Variant report

Variant	nsv612230
Chromosome Location	chr8:130624121-130661901
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:11)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:130632699..130634213-chr8:130638676..130640504,2	K562	blood:
2	chr8:130632699..130634213-chr8:130638676..130640504,2	K562	blood:
3	chr8:130646298..130649047-chr8:130652440..130655426,2	K562	blood:
4	chr8:130564817..130567306-chr8:130626879..130628964,2	K562	blood:
5	chr8:130661192..130664016-chr8:130665123..130667004,3	K562	blood:
6	chr8:130646298..130649047-chr8:130652440..130655426,2	K562	blood:
7	chr8:130626321..130628094-chr8:130634050..130635851,2	K562	blood:
8	chr8:130626321..130628094-chr8:130634050..130635851,2	K562	blood:
9	chr8:130649580..130655005-chr8:130656541..130661104,6	K562	blood:
10	chr8:130649580..130655005-chr8:130656541..130661104,6	K562	blood:
11	chr8:130660996..130663314-chr8:130665198..130667685,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GSDMC-7	chr8:130630695-130631129	expReg_chr8_7058_-
2	lnc-GSDMC-6	chr8:130633688-130634496	expReg_chr8_7061_-
3	lnc-GSDMC-8	chr8:130624563-130624876	expReg_chr8_7045_-

No data

Extended variants
information (count: 1161 )
Associated
traits (count: 154 )

Variant overlapped rSNPs/rCNVs (count:1161 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138121296	chr8:130624584-130624585	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs545687298	chr8:130624647-130624648	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs10092988	chr8:130624661-130624662	Inactive region	lncRNA	n/a	Overlapped CNVs	mRNA abundance
4	rs149564013	chr8:130624674-130624675	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs376750112	chr8:130624677-130624678	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs191344191	chr8:130624696-130624697	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs143165696	chr8:130624712-130624713	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs370993071	chr8:130624715-130624716	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs138749828	chr8:130624790-130624791	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs183641706	chr8:130624806-130624807	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs565823185	chr8:130624807-130624808	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs1982094	chr8:130624816-130624817	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs141878543	chr8:130624859-130624860	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs114066593	chr8:130626044-130626045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs189833558	chr8:130626051-130626052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565407207	chr8:130626088-130626089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs1433585	chr8:130626097-130626098	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs139448540	chr8:130626105-130626106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs533022435	chr8:130626112-130626113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576595777	chr8:130626136-130626137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs532881166	chr8:130626157-130626158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs10100356	chr8:130626164-130626165	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs149671072	chr8:130626185-130626186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs7825384	chr8:130626241-130626242	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs546513629	chr8:130626252-130626253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs147780623	chr8:130626268-130626269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs571404621	chr8:130626282-130626283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538693758	chr8:130626302-130626303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557595255	chr8:130626369-130626370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs569449424	chr8:130626414-130626415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192547154	chr8:130626440-130626441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560028115	chr8:130626450-130626451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184218406	chr8:130626468-130626469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540670648	chr8:130626487-130626488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111455565	chr8:130626534-130626535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576933940	chr8:130626552-130626553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188944457	chr8:130626558-130626559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563158178	chr8:130626638-130626639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530652279	chr8:130626664-130626665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs143538614	chr8:130626674-130626675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531797493	chr8:130626787-130626788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542435448	chr8:130626819-130626820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs77527100	chr8:130626828-130626829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528364503	chr8:130626885-130626886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs1469737	chr8:130626936-130626937	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs564825074	chr8:130626971-130626972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532268953	chr8:130626978-130626979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs562040503	chr8:130627004-130627005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs16904125	chr8:130627021-130627022	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs368414448	chr8:130627022-130627023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:154)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	17603634	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	20729466	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Malignant melanoma	17260012	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute myeloid leukemia	18379011	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	22048815	CNVD
Colorectal cancer	16912164	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	21148746	CNVD
Lung cancer	21911935	CNVD
Breast cancer	20459607	CNVD
Medulloblastoma	19270706	CNVD
Acute myeloid leukemia	19651601	CNVD
Colorectal cancer	21645411	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	22860045	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Lung cancer	17925434	CNVD
Non-small cell lung cancer	21829676	CNVD
Prostate cancer	17217626	CNVD
Cancer	17160897	CNVD
Breast cancer	16497871	CNVD
Colorectal cancer	16882699	CNVD
Cystic fibrosis	19273617	CNVD
Chronic stroke	19622162	CNVD
Chordoma	18071362	CNVD
Breast cancer	17850661	CNVD
head and neck squamous cell carcinoma	16740747	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	16272173	CNVD
Uveal melanoma	20484589	CNVD
Ovarian cancer	20844748	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	16620391	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21611746	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:167 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130626000-130626200	Enhancers	Fetal Lung	lung
2	chr8:130626200-130626400	Enhancers	Dnd41	blood
3	chr8:130626400-130628400	Weak transcription	Fetal Lung	lung
4	chr8:130626400-130629400	Weak transcription	Dnd41	blood
5	chr8:130626800-130627200	Enhancers	A549	lung
6	chr8:130627000-130627400	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr8:130627000-130627400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr8:130627400-130629600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr8:130628200-130628800	Enhancers	Lung	lung
10	chr8:130628400-130628800	Enhancers	Fetal Muscle Leg	muscle
11	chr8:130628400-130629000	Enhancers	Fetal Stomach	stomach
12	chr8:130628400-130629600	Enhancers	Fetal Lung	lung
13	chr8:130629400-130629800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr8:130629400-130629800	Genic enhancers	Dnd41	blood
15	chr8:130629600-130630000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr8:130629800-130632000	Enhancers	Dnd41	blood
17	chr8:130630000-130632400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr8:130632000-130632200	Weak transcription	Dnd41	blood
19	chr8:130632200-130632800	ZNF genes & repeats	Dnd41	blood
20	chr8:130632400-130633000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr8:130632800-130634400	Weak transcription	Dnd41	blood
22	chr8:130633000-130636800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr8:130633200-130633400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr8:130633200-130633400	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
25	chr8:130634400-130635200	Enhancers	Dnd41	blood
26	chr8:130634600-130635000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr8:130634600-130635000	Active TSS	A549	lung
28	chr8:130636800-130651600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr8:130638200-130638400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr8:130638200-130638400	Enhancers	Brain Cingulate Gyrus	brain
31	chr8:130638200-130638600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr8:130638200-130647600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr8:130638600-130639800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr8:130638600-130642800	Enhancers	NHEK	skin
35	chr8:130638800-130639200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr8:130638800-130639400	Weak transcription	Brain Cingulate Gyrus	brain
37	chr8:130638800-130640200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr8:130638800-130642800	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr8:130639000-130639800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr8:130639200-130639600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr8:130639400-130639800	Enhancers	Brain Cingulate Gyrus	brain
42	chr8:130639400-130640200	Enhancers	Fetal Muscle Leg	muscle
43	chr8:130639400-130640400	Enhancers	K562	blood
44	chr8:130639400-130641400	Enhancers	Brain Germinal Matrix	brain
45	chr8:130639600-130640000	Bivalent Enhancer	Osteobl	bone
46	chr8:130639600-130640400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr8:130639600-130642600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr8:130639600-130642600	Enhancers	HMEC	breast
49	chr8:130639800-130640000	Enhancers	NH-A	brain
50	chr8:130639800-130640200	Enhancers	Brain Angular Gyrus	brain

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