Variant report

Variant	esv1004276
Chromosome Location	chr7:12717565-12718661
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	chr7:12717166..12722121-chr7:12722819..12730099,9	K562	blood:

Variant related genes	Relation type
ENSG00000271253	chromatin interactions
ENSG00000122644	chromatin interactions

Extended variants
information (count: 66 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567084599	chr7:12717570-12717571	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs73053451	chr7:12717578-12717579	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs189310414	chr7:12717580-12717581	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs373449485	chr7:12717665-12717666	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs537835662	chr7:12717682-12717683	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs111768426	chr7:12717684-12717685	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs181945024	chr7:12717688-12717689	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs553524001	chr7:12717690-12717691	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs576606981	chr7:12717700-12717701	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs370649524	chr7:12717710-12717711	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs545629223	chr7:12717732-12717733	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs531442024	chr7:12717733-12717734	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs71529345	chr7:12717743-12717744	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs531553612	chr7:12717758-12717759	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs544548118	chr7:12717762-12717763	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs141595009	chr7:12717770-12717771	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs530173701	chr7:12717777-12717778	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs186062693	chr7:12717778-12717779	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs188974964	chr7:12717779-12717780	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs546289089	chr7:12717791-12717792	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs76350001	chr7:12717822-12717823	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs569527520	chr7:12717823-12717824	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs538168577	chr7:12717825-12717826	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs548137806	chr7:12717830-12717831	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs199557717	chr7:12717855-12717856	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs570899991	chr7:12717861-12717862	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs55919868	chr7:12717894-12717895	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs556612636	chr7:12717900-12717901	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs533572074	chr7:12717903-12717904	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs553436054	chr7:12717917-12717918	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs576571582	chr7:12717918-12717919	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs181673252	chr7:12717933-12717934	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs555944300	chr7:12717980-12717981	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs576245104	chr7:12717988-12717989	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs541773106	chr7:12718012-12718013	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs561306277	chr7:12718020-12718021	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs138301368	chr7:12718023-12718024	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs540663514	chr7:12718043-12718044	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs186952468	chr7:12718061-12718062	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs12534447	chr7:12718062-12718063	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs116757624	chr7:12718091-12718092	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs76304556	chr7:12718116-12718117	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs58463653	chr7:12718132-12718133	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs532282343	chr7:12718148-12718149	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs17615676	chr7:12718149-12718150	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs554196296	chr7:12718152-12718153	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs568771107	chr7:12718196-12718197	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs76695065	chr7:12718290-12718291	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs78603493	chr7:12718295-12718296	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs77725743	chr7:12718299-12718300	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	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
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Medulloblastoma	17653508	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Glioblastoma multiforme	17002787	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12718200-12723800	Weak transcription	Placenta	Placenta

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