Variant report

Variant	nsv605975
Chromosome Location	chr7:4608174-4669136
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:26)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:4650149..4651186-chr7:4670931..4671949,8	K562	blood:
2	chr7:4665293..4667661-chr7:4670149..4671688,2	MCF-7	breast:
3	chr4:64881179..64881844-chr7:4666756..4667503,2	MCF-7	breast:
4	chr7:4651116..4651675-chr7:4792877..4793723,2	MCF-7	breast:
5	chr7:4658170..4661953-chr7:4663790..4665760,3	MCF-7	breast:
6	chr7:4646417..4649112-chr7:4669955..4672673,2	MCF-7	breast:
7	chr7:4650192..4651154-chr7:5124831..5125751,2	K562	blood:
8	chr7:4659682..4660358-chr7:4671027..4671633,2	MCF-7	breast:
9	chr7:4642981..4645443-chr7:4649025..4651972,2	K562	blood:
10	chr7:4650266..4651114-chr7:4793024..4794119,8	MCF-7	breast:
11	chr7:4650202..4651173-chr7:4793198..4794220,6	K562	blood:
12	chr7:4613003..4615813-chr7:4681464..4683495,2	MCF-7	breast:
13	chr7:4669014..4671199-chr7:4671305..4674228,2	K562	blood:
14	chr7:4649069..4651516-chr7:4792716..4794957,2	MCF-7	breast:
15	chr7:4650215..4651217-chr7:4670962..4672255,11	MCF-7	breast:
16	chr7:4652575..4653527-chr7:4793235..4794202,2	K562	blood:
17	chr7:4660303..4661010-chr7:4722806..4723628,2	MCF-7	breast:
18	chr7:4646574..4649257-chr7:4668274..4670356,2	K562	blood:
19	chr7:4659487..4661247-chr7:4813243..4815825,2	MCF-7	breast:
20	chr7:4650125..4650826-chr7:4837448..4838412,2	K562	blood:
21	chr7:4642981..4645443-chr7:4649025..4651972,2	K562	blood:
22	chr7:4650210..4650944-chr7:4922964..4923496,2	MCF-7	breast:
23	chr7:4651340..4654171-chr7:4723682..4726491,2	K562	blood:
24	chr7:4646574..4649257-chr7:4668274..4670356,2	K562	blood:
25	chr7:4654217..4655804-chr7:4681235..4683651,2	MCF-7	breast:
26	chr7:4658170..4661953-chr7:4663790..4665760,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RADIL-2	chr7:4645446-4645678	XLOC_006345
2	lnc-RADIL-2	chr7:4645445-4645678	FPKM1_group_29021_transcript_1
3	lnc-RADIL-2	chr7:4645445-4645678	NONHSAT118868
4	lnc-RADIL-2	chr7:4646510-4646515	FPKM1_group_29021_transcript_1
5	lnc-RADIL-2	chr7:4646511-4646569	XLOC_006345
6	lnc-RADIL-2	chr7:4646510-4646569	NONHSAT118868

No data

Variant related genes	Relation type
ENSG00000157927	chromatin interactions
ENSG00000242802	chromatin interactions
ENSG00000164916	chromatin interactions
TXNRD1	miRNA target sites
TTC30A	miRNA target sites

