Variant report

Variant	nsv970413
Chromosome Location	chr7:66808251-66815088
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:6)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:66806712..66809740-chr7:66809964..66812550,3	K562	blood:
2	chr7:66806712..66809740-chr7:66809964..66812550,3	K562	blood:
3	chr11:62608643..62609199-chr7:66814526..66815045,2	HCT-116	colon:
4	chr7:66805031..66806726-chr7:66806842..66808833,2	K562	blood:
5	chr7:66808425..66811415-chr7:66821937..66824541,2	K562	blood:
6	chr7:66805244..66806812-chr7:66806851..66808891,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-STAG3L4-1	chr7:66807824-66808421	NONHSAT121283
2	lnc-STAG3L4-6	chr7:66814559-66815590	NONHSAT121285
3	lnc-STAG3L4-1	chr7:66809042-66809767	NONHSAT121283

No data

Extended variants
information (count: 249 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:249 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537764295	chr7:66808256-66808257	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
2	rs370147102	chr7:66808297-66808298	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
3	rs181168085	chr7:66808370-66808371	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
4	rs113544174	chr7:66808447-66808448	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs184019458	chr7:66808474-66808475	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs188748703	chr7:66808519-66808520	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs557045632	chr7:66808550-66808551	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs74713914	chr7:66808632-66808633	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs533447792	chr7:66808636-66808637	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs550145200	chr7:66808656-66808657	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs570228004	chr7:66808670-66808671	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs141646481	chr7:66808684-66808685	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs549707205	chr7:66808736-66808737	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs566342034	chr7:66808774-66808775	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs4718536	chr7:66808789-66808790	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs111848558	chr7:66808812-66808813	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs553550817	chr7:66808843-66808844	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs577699755	chr7:66808859-66808860	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs4718537	chr7:66808901-66808902	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs556926912	chr7:66808928-66808929	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs573786312	chr7:66808930-66808931	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs542375342	chr7:66808954-66808955	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs76667881	chr7:66809030-66809031	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
24	rs182066094	chr7:66809038-66809039	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
25	rs541059090	chr7:66809056-66809057	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
26	rs541184400	chr7:66809083-66809084	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
27	rs564127269	chr7:66809106-66809107	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
28	rs75544903	chr7:66809111-66809112	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
29	rs533308320	chr7:66809125-66809126	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
30	rs554817346	chr7:66809141-66809142	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
31	rs115128659	chr7:66809148-66809149	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
32	rs75999731	chr7:66809235-66809236	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	mRNA abundance
33	rs529504442	chr7:66809249-66809250	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
34	rs55892704	chr7:66809274-66809275	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
35	rs113997011	chr7:66809278-66809279	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
36	rs147074329	chr7:66809286-66809287	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
37	rs543725390	chr7:66809290-66809291	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
38	rs551436961	chr7:66809292-66809293	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
39	rs117192614	chr7:66809299-66809300	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
40	rs368345418	chr7:66809327-66809328	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
41	rs148084370	chr7:66809346-66809347	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
42	rs557030855	chr7:66809357-66809358	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
43	rs78629091	chr7:66809439-66809440	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	mRNA abundance
44	rs4521652	chr7:66809503-66809504	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs187044327	chr7:66809504-66809505	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
46	rs192211487	chr7:66809606-66809607	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
47	rs544896353	chr7:66809670-66809671	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
48	rs73148491	chr7:66809672-66809673	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs723684	chr7:66809716-66809717	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs763690	chr7:66809748-66809749	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
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
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	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
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neurodevelopmental disorder	22521361	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	20668451	CNVD
Prostate cancer	20601956	CNVD
Nasopharyngeal cancer	22815911	CNVD
Prostate cancer	21248069	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Prostate cancer	17297502	CNVD

Chromatin state (count:203 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66778800-66809000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:66780400-66809400	Weak transcription	A549	lung
3	chr7:66781400-66810200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr7:66782800-66809400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr7:66785800-66816200	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr7:66786000-66809400	Weak transcription	Dnd41	blood
7	chr7:66786200-66809400	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr7:66786800-66809400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr7:66800000-66808400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:66801000-66808600	Weak transcription	Aorta	Aorta
11	chr7:66801000-66809200	Weak transcription	Esophagus	oesophagus
12	chr7:66801200-66812000	Weak transcription	Gastric	stomach
13	chr7:66802000-66809000	Weak transcription	NHEK	skin
14	chr7:66802400-66808600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr7:66802600-66809600	Weak transcription	Primary hematopoietic stem cells	blood
16	chr7:66802600-66811800	Weak transcription	Stomach Mucosa	stomach
17	chr7:66802800-66814800	Weak transcription	HSMMtube	muscle
18	chr7:66803200-66811600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr7:66803400-66809000	Weak transcription	Colon Smooth Muscle	Colon
20	chr7:66804400-66809800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr7:66804400-66810000	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr7:66804400-66810200	Strong transcription	Fetal Intestine Large	intestine
23	chr7:66804600-66809800	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
24	chr7:66804600-66810400	Strong transcription	Primary T cells from cord blood	blood
25	chr7:66804600-66811200	Strong transcription	Duodenum Mucosa	Duodenum
26	chr7:66804800-66809400	Strong transcription	Stomach Smooth Muscle	stomach
27	chr7:66804800-66809600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr7:66805200-66808400	Weak transcription	Lung	lung
29	chr7:66805200-66808600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr7:66805200-66808600	Weak transcription	Fetal Brain Female	brain
31	chr7:66805200-66808600	Weak transcription	Spleen	Spleen
32	chr7:66805200-66808800	Weak transcription	Psoas Muscle	Psoas
33	chr7:66805200-66809200	Weak transcription	Liver	Liver
34	chr7:66805200-66809600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr7:66805200-66816200	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr7:66805400-66808400	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr7:66805400-66809000	Weak transcription	Fetal Heart	heart
38	chr7:66805400-66809200	Weak transcription	Ovary	ovary
39	chr7:66805800-66808600	Weak transcription	Left Ventricle	heart
40	chr7:66806200-66813400	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr7:66806400-66809600	Weak transcription	Brain Substantia Nigra	brain
42	chr7:66806600-66808400	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr7:66806600-66809600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr7:66806600-66810000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr7:66806800-66809400	Weak transcription	Primary B cells from peripheral blood	blood
46	chr7:66807000-66809200	Weak transcription	Fetal Intestine Small	intestine
47	chr7:66807000-66809200	Weak transcription	Fetal Kidney	kidney
48	chr7:66807000-66809400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr7:66807000-66809400	Weak transcription	Placenta	Placenta
50	chr7:66807200-66808400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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