Variant report

Variant	esv1797684
Chromosome Location	chr7:113021972-113028663
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:112578058..112580210-chr7:113025445..113027597,2	K562	blood:
2	chr7:113028637..113030163-chr7:113052999..113055912,2	K562	blood:
3	chr7:113026289..113028138-chr7:113029115..113030912,2	K562	blood:

Variant related genes	Relation type
ENSG00000164603	chromatin interactions
ENSG00000270997	chromatin interactions

Extended variants
information (count: 281 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:281 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189142753	chr7:113021973-113021974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs529527466	chr7:113021990-113021991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548047336	chr7:113022012-113022013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566290119	chr7:113022085-113022086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539811137	chr7:113022086-113022087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551445601	chr7:113022128-113022129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546095908	chr7:113022129-113022130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10246634	chr7:113022136-113022137	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs548185142	chr7:113022160-113022161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531735282	chr7:113022167-113022168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555454369	chr7:113022186-113022187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574279598	chr7:113022190-113022191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs62487719	chr7:113022193-113022194	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs373802867	chr7:113022240-113022241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554035154	chr7:113022268-113022269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572293377	chr7:113022272-113022273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs147341058	chr7:113022278-113022279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563879399	chr7:113022320-113022321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139481586	chr7:113022364-113022365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192016394	chr7:113022378-113022379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561792982	chr7:113022381-113022382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs116386726	chr7:113022400-113022401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs56300738	chr7:113022402-113022403	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs547120551	chr7:113022404-113022405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184559723	chr7:113022405-113022406	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs116038059	chr7:113022406-113022407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533410431	chr7:113022407-113022408	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1722315	chr7:113022408-113022409	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188480535	chr7:113022410-113022411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368036290	chr7:113022412-113022413	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537079441	chr7:113022454-113022455	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548040825	chr7:113022464-113022465	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549046454	chr7:113022509-113022510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191764785	chr7:113022510-113022511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535633036	chr7:113022512-113022513	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553648453	chr7:113022531-113022532	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs150056786	chr7:113022589-113022590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185037270	chr7:113022591-113022592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs149039182	chr7:113022607-113022608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs940500	chr7:113022635-113022636	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs369076202	chr7:113022644-113022645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576093161	chr7:113022664-113022665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543488962	chr7:113022679-113022680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs532438679	chr7:113022691-113022692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189119062	chr7:113022707-113022708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371655596	chr7:113022724-113022725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541123489	chr7:113022740-113022741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550468750	chr7:113022743-113022744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541336302	chr7:113022812-113022813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533586667	chr7:113022834-113022835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
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
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	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
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16397240	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Autism	19401682	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:113009000-113024200	Weak transcription	Fetal Brain Female	brain
2	chr7:113016600-113022400	Weak transcription	Fetal Brain Male	brain
3	chr7:113022400-113022600	Enhancers	Fetal Brain Male	brain
4	chr7:113022600-113023000	Weak transcription	Fetal Brain Male	brain
5	chr7:113023000-113024000	Enhancers	Fetal Brain Male	brain
6	chr7:113023200-113026200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr7:113023800-113024000	Enhancers	Pancreas	Pancrea
8	chr7:113023800-113024200	Enhancers	Fetal Heart	heart
9	chr7:113024200-113024800	Enhancers	Fetal Brain Female	brain
10	chr7:113026200-113026600	Enhancers	Placenta Amnion	Placenta Amnion
11	chr7:113026600-113033200	Weak transcription	Placenta Amnion	Placenta Amnion

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