Variant report

Variant	esv3475303
Chromosome Location	chr7:70419016-70427914
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	chr7:70419574..70421906-chr7:70424022..70425559,2	K562	blood:
2	chr7:70419574..70421906-chr7:70424022..70425559,2	K562	blood:

Extended variants
information (count: 171 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:171 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529767015	chr7:70419055-70419056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs1568864	chr7:70419110-70419111	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs552148998	chr7:70419168-70419169	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs386714473	chr7:70419196-70419197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181030449	chr7:70419197-70419198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs372182918	chr7:70419213-70419214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs151121102	chr7:70419296-70419297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs183765514	chr7:70419339-70419340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs536362031	chr7:70419360-70419361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs375436840	chr7:70419405-70419406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549806012	chr7:70419455-70419456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs554328473	chr7:70419466-70419467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575992541	chr7:70419500-70419501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs536687008	chr7:70419539-70419540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs1464854	chr7:70419540-70419541	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs577238613	chr7:70419571-70419572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188783464	chr7:70419627-70419628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs139946492	chr7:70419628-70419629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563274931	chr7:70419633-70419634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs574504495	chr7:70419667-70419668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542310389	chr7:70419673-70419674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs367760809	chr7:70419678-70419679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs531027410	chr7:70419714-70419715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs181243798	chr7:70419717-70419718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs12672700	chr7:70419737-70419738	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs186220425	chr7:70419760-70419761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs12666737	chr7:70419764-70419765	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs546855788	chr7:70419811-70419812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs1464853	chr7:70419818-70419819	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs535629158	chr7:70419840-70419841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551152816	chr7:70419884-70419885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548516866	chr7:70419906-70419907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7797232	chr7:70419914-70419915	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs537154113	chr7:70419945-70419946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs28716291	chr7:70419987-70419988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs1464852	chr7:70419994-70419995	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs1464851	chr7:70420012-70420013	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs145811004	chr7:70420018-70420019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112460392	chr7:70420044-70420045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574670167	chr7:70420076-70420077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373836200	chr7:70420091-70420092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546178629	chr7:70420116-70420117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs141688267	chr7:70420139-70420140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145432291	chr7:70420152-70420153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10227112	chr7:70420221-70420222	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs528428781	chr7:70420231-70420232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539433903	chr7:70420243-70420244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540528232	chr7:70420267-70420268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs370235650	chr7:70420283-70420284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562292729	chr7:70420300-70420301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Breast cancer	22522925	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70416800-70419600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:70417400-70419200	Enhancers	Fetal Intestine Large	intestine
3	chr7:70418200-70419800	Enhancers	Fetal Stomach	stomach
4	chr7:70418600-70419800	Enhancers	Fetal Muscle Leg	muscle
5	chr7:70418800-70419200	Enhancers	Fetal Intestine Small	intestine
6	chr7:70418800-70419200	Weak transcription	Fetal Kidney	kidney
7	chr7:70419200-70419400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:70419200-70419800	Enhancers	Fetal Kidney	kidney
9	chr7:70419800-70421000	Weak transcription	Fetal Muscle Leg	muscle
10	chr7:70421000-70421600	Enhancers	Fetal Muscle Leg	muscle
11	chr7:70421600-70423000	Weak transcription	Fetal Muscle Leg	muscle
12	chr7:70423000-70423200	Enhancers	Fetal Muscle Leg	muscle

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