Variant report

Variant	nsv1027033
Chromosome Location	chr7:8351472-8391219
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:22)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:8375674..8377816-chr7:8381555..8383560,2	K562	blood:
2	chr7:8300371..8302802-chr7:8361359..8363095,2	K562	blood:
3	chr1:211555975..211556839-chr7:8358956..8359870,2	Hela-S3	cervix:
4	chr7:8375674..8377816-chr7:8381555..8383560,2	K562	blood:
5	chr7:8354820..8356467-chr7:8360272..8362117,2	K562	blood:
6	chr7:8381608..8383646-chr7:8392163..8393993,2	K562	blood:
7	chr7:8354641..8357967-chr7:8360617..8365260,4	K562	blood:
8	chr7:8372140..8374996-chr7:8377219..8379253,2	MCF-7	breast:
9	chr7:8353412..8355160-chr7:8364967..8367694,2	MCF-7	breast:
10	chr7:8342220..8346219-chr7:8348386..8352683,4	K562	blood:
11	chr7:8346660..8349456-chr7:8350822..8352856,2	K562	blood:
12	chr7:8343127..8345217-chr7:8371849..8373432,2	MCF-7	breast:
13	chr7:8354820..8356467-chr7:8360272..8362117,2	K562	blood:
14	chr7:8353412..8355160-chr7:8364967..8367694,2	MCF-7	breast:
15	chr7:8354641..8357967-chr7:8360617..8365260,4	K562	blood:
16	chr7:8365461..8367052-chr7:8371679..8374090,2	MCF-7	breast:
17	chr7:8343821..8345598-chr7:8381541..8384525,2	K562	blood:
18	chr7:8372140..8374996-chr7:8377219..8379253,2	MCF-7	breast:
19	chr7:8363447..8366490-chr7:8366907..8369516,4	K562	blood:
20	chr7:8363447..8366490-chr7:8366907..8369516,4	K562	blood:
21	chr7:8365461..8367052-chr7:8371679..8374090,2	MCF-7	breast:
22	chr7:8342220..8345291-chr7:8349412..8353003,4	K562	blood:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GLCCI1-2	chr7:8380013-8380186	ENSG00000229970
2	lnc-ICA1-4	chr7:8382797-8382916	NONHSAT119157
3	lnc-GLCCI1-2	chr7:8380647-8380973	ENSG00000229970
4	lnc-NXPH1-2	chr7:8384553-8387652	NONHSAT119158
5	lnc-GLCCI1-2	chr7:8380647-8380856	ENSG00000229970
6	lnc-GLCCI1-2	chr7:8380013-8380186	ENSG00000229970
7	lnc-ICA1-4	chr7:8383337-8384124	NONHSAT119157
8	lnc-GLCCI1-2	chr7:8382755-8382920	ENSG00000229970
9	lnc-GLCCI1-2	chr7:8383337-8384146	ENSG00000229970

No data

Variant related genes	Relation type
ENSG00000003147	chromatin interactions
ENSG00000229970	chromatin interactions
ENSG00000272328	chromatin interactions
ENSG00000244239	chromatin interactions
ENSG00000153363	chromatin interactions
NVL	miRNA target sites
SSFA2	miRNA target sites
ERBB2IP	miRNA target sites
ZSCAN12	miRNA target sites
SMARCC1	miRNA target sites

