Variant report

Variant	esv3371368
Chromosome Location	chr7:100510316-100511714
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:100507577..100512312-chr7:100514268..100518722,4	K562	blood:
2	chr7:100500464..100503026-chr7:100509037..100510644,2	MCF-7	breast:
3	chr7:100486728..100489422-chr7:100510624..100512733,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000176125	chromatin interactions

Extended variants
information (count: 51 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573298232	chr7:100510321-100510322	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs540588963	chr7:100510322-100510323	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs375947435	chr7:100510355-100510356	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs369840430	chr7:100510372-100510373	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs576872277	chr7:100510437-100510438	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs56263380	chr7:100510438-100510439	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs150111417	chr7:100510448-100510449	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs191039667	chr7:100510451-100510452	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs397772927	chr7:100510452-100510453	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs58374260	chr7:100510453-100510454	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs530603429	chr7:100510504-100510505	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs552270446	chr7:100510695-100510696	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs199818663	chr7:100510714-100510715	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs200505496	chr7:100510717-100510718	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs66602512	chr7:100510723-100510724	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs58250337	chr7:100510730-100510731	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs138540133	chr7:100510843-100510844	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs528083742	chr7:100510894-100510895	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs546228855	chr7:100510904-100510905	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs567714236	chr7:100510977-100510978	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs200253082	chr7:100510989-100510990	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs149241146	chr7:100511019-100511020	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs146187511	chr7:100511033-100511034	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs139381883	chr7:100511048-100511049	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs9655767	chr7:100511078-100511079	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs9655768	chr7:100511080-100511081	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs539620043	chr7:100511093-100511094	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs181688591	chr7:100511141-100511142	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs57066808	chr7:100511153-100511154	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs115176808	chr7:100511162-100511163	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs184424590	chr7:100511237-100511238	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs142669525	chr7:100511243-100511244	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs11978697	chr7:100511253-100511254	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs563403327	chr7:100511283-100511284	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs554247529	chr7:100511295-100511296	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs116917882	chr7:100511354-100511355	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs117117110	chr7:100511372-100511373	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs56959639	chr7:100511382-100511383	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs546265583	chr7:100511417-100511418	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs189528509	chr7:100511434-100511435	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs528821655	chr7:100511454-100511455	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs80070407	chr7:100511516-100511517	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs201095605	chr7:100511534-100511535	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs370029553	chr7:100511547-100511548	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs551276387	chr7:100511571-100511572	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs569405849	chr7:100511613-100511614	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs542092500	chr7:100511627-100511628	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs540036186	chr7:100511687-100511688	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs71557208	chr7:100511694-100511695	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs551730192	chr7:100511702-100511703	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
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
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
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	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
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	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
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Breast cancer	21509527	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100504200-100511200	Weak transcription	Gastric	stomach
2	chr7:100504200-100516400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:100507600-100510400	Enhancers	Stomach Mucosa	stomach
4	chr7:100507800-100510400	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr7:100507800-100513800	Weak transcription	Colonic Mucosa	Colon
6	chr7:100508400-100514000	Weak transcription	K562	blood
7	chr7:100508600-100510400	Enhancers	Placenta	Placenta
8	chr7:100509600-100510400	Enhancers	Pancreas	Pancrea
9	chr7:100510000-100510400	Active TSS	Duodenum Mucosa	Duodenum
10	chr7:100510000-100510400	Flanking Active TSS	Fetal Intestine Large	intestine
11	chr7:100510000-100510600	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr7:100510000-100510600	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr7:100510000-100510600	Enhancers	Liver	Liver
14	chr7:100510000-100510600	Enhancers	HepG2	liver
15	chr7:100510200-100510400	Enhancers	Primary hematopoietic stem cells	blood
16	chr7:100510200-100510400	Active TSS	Fetal Intestine Small	intestine
17	chr7:100510200-100510600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr7:100510400-100510600	Enhancers	Fetal Intestine Large	intestine
19	chr7:100510400-100511000	Weak transcription	Stomach Mucosa	stomach
20	chr7:100510400-100511200	Weak transcription	Fetal Intestine Small	intestine
21	chr7:100510400-100511400	Weak transcription	Duodenum Mucosa	Duodenum
22	chr7:100510400-100511600	Weak transcription	Pancreas	Pancrea
23	chr7:100510400-100514000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr7:100510400-100514200	Weak transcription	Placenta	Placenta
25	chr7:100510600-100511000	Weak transcription	Liver	Liver
26	chr7:100510600-100511000	Weak transcription	Fetal Intestine Large	intestine
27	chr7:100510600-100511000	Weak transcription	HepG2	liver
28	chr7:100510600-100512400	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr7:100510600-100512600	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr7:100511000-100512200	Enhancers	HepG2	liver
31	chr7:100511000-100513000	Enhancers	Liver	Liver
32	chr7:100511000-100513000	Enhancers	Fetal Intestine Large	intestine
33	chr7:100511000-100513000	Enhancers	Stomach Mucosa	stomach
34	chr7:100511200-100512600	Enhancers	Fetal Intestine Small	intestine
35	chr7:100511200-100512800	Enhancers	Gastric	stomach
36	chr7:100511400-100512200	Enhancers	Duodenum Mucosa	Duodenum
37	chr7:100511600-100513000	Enhancers	Pancreas	Pancrea

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