Variant report

Variant	esv1793998
Chromosome Location	chr7:120111409-120120322
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:120109721..120112397-chr7:120114908..120116475,2	K562	blood:
2	chr7:120115063..120116822-chr7:120117642..120119650,2	K562	blood:
3	chr2:154750769..154751442-chr7:120117250..120118079,2	MCF-7	breast:
4	chr7:120115577..120117354-chr7:120124597..120127119,2	MCF-7	breast:
5	chr7:120109721..120112397-chr7:120114908..120116475,2	K562	blood:
6	chr7:120115063..120116822-chr7:120117642..120119650,2	K562	blood:

Extended variants
information (count: 338 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:338 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10156120	chr7:120111409-120111410	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs544214537	chr7:120111431-120111432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs140295212	chr7:120111454-120111455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560294617	chr7:120111481-120111482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532701291	chr7:120111491-120111492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552515120	chr7:120111499-120111500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372472495	chr7:120111575-120111576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563169328	chr7:120111597-120111598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531892959	chr7:120111613-120111614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs149968386	chr7:120111674-120111675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs114057584	chr7:120111691-120111692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190809142	chr7:120111724-120111725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547443851	chr7:120111752-120111753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs68060610	chr7:120111770-120111771	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs538796224	chr7:120111784-120111785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs75640234	chr7:120111785-120111786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115834829	chr7:120111801-120111802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537738775	chr7:120111823-120111824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554948920	chr7:120111836-120111837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183446482	chr7:120111856-120111857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540243925	chr7:120111871-120111872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547304639	chr7:120111891-120111892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10239849	chr7:120111905-120111906	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs186627505	chr7:120112001-120112002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545914606	chr7:120112010-120112011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562927734	chr7:120112019-120112020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531974614	chr7:120112046-120112047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542116613	chr7:120112093-120112094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562051483	chr7:120112131-120112132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191128358	chr7:120112164-120112165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538146842	chr7:120112176-120112177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145051317	chr7:120112225-120112226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs66597280	chr7:120112245-120112246	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs533252463	chr7:120112261-120112262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs140516445	chr7:120112310-120112311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs145624258	chr7:120112323-120112324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538043111	chr7:120112352-120112353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554864350	chr7:120112384-120112385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562512314	chr7:120112392-120112393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574137564	chr7:120112402-120112403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533629191	chr7:120112415-120112416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553469769	chr7:120112417-120112418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7785421	chr7:120112432-120112433	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs576896408	chr7:120112442-120112443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545573612	chr7:120112465-120112466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7785571	chr7:120112487-120112488	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs563097955	chr7:120112489-120112490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576519174	chr7:120112491-120112492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542032749	chr7:120112494-120112495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562014521	chr7:120112574-120112575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
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
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	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
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18194544	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Basal cell lymphoma	21115979	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120101800-120117000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:120103800-120122400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr7:120105000-120112600	Weak transcription	GM12878-XiMat	blood
4	chr7:120112400-120120000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr7:120112600-120112800	Active TSS	GM12878-XiMat	blood
6	chr7:120112800-120113200	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
7	chr7:120113200-120113400	Genic enhancers	GM12878-XiMat	blood
8	chr7:120113400-120116800	Enhancers	GM12878-XiMat	blood
9	chr7:120115600-120115800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr7:120115800-120116800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr7:120116000-120116200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr7:120116200-120117200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr7:120116200-120117400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr7:120116600-120117400	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr7:120116600-120117600	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr7:120116800-120117400	Enhancers	H1 Cell Line	embryonic stem cell
17	chr7:120116800-120117400	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr7:120116800-120118000	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr7:120116800-120119400	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr7:120117000-120117400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:120117200-120117400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr7:120117200-120119600	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr7:120117400-120118200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr7:120117400-120118400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr7:120117400-120118600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr7:120117400-120118800	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr7:120117400-120126400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr7:120117600-120118000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr7:120118000-120118800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr7:120118000-120119800	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr7:120118200-120119200	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr7:120118400-120119200	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr7:120118600-120119200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr7:120118800-120119200	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr7:120118800-120119400	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr7:120119200-120126200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr7:120119600-120126200	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr7:120119800-120126200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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