Variant report

Variant	esv2762891
Chromosome Location	chr11:4187282-4191461
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:4184965..4187541-chr11:4189558..4191938,3	K562	blood:
2	chr11:4184965..4187541-chr11:4189558..4191938,3	K562	blood:
3	chr11:4184965..4186583-chr11:4189758..4191938,2	K562	blood:
4	chr11:4115681..4117881-chr11:4185154..4187618,2	K562	blood:

Variant related genes	Relation type
ENSG00000167325	chromatin interactions

Extended variants
information (count: 175 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:175 , 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	rs11828628	chr11:4187282-4187283	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs112117114	chr11:4187372-4187373	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs74912175	chr11:4187399-4187400	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs547375026	chr11:4187451-4187452	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs565881083	chr11:4187554-4187555	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs184971924	chr11:4187566-4187567	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs116445898	chr11:4187651-4187652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570197061	chr11:4187656-4187657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537347858	chr11:4187678-4187679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559165507	chr11:4187691-4187692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571047676	chr11:4187721-4187722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534664121	chr11:4187722-4187723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs16929801	chr11:4187726-4187727	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs17284244	chr11:4187727-4187728	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs541915255	chr11:4187735-4187736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs6578457	chr11:4187765-4187766	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs575348967	chr11:4187790-4187791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377383190	chr11:4187796-4187797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187487462	chr11:4187800-4187801	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs564442595	chr11:4187804-4187805	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs528371072	chr11:4187814-4187815	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs541054881	chr11:4187819-4187820	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs559305585	chr11:4187861-4187862	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs370462102	chr11:4187927-4187928	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs367712845	chr11:4188027-4188028	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs530149442	chr11:4188058-4188059	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs192736479	chr11:4188089-4188090	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs570165145	chr11:4188092-4188093	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs531175475	chr11:4188178-4188179	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs374771912	chr11:4188184-4188185	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs1442727	chr11:4188188-4188189	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs372264644	chr11:4188243-4188244	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs184737559	chr11:4188291-4188292	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs535323490	chr11:4188292-4188293	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs553021947	chr11:4188318-4188319	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs568036549	chr11:4188330-4188331	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs368596428	chr11:4188364-4188365	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs1442728	chr11:4188418-4188419	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs556975668	chr11:4188430-4188431	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs575236445	chr11:4188436-4188437	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs144486190	chr11:4188440-4188441	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs60561741	chr11:4188454-4188455	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs56005983	chr11:4188455-4188456	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs189460790	chr11:4188460-4188461	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs182060473	chr11:4188473-4188474	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs532233365	chr11:4188497-4188498	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs79685080	chr11:4188504-4188505	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs34891481	chr11:4188520-4188521	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs148360919	chr11:4188522-4188523	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs552993876	chr11:4188525-4188526	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4178800-4187800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:4187800-4190000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:4190000-4197000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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