Variant report

Variant	nsv1028300
Chromosome Location	chr7:3181785-3196557
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:12)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:3184853..3186673-chr7:3189363..3191376,2	K562	blood:
2	chr7:3105018..3105890-chr7:3193882..3195188,3	MCF-7	breast:
3	chr7:3172781..3176010-chr7:3179517..3182340,3	K562	blood:
4	chr7:2904357..2905298-chr7:3194209..3195076,4	K562	blood:
5	chr7:2926262..2927534-chr7:3194238..3195613,6	MCF-7	breast:
6	chr7:3105046..3105933-chr7:3194248..3194999,3	K562	blood:
7	chr7:3104949..3105997-chr7:3194351..3195035,3	MCF-7	breast:
8	chr7:2925307..2926930-chr7:3193219..3196331,3	MCF-7	breast:
9	chr7:3194262..3194922-chr7:3439333..3439841,2	MCF-7	breast:
10	chr7:3194510..3195232-chr7:3340158..3340723,2	MCF-7	breast:
11	chr7:2710484..2711053-chr7:3194317..3194955,2	K562	blood:
12	chr7:3184853..3186673-chr7:3189363..3191376,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC091801.1.1-1	chr7:3186629-3186905	NONHSAT118844
2	lnc-AC091801.1.1-1	chr7:3186629-3186905	XLOC_006339

No data

Extended variants
information (count: 870 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:870 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17175397	chr7:3181785-3181786	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs571024997	chr7:3181790-3181791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575010569	chr7:3181810-3181811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376597510	chr7:3181814-3181815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544140957	chr7:3181822-3181823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs6970151	chr7:3181823-3181824	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs551976973	chr7:3181871-3181872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs143351726	chr7:3181897-3181898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs6970315	chr7:3181911-3181912	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs73672263	chr7:3181916-3181917	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs528052369	chr7:3181918-3181919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192173773	chr7:3181945-3181946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568073984	chr7:3181951-3181952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184065001	chr7:3181955-3181956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537987606	chr7:3181982-3181983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536939389	chr7:3181989-3181990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs6970481	chr7:3181997-3181998	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs73672264	chr7:3182006-3182007	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs148341391	chr7:3182015-3182016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188051844	chr7:3182040-3182041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576281629	chr7:3182046-3182047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568035422	chr7:3182053-3182054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs73672265	chr7:3182076-3182077	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs535147487	chr7:3182095-3182096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs6970611	chr7:3182101-3182102	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs574815656	chr7:3182121-3182122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141207526	chr7:3182137-3182138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192975427	chr7:3182191-3182192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs147702338	chr7:3182192-3182193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs377462597	chr7:3182195-3182196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577485106	chr7:3182215-3182216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546431848	chr7:3182243-3182244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370644581	chr7:3182244-3182245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs146944488	chr7:3182256-3182257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528151079	chr7:3182306-3182307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548310649	chr7:3182312-3182313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138007114	chr7:3182331-3182332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs73672267	chr7:3182363-3182364	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs80103875	chr7:3182404-3182405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566746750	chr7:3182428-3182429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs75147882	chr7:3182429-3182430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114132845	chr7:3182434-3182435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376860044	chr7:3182451-3182452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143458953	chr7:3182463-3182464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542882753	chr7:3182465-3182466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372365515	chr7:3182469-3182470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147135886	chr7:3182477-3182478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs527717195	chr7:3182486-3182487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111872010	chr7:3182501-3182502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552972347	chr7:3182517-3182518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Chordoma	21602918	CNVD
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	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
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Nasopharyngeal cancer	20548289	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
Spondylocostal dysostosis	21085971	CNVD
Mental retardation	17901693	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	22286061	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3169800-3189400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:3178400-3204600	Weak transcription	Right Atrium	heart
3	chr7:3180000-3183200	Weak transcription	Brain Germinal Matrix	brain
4	chr7:3180600-3183200	Weak transcription	Fetal Brain Male	brain
5	chr7:3180800-3183600	Weak transcription	Fetal Stomach	stomach
6	chr7:3183200-3184200	Enhancers	Fetal Brain Male	brain
7	chr7:3183200-3185200	Enhancers	Brain Germinal Matrix	brain
8	chr7:3183400-3184400	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr7:3183600-3184000	Enhancers	Brain Hippocampus Middle	brain
10	chr7:3183600-3184400	Enhancers	Brain Anterior Caudate	brain
11	chr7:3183600-3184600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr7:3183600-3184600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr7:3183600-3184600	Enhancers	Fetal Brain Female	brain
14	chr7:3183600-3184600	Enhancers	Fetal Heart	heart
15	chr7:3183600-3184600	Enhancers	Fetal Stomach	stomach
16	chr7:3183800-3184600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:3183800-3184600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr7:3183800-3184600	Enhancers	Fetal Muscle Leg	muscle
19	chr7:3184400-3185200	Enhancers	Pancreas	Pancrea
20	chr7:3185000-3185400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr7:3185200-3186000	Weak transcription	Brain Germinal Matrix	brain
22	chr7:3185400-3185800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr7:3185600-3186200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr7:3185800-3187400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr7:3185800-3187800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr7:3186000-3186200	Enhancers	Brain Germinal Matrix	brain
27	chr7:3186000-3186200	Enhancers	A549	lung
28	chr7:3186000-3187000	Enhancers	K562	blood
29	chr7:3186000-3187200	Enhancers	Primary hematopoietic stem cells	blood
30	chr7:3186200-3187000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr7:3186200-3187000	Flanking Active TSS	A549	lung
32	chr7:3186200-3187600	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr7:3186200-3192600	Weak transcription	Brain Germinal Matrix	brain
34	chr7:3186400-3186800	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr7:3186600-3187000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
36	chr7:3186600-3187000	Enhancers	NH-A	brain
37	chr7:3187000-3187800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr7:3187200-3189000	Weak transcription	Primary hematopoietic stem cells	blood
39	chr7:3187400-3188800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr7:3187600-3188600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr7:3187800-3188800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr7:3187800-3189200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr7:3188600-3191600	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr7:3188800-3189600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr7:3188800-3191000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr7:3189000-3190000	Enhancers	Fetal Thymus	thymus
47	chr7:3189000-3191400	Enhancers	Primary hematopoietic stem cells	blood
48	chr7:3189200-3190000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr7:3189200-3192200	Enhancers	Primary B cells from cord blood	blood
50	chr7:3189400-3190000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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