Variant report

Variant	esv998290
Chromosome Location	chr7:71211323-71216936
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:71216886..71217682-chr7:71958728..71959690,3	K562	blood:

Extended variants
information (count: 215 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:215 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565817040	chr7:71211347-71211348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs551076522	chr7:71211365-71211366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs180996784	chr7:71211401-71211402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371039186	chr7:71211464-71211465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs111481419	chr7:71211484-71211485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569915231	chr7:71211494-71211495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375295642	chr7:71211516-71211517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10273681	chr7:71211570-71211571	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs548013563	chr7:71211608-71211609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548886174	chr7:71211652-71211653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186134233	chr7:71211660-71211661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139802450	chr7:71211669-71211670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375117586	chr7:71211771-71211772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190917007	chr7:71211787-71211788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536968070	chr7:71211867-71211868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376078105	chr7:71211899-71211900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563829056	chr7:71211900-71211901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs142235819	chr7:71211914-71211915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577175581	chr7:71212426-71212427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs144052641	chr7:71212954-71212955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs114004414	chr7:71212979-71212980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553480722	chr7:71212980-71212981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs36167803	chr7:71212995-71212996	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs111530804	chr7:71213031-71213032	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs9638633	chr7:71213181-71213182	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs369662492	chr7:71213198-71213199	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576680585	chr7:71213203-71213204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544090744	chr7:71213293-71213294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565570578	chr7:71213295-71213296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11773640	chr7:71213301-71213302	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs181366574	chr7:71213302-71213303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559829933	chr7:71213359-71213360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200825516	chr7:71213362-71213363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185847326	chr7:71213386-71213387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs117355837	chr7:71213392-71213393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576107892	chr7:71213414-71213415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs9638634	chr7:71213423-71213424	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs537757421	chr7:71213427-71213428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs11764288	chr7:71213466-71213467	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs571188024	chr7:71213481-71213482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538281943	chr7:71213489-71213490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553319188	chr7:71213490-71213491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190653185	chr7:71213556-71213557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535923755	chr7:71213557-71213558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555156621	chr7:71213562-71213563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544139205	chr7:71213568-71213569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544029806	chr7:71213623-71213624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563250291	chr7:71213626-71213627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs369593980	chr7:71213636-71213637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537231932	chr7:71213646-71213647	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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:71205400-71217000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:71212800-71213000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr7:71213000-71213200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
4	chr7:71213200-71215400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr7:71214800-71215200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:71215000-71215400	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr7:71215200-71216800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr7:71215200-71218600	Weak transcription	Right Atrium	heart
9	chr7:71215400-71217400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr7:71216800-71217000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
11	chr7:71216800-71217000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
12	chr7:71216800-71217000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
13	chr7:71216800-71217000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr7:71216800-71217000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr7:71216800-71217200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr7:71216800-71217200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:71216800-71217600	Enhancers	Primary hematopoietic stem cells	blood
18	chr7:71216800-71217600	Enhancers	Liver	Liver
19	chr7:71216800-71217800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell

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