Extended variants
information (count: 1874 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:1874 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540333415	chr7:4613049-4613050	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs533405317	chr7:4613053-4613054	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs377050207	chr7:4613055-4613056	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs181583303	chr7:4613056-4613057	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs185753299	chr7:4613059-4613060	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs190117527	chr7:4613063-4613064	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs570390617	chr7:4613074-4613075	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs531564755	chr7:4613076-4613077	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs182389232	chr7:4613081-4613082	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs368665723	chr7:4613102-4613103	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs188221072	chr7:4613136-4613137	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs537721751	chr7:4613150-4613151	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs555940065	chr7:4613159-4613160	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs190894774	chr7:4613162-4613163	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs62450797	chr7:4613163-4613164	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs182774660	chr7:4613172-4613173	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs10241384	chr7:4613208-4613209	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs10241385	chr7:4613209-4613210	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs569183783	chr7:4613214-4613215	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs117203960	chr7:4613217-4613218	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs376836403	chr7:4613242-4613243	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs552835408	chr7:4613264-4613265	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs578088500	chr7:4613310-4613311	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs188838137	chr7:4613311-4613312	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs1880121	chr7:4613341-4613342	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs553966453	chr7:4613342-4613343	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs574027466	chr7:4613435-4613436	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs146743593	chr7:4613439-4613440	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs562805245	chr7:4613477-4613478	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs78388986	chr7:4613522-4613523	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs192432281	chr7:4613596-4613597	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs7798264	chr7:4613607-4613608	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs527455426	chr7:4613610-4613611	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs73672302	chr7:4613620-4613621	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs560815596	chr7:4613641-4613642	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs199793499	chr7:4613649-4613650	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs529718748	chr7:4613716-4613717	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs549350845	chr7:4613717-4613718	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs113130188	chr7:4613725-4613726	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs569274517	chr7:4613728-4613729	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs549546266	chr7:4613738-4613739	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs112143079	chr7:4613743-4613744	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs112938872	chr7:4613750-4613751	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs62450798	chr7:4613793-4613794	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs376997029	chr7:4613810-4613811	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs554270312	chr7:4613821-4613822	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs574035272	chr7:4613831-4613832	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs536712490	chr7:4613847-4613848	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs187391545	chr7:4613887-4613888	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs7786184	chr7:4613891-4613892	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:77)

Disease	PMID	Source
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
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
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
Urothelial carcinoma	21177765	CNVD
Glioblastoma multiforme	21525872	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Cancer	20164919	CNVD

Chromatin state (count:549 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4618000-4618800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:4618200-4619200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:4619200-4621400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:4621400-4621600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:4621800-4622000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
6	chr7:4640000-4640400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr7:4640400-4642400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr7:4641800-4642800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr7:4641800-4643000	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr7:4642000-4642800	Enhancers	Fetal Brain Female	brain
11	chr7:4642200-4644000	Enhancers	Fetal Brain Male	brain
12	chr7:4642400-4642800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr7:4642400-4643000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr7:4642600-4642800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr7:4642600-4642800	Enhancers	Pancreas	Pancrea
16	chr7:4642600-4643000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:4642800-4643600	Weak transcription	Pancreas	Pancrea
18	chr7:4642800-4645800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr7:4642800-4646600	Weak transcription	Fetal Brain Female	brain
20	chr7:4643000-4644000	ZNF genes & repeats	Fetal Kidney	kidney
21	chr7:4643000-4646200	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr7:4643600-4644000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:4643600-4644000	ZNF genes & repeats	Pancreas	Pancrea
24	chr7:4644000-4646800	Weak transcription	Fetal Brain Male	brain
25	chr7:4644000-4646800	Weak transcription	Fetal Kidney	kidney
26	chr7:4646200-4646600	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr7:4646200-4646600	Enhancers	Brain Substantia Nigra	brain
28	chr7:4646200-4647400	Enhancers	Esophagus	oesophagus
29	chr7:4646200-4647600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:4646400-4646600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr7:4646400-4646600	Enhancers	Brain Germinal Matrix	brain
32	chr7:4646400-4646600	Enhancers	Brain Hippocampus Middle	brain
33	chr7:4646400-4646800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr7:4646400-4647000	Active TSS	Brain Anterior Caudate	brain
35	chr7:4646400-4647000	Active TSS	Brain Cingulate Gyrus	brain
36	chr7:4646600-4646800	Flanking Active TSS	Brain Hippocampus Middle	brain
37	chr7:4646600-4646800	Active TSS	Brain Inferior Temporal Lobe	brain
38	chr7:4646600-4647000	Active TSS	Brain Substantia Nigra	brain
39	chr7:4646600-4647000	Active TSS	Fetal Brain Female	brain
40	chr7:4646600-4647200	Flanking Active TSS	Brain Germinal Matrix	brain
41	chr7:4646600-4647400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr7:4646600-4647400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr7:4646800-4647000	Bivalent Enhancer	HepG2	liver
44	chr7:4646800-4647200	Bivalent/Poised TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr7:4646800-4647200	Active TSS	Brain Angular Gyrus	brain
46	chr7:4646800-4647200	Active TSS	Brain Hippocampus Middle	brain
47	chr7:4646800-4647200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
48	chr7:4646800-4647200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr7:4646800-4647200	Enhancers	Placenta	Placenta
50	chr7:4646800-4647200	Enhancers	Skeletal Muscle Female	skeletal muscle

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