr7:70072305-70072306	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139726298	chr7:70072312-70072313	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111768439	chr7:70072317-70072318	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549682121	chr7:70072328-70072329	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs74644492	chr7:70072361-70072362	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs55688825	chr7:70072362-70072363	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543385107	chr7:70072365-70072366	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565139180	chr7:70072376-70072377	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs367717929	chr7:70072393-70072394	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs59600785	chr7:70072427-70072428	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569736715	chr7:70072441-70072442	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs79895271	chr7:70072471-70072472	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547765915	chr7:70072480-70072481	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs28444803	chr7:70072495-70072496	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370992638	chr7:70072501-70072502	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192788759	chr7:70072563-70072564	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142920622	chr7:70072569-70072570	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183710949	chr7:70072614-70072615	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375587368	chr7:70072630-70072631	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs116868771	chr7:70072631-70072632	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368295407	chr7:70072675-70072676	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566874641	chr7:70072680-70072681	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556145371	chr7:70072687-70072688	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188180755	chr7:70072707-70072708	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538668094	chr7:70072742-70072743	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533954367	chr7:70072748-70072749	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553779278	chr7:70072828-70072829	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558679085	chr7:70072873-70072874	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572332495	chr7:70072894-70072895	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542397634	chr7:70072915-70072916	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554366026	chr7:70072965-70072966	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs151063255	chr7:70072966-70072967	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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

Chromatin state (count:528 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70061800-70079400	Weak transcription	Psoas Muscle	Psoas
2	chr7:70065000-70079600	Weak transcription	Esophagus	oesophagus
3	chr7:70065800-70072400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:70066400-70079400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr7:70066800-70077400	Weak transcription	Fetal Brain Female	brain
6	chr7:70068200-70079000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:70069400-70077400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr7:70069800-70072000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr7:70069800-70076400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:70069800-70076400	Weak transcription	Liver	Liver
11	chr7:70069800-70077400	Weak transcription	Fetal Stomach	stomach
12	chr7:70069800-70079200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr7:70069800-70079400	Weak transcription	Ovary	ovary
14	chr7:70070000-70077400	Weak transcription	Fetal Kidney	kidney
15	chr7:70070000-70077800	Weak transcription	Fetal Muscle Trunk	muscle
16	chr7:70070000-70078800	Weak transcription	Primary B cells from cord blood	blood
17	chr7:70070000-70081200	Weak transcription	Fetal Intestine Small	intestine
18	chr7:70070400-70074400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr7:70070400-70078000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:70071600-70073400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr7:70072000-70073800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr7:70072000-70073800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr7:70072000-70073800	Enhancers	NHEK	skin
24	chr7:70072200-70072400	Enhancers	Brain Germinal Matrix	brain
25	chr7:70072200-70074000	Enhancers	HMEC	breast
26	chr7:70072400-70073800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr7:70073400-70073600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr7:70073800-70074600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr7:70073800-70079000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr7:70073800-70079000	Weak transcription	NHEK	skin
31	chr7:70073800-70079200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr7:70074000-70078800	Weak transcription	HMEC	breast
33	chr7:70074400-70075400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr7:70074800-70077800	Weak transcription	Brain Substantia Nigra	brain
35	chr7:70075400-70077400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr7:70076000-70079400	Weak transcription	Aorta	Aorta
37	chr7:70076200-70078400	Enhancers	Brain Germinal Matrix	brain
38	chr7:70076400-70076600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr7:70076400-70076600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr7:70076400-70076600	Enhancers	Liver	Liver
41	chr7:70076600-70077000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr7:70076600-70077600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr7:70076600-70079000	Weak transcription	Liver	Liver
44	chr7:70077000-70080200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr7:70077200-70079800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr7:70077400-70077600	Enhancers	Fetal Kidney	kidney
47	chr7:70077400-70078000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr7:70077400-70078200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr7:70077400-70078200	Enhancers	Fetal Stomach	stomach
50	chr7:70077400-70079400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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