Variant report

Variant	nsv887609
Chromosome Location	chr7:11547284-11581121
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	chr7:11531532..11533937-chr7:11555026..11557667,2	K562	blood:
2	chr7:11556711..11559691-chr7:129780287..129783080,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PHF14-1	chr7:11559679-11559802	ENSG00000230333.1

Variant related genes	Relation type
ENSG00000229196	chromatin interactions

Extended variants
information (count: 1442 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:1442 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6955846	chr7:11547284-11547285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs559499794	chr7:11547291-11547292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528227341	chr7:11547374-11547375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551172026	chr7:11547376-11547377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568689075	chr7:11547377-11547378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186140389	chr7:11547388-11547389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73286808	chr7:11547429-11547430	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs190960405	chr7:11547440-11547441	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs112630294	chr7:11547454-11547455	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs182745851	chr7:11547464-11547465	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs566574787	chr7:11547467-11547468	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs185880963	chr7:11547475-11547476	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs559208489	chr7:11547500-11547501	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs569542481	chr7:11547553-11547554	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs371079918	chr7:11547569-11547570	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs547411439	chr7:11547572-11547573	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs10249723	chr7:11547580-11547581	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs554448389	chr7:11547586-11547587	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs191170169	chr7:11547587-11547588	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs12667422	chr7:11547597-11547598	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs574787806	chr7:11547600-11547601	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs540627739	chr7:11547647-11547648	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs571013393	chr7:11547658-11547659	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs367687319	chr7:11547675-11547676	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs553937651	chr7:11547681-11547682	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs183437777	chr7:11547686-11547687	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs540114535	chr7:11547702-11547703	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs544777065	chr7:11547785-11547786	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs567630471	chr7:11547788-11547789	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs564767802	chr7:11547794-11547795	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs187555459	chr7:11547806-11547807	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs113144705	chr7:11547807-11547808	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs544219605	chr7:11547839-11547840	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs116418839	chr7:11547846-11547847	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs556613952	chr7:11547874-11547875	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs374301598	chr7:11547891-11547892	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs567473271	chr7:11547918-11547919	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs376621752	chr7:11547930-11547931	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs13230898	chr7:11547953-11547954	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs566536286	chr7:11547975-11547976	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs532264809	chr7:11547982-11547983	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs78321217	chr7:11548020-11548021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs569514250	chr7:11548068-11548069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs145907622	chr7:11548071-11548072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs10250329	chr7:11548082-11548083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs568748427	chr7:11548117-11548118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs533906804	chr7:11548122-11548123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs553771786	chr7:11548136-11548137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs192775562	chr7:11548160-11548161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs545928426	chr7:11548163-11548164	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Autism	22495309	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Glioblastoma multiforme	17002787	CNVD
Melanoma	20877625	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:223 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11544000-11547400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr7:11544400-11547400	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr7:11544400-11549000	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr7:11544800-11549000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr7:11545000-11547400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:11546200-11548400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr7:11546800-11547400	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr7:11547000-11548000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:11547200-11547400	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr7:11547400-11547600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr7:11547400-11547800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr7:11547400-11548400	Enhancers	H1 Cell Line	embryonic stem cell
13	chr7:11547400-11548400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr7:11547400-11548600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:11547600-11547800	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr7:11547600-11548000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr7:11547600-11548400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr7:11547800-11548000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr7:11547800-11549000	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr7:11548000-11548400	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr7:11553000-11553600	Enhancers	Liver	Liver
22	chr7:11553600-11555800	Weak transcription	Liver	Liver
23	chr7:11555400-11555600	Enhancers	Fetal Lung	lung
24	chr7:11555600-11577800	Weak transcription	Fetal Lung	lung
25	chr7:11555800-11556000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:11555800-11556600	Enhancers	Liver	Liver
27	chr7:11556000-11556200	Enhancers	H9 Cell Line	embryonic stem cell
28	chr7:11556000-11556200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr7:11556000-11556200	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr7:11556200-11557400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:11556200-11557400	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr7:11556200-11557600	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr7:11556400-11557400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr7:11556600-11560800	Weak transcription	Liver	Liver
35	chr7:11557200-11558200	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr7:11557400-11558000	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr7:11557400-11558000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr7:11557400-11558200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr7:11557400-11558200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:11557400-11558200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr7:11557400-11558200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr7:11557400-11558400	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr7:11557400-11558400	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr7:11557400-11558400	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr7:11557400-11558800	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr7:11557600-11558000	Enhancers	H9 Cell Line	embryonic stem cell
47	chr7:11557600-11558200	Enhancers	H1 Cell Line	embryonic stem cell
48	chr7:11557600-11558200	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr7:11557600-11558200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr7:11558000-11569000	Weak transcription	H9 Cell Line	embryonic stem cell

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