Variant report

Variant	nsv607459
Chromosome Location	chr7:71239514-71266533
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:71248094..71249916-chr7:71251469..71253401,2	K562	blood:
2	chr20:48663617..48664420-chr7:71258548..71259048,2	Hela-S3	cervix:
3	chr7:71248094..71249916-chr7:71251469..71253401,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CALN1-2	chr7:71244476-71246986	NONHSAT121356

Extended variants
information (count: 1255 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:1255 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6956582	chr7:71239514-71239515	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs140407557	chr7:71239515-71239516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574060681	chr7:71239519-71239520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544752794	chr7:71239530-71239531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs528545659	chr7:71239544-71239545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562935132	chr7:71239565-71239566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182665229	chr7:71239580-71239581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552354323	chr7:71239603-71239604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564234811	chr7:71239608-71239609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73360053	chr7:71239623-71239624	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs546577247	chr7:71239653-71239654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs78959836	chr7:71239663-71239664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112151654	chr7:71239677-71239678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs377345829	chr7:71239722-71239723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550278729	chr7:71239832-71239833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568563518	chr7:71239835-71239836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539651387	chr7:71239851-71239852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs138067867	chr7:71239860-71239861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141001863	chr7:71239901-71239902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370683983	chr7:71239914-71239915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534534972	chr7:71239952-71239953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10551255	chr7:71239971-71239972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372645233	chr7:71239984-71239985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568499830	chr7:71239985-71239986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200578623	chr7:71239986-71239987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574097904	chr7:71239995-71239996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544589272	chr7:71240008-71240009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562973836	chr7:71240021-71240022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs578114126	chr7:71240062-71240063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535428439	chr7:71240086-71240087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs144724713	chr7:71240181-71240182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374828096	chr7:71240188-71240189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368141720	chr7:71240189-71240190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138603421	chr7:71240219-71240220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs540557121	chr7:71240246-71240247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs149264431	chr7:71240256-71240257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs373841882	chr7:71240260-71240261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs550117165	chr7:71240274-71240275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs28510753	chr7:71240296-71240297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs111989379	chr7:71240305-71240306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs568500342	chr7:71240319-71240320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs367686977	chr7:71240333-71240334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs143461510	chr7:71240342-71240343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs192776697	chr7:71240355-71240356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs12699084	chr7:71240371-71240372	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs147977653	chr7:71240373-71240374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs567912447	chr7:71240407-71240408	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185456931	chr7:71240415-71240416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs142030630	chr7:71240419-71240420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147325127	chr7:71240445-71240446	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Breast cancer	22522925	CNVD

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:71235400-71240400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr7:71235600-71243000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr7:71240200-71240800	Enhancers	NH-A	brain
4	chr7:71240400-71240800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr7:71240400-71240800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr7:71242800-71243000	Enhancers	Primary hematopoietic stem cells	blood
7	chr7:71243000-71243200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr7:71243000-71243400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr7:71243200-71247000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr7:71243400-71248000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr7:71244800-71246200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
12	chr7:71244800-71246400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:71244800-71246400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr7:71244800-71246600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr7:71244800-71246800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:71244800-71249600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr7:71245000-71245800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr7:71245000-71246200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
19	chr7:71245200-71245600	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr7:71245200-71246400	Enhancers	Dnd41	blood
21	chr7:71245200-71246600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:71245400-71245600	Enhancers	H1 Cell Line	embryonic stem cell
23	chr7:71245400-71245800	Enhancers	Brain Substantia Nigra	brain
24	chr7:71245400-71246000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
25	chr7:71245600-71246000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
26	chr7:71245800-71246200	Weak transcription	Fetal Thymus	thymus
27	chr7:71245800-71246600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr7:71246200-71246400	Enhancers	Fetal Thymus	thymus
29	chr7:71246400-71250000	Weak transcription	Fetal Thymus	thymus
30	chr7:71246400-71251600	Weak transcription	Primary hematopoietic stem cells	blood
31	chr7:71246600-71249600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:71246800-71247600	Enhancers	Placenta Amnion	Placenta Amnion
33	chr7:71247000-71251800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr7:71248000-71249600	Weak transcription	Thymus	Thymus
35	chr7:71248000-71251600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr7:71248400-71250000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr7:71248400-71250000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr7:71248800-71249000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
39	chr7:71248800-71249000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
40	chr7:71248800-71249200	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr7:71248800-71249800	Enhancers	H9 Cell Line	embryonic stem cell
42	chr7:71248800-71250000	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr7:71248800-71250200	Enhancers	H1 Cell Line	embryonic stem cell
44	chr7:71248800-71250200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr7:71249000-71249200	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr7:71249000-71249200	Enhancers	Fetal Muscle Leg	muscle
47	chr7:71249000-71249600	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr7:71249000-71249600	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr7:71249000-71249800	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr7:71249000-71249800	Enhancers	Fetal Brain Female	brain

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