Variant report

Variant	nsv612229
Chromosome Location	chr8:130213203-130252229
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:9)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr8:130241712..130245181-chr8:130247946..130250887,3	K562	blood:
2	chr8:130203532..130206316-chr8:130213311..130214939,2	K562	blood:
3	chr8:130241310..130242932-chr8:130248585..130251478,2	K562	blood:
4	chr8:130242424..130245268-chr8:130255791..130258029,2	K562	blood:
5	chr8:130241310..130242932-chr8:130248585..130251478,2	K562	blood:
6	chr8:130183706..130186415-chr8:130213861..130215962,2	K562	blood:
7	chr8:130236372..130238772-chr8:130238852..130240954,2	K562	blood:
8	chr8:130236372..130238772-chr8:130238852..130240954,2	K562	blood:
9	chr8:130241712..130245181-chr8:130247946..130250887,3	K562	blood:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GSDMC-2	chr8:130235467-130235615	ENSG00000250400
2	lnc-GSDMC-2	chr8:130235467-130235615	NR_033916
3	lnc-GSDMC-2	chr8:130228728-130229652	ENSG00000250400
4	lnc-GSDMC-2	chr8:130228713-130229652	NR_033916
5	lnc-GSDMC-2	chr8:130235467-130235615	ENSG00000250400.3
6	lnc-GSDMC-2	chr8:130228713-130229652	ENSG00000250400.3
7	lnc-GSDMC-2	chr8:130228711-130229652	XLOC_007220

No data

Extended variants
information (count: 1580 )
Associated
traits (count: 151 )

Variant overlapped rSNPs/rCNVs (count:1580 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6998274	chr8:130213203-130213204	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs567799204	chr8:130213230-130213231	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535219996	chr8:130213348-130213349	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548913522	chr8:130213357-130213358	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554333978	chr8:130213368-130213369	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190192038	chr8:130213372-130213373	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs540080545	chr8:130213384-130213385	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs143226099	chr8:130213391-130213392	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576473927	chr8:130213401-130213402	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs543825150	chr8:130213403-130213404	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562091047	chr8:130213431-130213432	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs574174596	chr8:130213436-130213437	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs376988451	chr8:130213542-130213543	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs368876783	chr8:130213552-130213553	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181894697	chr8:130213605-130213606	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs114852951	chr8:130213610-130213611	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs552417618	chr8:130213647-130213648	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs564055427	chr8:130213745-130213746	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs113279136	chr8:130213754-130213755	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569053977	chr8:130213778-130213779	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs549363348	chr8:130213843-130213844	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs113609892	chr8:130213862-130213863	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs373049204	chr8:130213889-130213890	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs535138660	chr8:130213897-130213898	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs141311132	chr8:130213964-130213965	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs530178289	chr8:130214002-130214003	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs542205260	chr8:130214026-130214027	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs566237641	chr8:130214035-130214036	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs117609620	chr8:130214073-130214074	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs558368379	chr8:130214171-130214172	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs150798993	chr8:130214174-130214175	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576790170	chr8:130214234-130214235	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs528373703	chr8:130214251-130214252	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs537785212	chr8:130214293-130214294	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs137981830	chr8:130214318-130214319	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs142554646	chr8:130214380-130214381	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs146014439	chr8:130214384-130214385	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs374384599	chr8:130214385-130214386	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs73388098	chr8:130214405-130214406	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs116973330	chr8:130214433-130214434	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs149702632	chr8:130214442-130214443	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs186361338	chr8:130214456-130214457	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs191167433	chr8:130214468-130214469	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs561302751	chr8:130214488-130214489	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs56361426	chr8:130214513-130214514	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs547436800	chr8:130214591-130214592	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs565625941	chr8:130214596-130214597	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs376800711	chr8:130214614-130214615	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551998859	chr8:130214718-130214719	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs570299987	chr8:130214738-130214739	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:151)

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

Chromatin state (count:158 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130205400-130214600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:130208200-130241600	Weak transcription	Thymus	Thymus
3	chr8:130209400-130213600	Weak transcription	Fetal Muscle Leg	muscle
4	chr8:130209600-130214600	Weak transcription	Fetal Stomach	stomach
5	chr8:130209800-130214600	Weak transcription	Ovary	ovary
6	chr8:130210000-130215000	Genic enhancers	Dnd41	blood
7	chr8:130210000-130216600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr8:130211400-130215400	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr8:130211800-130214400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr8:130213200-130213800	Strong transcription	Fetal Thymus	thymus
11	chr8:130213400-130214400	Weak transcription	NHDF-Ad	bronchial
12	chr8:130213400-130215000	Enhancers	K562	blood
13	chr8:130213600-130215600	Enhancers	Fetal Muscle Leg	muscle
14	chr8:130213800-130214000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr8:130213800-130214200	Genic enhancers	Fetal Thymus	thymus
16	chr8:130213800-130215600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr8:130213800-130215600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr8:130214000-130215400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr8:130214000-130216800	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr8:130214200-130214400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr8:130214200-130215200	Enhancers	Fetal Thymus	thymus
22	chr8:130214200-130215200	Enhancers	HUVEC	blood vessel
23	chr8:130214200-130216800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr8:130214400-130214800	Enhancers	Adipose Nuclei	Adipose
25	chr8:130214400-130215200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr8:130214400-130215400	Enhancers	Fetal Lung	lung
27	chr8:130214400-130215400	Enhancers	NH-A	brain
28	chr8:130214400-130215400	Enhancers	NHDF-Ad	bronchial
29	chr8:130214400-130215600	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr8:130214400-130215600	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr8:130214400-130215600	Enhancers	Osteobl	bone
32	chr8:130214400-130216800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr8:130214600-130214800	Enhancers	Fetal Heart	heart
34	chr8:130214600-130215000	Enhancers	Colon Smooth Muscle	Colon
35	chr8:130214600-130215000	Enhancers	Ovary	ovary
36	chr8:130214600-130215200	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr8:130214600-130215200	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr8:130214600-130215200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr8:130214600-130215200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr8:130214600-130215200	Enhancers	Rectal Smooth Muscle	rectum
41	chr8:130214600-130215400	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr8:130214600-130215400	Enhancers	Muscle Satellite Cultured Cells	--
43	chr8:130214600-130215400	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr8:130214600-130215400	Enhancers	HSMMtube	muscle
45	chr8:130214600-130215400	Enhancers	NHEK	skin
46	chr8:130214600-130215600	Enhancers	HMEC	breast
47	chr8:130214600-130216400	Enhancers	Fetal Stomach	stomach
48	chr8:130214800-130215000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr8:130214800-130215200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr8:130214800-130216400	Weak transcription	Fetal Heart	heart

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