Variant report

Variant	esv2757043
Chromosome Location	chr4:22017167-22090982
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:22045762..22048489-chr4:22082694..22085288,2	MCF-7	breast:
2	chr4:21790635..21791482-chr4:22083518..22084264,2	MCF-7	breast:
3	chr4:22045762..22048489-chr4:22082694..22085288,2	MCF-7	breast:
4	chr4:22022641..22025613-chr4:22031377..22033219,2	K562	blood:
5	chr4:22028111..22029824-chr4:22035660..22037244,2	MCF-7	breast:
6	chr4:22022641..22025613-chr4:22031377..22033219,2	K562	blood:
7	chr4:22028111..22029824-chr4:22035660..22037244,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PACRGL-5	chr4:22060696-22060983	ENSG00000250039.2
2	lnc-PACRGL-5	chr4:22060707-22060983	ENSG00000250039.3

No data

Extended variants
information (count: 995 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:995 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532777667	chr4:22022618-22022619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs184110734	chr4:22022641-22022642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs561172158	chr4:22022660-22022661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs572586524	chr4:22022696-22022697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs533809916	chr4:22022700-22022701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs199977407	chr4:22022704-22022705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs369734362	chr4:22022705-22022706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565011401	chr4:22022716-22022717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531961857	chr4:22022756-22022757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs550562623	chr4:22022811-22022812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562633886	chr4:22022842-22022843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs28561804	chr4:22022857-22022858	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs188601714	chr4:22022890-22022891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs34512134	chr4:22022924-22022925	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs181440455	chr4:22022945-22022946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs546750843	chr4:22022955-22022956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs140169321	chr4:22022957-22022958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs538646684	chr4:22022990-22022991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs555180388	chr4:22022992-22022993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs9684525	chr4:22023002-22023003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs575509319	chr4:22023036-22023037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536581207	chr4:22023069-22023070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs534722705	chr4:22023152-22023153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs9997381	chr4:22023205-22023206	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs1398829	chr4:22023275-22023276	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs540427555	chr4:22023276-22023277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs185180123	chr4:22023310-22023311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs190476310	chr4:22023344-22023345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs543863849	chr4:22023349-22023350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs4697260	chr4:22023350-22023351	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs530002370	chr4:22023363-22023364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs368669169	chr4:22025223-22025224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs374166018	chr4:22025237-22025238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs557989523	chr4:22025238-22025239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs111282603	chr4:22025239-22025240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs543207744	chr4:22025248-22025249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs369346442	chr4:22025252-22025253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs574580395	chr4:22025257-22025258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs114496678	chr4:22025286-22025287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs75460951	chr4:22025307-22025308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs527639423	chr4:22025354-22025355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs570563351	chr4:22025389-22025390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs368297725	chr4:22025400-22025401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs34444731	chr4:22025437-22025438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs376106741	chr4:22025462-22025463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs552298122	chr4:22025463-22025464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs564792094	chr4:22025476-22025477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs192270473	chr4:22025485-22025486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs538430557	chr4:22025503-22025504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs183997463	chr4:22025539-22025540	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Cancer	22183965	CNVD
Gastric cancer	16891809	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:22022600-22023400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr4:22025200-22025600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:22028600-22028800	Enhancers	H9 Cell Line	embryonic stem cell
4	chr4:22028800-22029000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
5	chr4:22031000-22032000	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr4:22031000-22032200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr4:22031200-22032400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr4:22031600-22031800	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr4:22031600-22032000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr4:22031600-22032200	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr4:22031800-22032000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr4:22031800-22032200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:22045200-22046000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr4:22046200-22047400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr4:22059800-22066400	Weak transcription	Pancreas	Pancrea
16	chr4:22060800-22062200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr4:22062200-22063200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr4:22063200-22066400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr4:22066400-22066600	ZNF genes & repeats	Pancreas	Pancrea
20	chr4:22066400-22073200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr4:22073200-22073800	Enhancers	NHEK	skin
22	chr4:22073200-22074200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr4:22073200-22074400	Enhancers	HMEC	breast
24	chr4:22073400-22074200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr4:22073400-22074400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr4:22074400-22077800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr4:22077800-22078400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr4:22078400-22078800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr4:22078800-22079400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr4:22087200-22087600	Enhancers	HSMMtube	muscle

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