Extended variants
information (count: 1822 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:1822 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4725080	chr7:8351472-8351473	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs35214736	chr7:8351477-8351478	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs371050702	chr7:8351497-8351498	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs143359862	chr7:8351514-8351515	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs118094072	chr7:8351519-8351520	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs73238489	chr7:8351542-8351543	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs370940529	chr7:8351544-8351545	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs192869709	chr7:8351579-8351580	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs576353193	chr7:8351633-8351634	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs540290272	chr7:8351640-8351641	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs11980274	chr7:8351653-8351654	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs114486596	chr7:8351674-8351675	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs574385988	chr7:8351700-8351701	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs185798510	chr7:8351751-8351752	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs190271680	chr7:8351773-8351774	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs533064769	chr7:8351807-8351808	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs545060822	chr7:8351818-8351819	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs563220100	chr7:8351823-8351824	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs191467379	chr7:8351867-8351868	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs548698825	chr7:8351868-8351869	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs567263164	chr7:8351924-8351925	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs528326471	chr7:8351953-8351954	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs577045683	chr7:8351995-8351996	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs141600467	chr7:8351996-8351997	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs150483458	chr7:8351998-8351999	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs539564652	chr7:8351999-8352000	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs138304118	chr7:8352063-8352064	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs373056633	chr7:8352066-8352067	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs570031427	chr7:8352081-8352082	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs142777619	chr7:8352092-8352093	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs112311321	chr7:8352148-8352149	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs111988555	chr7:8352161-8352162	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs562667185	chr7:8352173-8352174	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs574396158	chr7:8352202-8352203	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs56358028	chr7:8352210-8352211	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs541913618	chr7:8352223-8352224	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs553625738	chr7:8352251-8352252	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs183612481	chr7:8352256-8352257	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs545249538	chr7:8352275-8352276	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs62433230	chr7:8352297-8352298	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs563443449	chr7:8352323-8352324	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs575240143	chr7:8352336-8352337	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs560014437	chr7:8352337-8352338	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs371880084	chr7:8352433-8352434	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs188280464	chr7:8352463-8352464	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs560501042	chr7:8352467-8352468	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs117220542	chr7:8352470-8352471	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs546453756	chr7:8352478-8352479	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs564823708	chr7:8352493-8352494	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs532365511	chr7:8352555-8352556	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
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
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	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
Depressive disorder	21152026	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:8345800-8359000	Weak transcription	K562	blood
2	chr7:8353400-8358800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:8354200-8355200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:8354800-8355000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:8355000-8367800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:8358400-8360000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
7	chr7:8358400-8360400	Enhancers	Placenta	Placenta
8	chr7:8358800-8359800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
9	chr7:8359000-8359400	ZNF genes & repeats	K562	blood
10	chr7:8359400-8359600	Weak transcription	K562	blood
11	chr7:8359600-8360000	Enhancers	K562	blood
12	chr7:8360000-8360200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
13	chr7:8360000-8360200	Flanking Active TSS	K562	blood
14	chr7:8360000-8363200	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr7:8360200-8361400	Weak transcription	K562	blood
16	chr7:8360200-8370200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr7:8360400-8362400	Weak transcription	Placenta	Placenta
18	chr7:8361400-8362800	Enhancers	K562	blood
19	chr7:8361600-8362600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:8361800-8362000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr7:8362000-8362600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr7:8362400-8363600	Enhancers	Placenta	Placenta
23	chr7:8362600-8363000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr7:8362600-8363600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr7:8362800-8391000	Weak transcription	K562	blood
26	chr7:8363000-8363600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:8363200-8363600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
28	chr7:8363600-8365400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr7:8365400-8366000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr7:8370200-8370400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
31	chr7:8370400-8380200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr7:8375400-8383000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr7:8377200-8380000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr7:8378400-8378800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr7:8379400-8382600	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr7:8380000-8381200	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr7:8380200-8380600	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr7:8380200-8382000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
39	chr7:8380200-8384600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr7:8380600-8382800	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr7:8381000-8381200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr7:8381000-8382600	Enhancers	Brain Germinal Matrix	brain
43	chr7:8381200-8382400	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr7:8381400-8382600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr7:8382000-8383400	Enhancers	Brain Hippocampus Middle	brain
46	chr7:8382000-8384000	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr7:8382000-8385000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr7:8382400-8384000	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr7:8382600-8384000	Weak transcription	Brain Germinal Matrix	brain
50	chr7:8382600-8384400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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