Variant report

Variant	nsv882224
Chromosome Location	chr5:79335975-79351735
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:10)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:79196588..79198348-chr5:79339313..79342153,2	K562	blood:
2	chr5:79341846..79342632-chr5:79379301..79379935,2	K562	blood:
3	chr5:79335840..79338759-chr5:79340815..79343092,2	K562	blood:
4	chr5:79348642..79351231-chr5:79351742..79353321,2	MCF-7	breast:
5	chr5:79332099..79334519-chr5:79339709..79341668,2	K562	blood:
6	chr5:79335840..79338759-chr5:79340815..79343092,2	K562	blood:
7	chr5:79333872..79336859-chr5:79337691..79339554,2	K562	blood:
8	chr5:79342559..79344595-chr5:79353378..79355370,2	MCF-7	breast:
9	chr5:79333872..79336859-chr5:79337691..79339554,2	K562	blood:
10	chr5:79350174..79351742-chr5:79371407..79373227,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SERINC5-1	chr5:79348197-79348724	ENSG00000249825.1

No data

Variant related genes	Relation type
ENSG00000249825	chromatin interactions

Extended variants
information (count: 531 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:531 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17881847	chr5:79335975-79335976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs572372132	chr5:79336016-79336017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs372241107	chr5:79336028-79336029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs369576000	chr5:79336033-79336034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541422494	chr5:79336036-79336037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs150043767	chr5:79336037-79336038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs372405988	chr5:79336057-79336058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs369984137	chr5:79336073-79336074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs200373343	chr5:79336091-79336092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs2229397	chr5:79336098-79336099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543977261	chr5:79336148-79336149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs140883597	chr5:79336197-79336198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs149738326	chr5:79336242-79336243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs60660392	chr5:79336271-79336272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs397811966	chr5:79336277-79336278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs200185391	chr5:79336278-79336279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs549229389	chr5:79336440-79336441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs559401009	chr5:79336453-79336454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs528419327	chr5:79336455-79336456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs145469693	chr5:79336474-79336475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs17878628	chr5:79336521-79336522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs570955660	chr5:79336539-79336540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs188336506	chr5:79336593-79336594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs550270320	chr5:79336623-79336624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs181846180	chr5:79336634-79336635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535687428	chr5:79336645-79336646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs186409631	chr5:79336691-79336692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs17878376	chr5:79336711-79336712	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs146195086	chr5:79336757-79336758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs17886994	chr5:79336762-79336763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs535389915	chr5:79336803-79336804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs547893187	chr5:79336826-79336827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs373186488	chr5:79336849-79336850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs578078924	chr5:79336888-79336889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs148833340	chr5:79336898-79336899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs563650845	chr5:79336941-79336942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs573744043	chr5:79336972-79336973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs542439982	chr5:79336976-79336977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs376357515	chr5:79336978-79336979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs76152295	chr5:79336985-79336986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs36080988	chr5:79336988-79336989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs145217986	chr5:79337013-79337014	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs551301745	chr5:79337020-79337021	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs564499660	chr5:79337026-79337027	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs530446265	chr5:79337087-79337088	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs137971521	chr5:79337097-79337098	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs13181102	chr5:79337157-79337158	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs140896743	chr5:79337180-79337181	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs567235856	chr5:79337211-79337212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs17882422	chr5:79337231-79337232	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
lymphocytic leukemia	21291569	CNVD
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79332000-79337200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr5:79332200-79337800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:79332600-79336800	Weak transcription	Brain Angular Gyrus	brain
4	chr5:79332800-79336800	Weak transcription	Brain Anterior Caudate	brain
5	chr5:79332800-79339200	Weak transcription	Left Ventricle	heart
6	chr5:79332800-79350200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr5:79333800-79336800	Weak transcription	Fetal Muscle Leg	muscle
8	chr5:79335200-79336400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr5:79335600-79337800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr5:79335600-79338200	Enhancers	Brain Substantia Nigra	brain
11	chr5:79335800-79338200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr5:79336400-79337200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:79336400-79337200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr5:79336600-79336800	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr5:79336800-79337000	Enhancers	Fetal Muscle Leg	muscle
16	chr5:79336800-79338000	Enhancers	Brain Anterior Caudate	brain
17	chr5:79336800-79338200	Enhancers	Brain Angular Gyrus	brain
18	chr5:79336800-79339200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr5:79337000-79337200	Genic enhancers	Fetal Muscle Leg	muscle
20	chr5:79337200-79337600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:79337200-79337600	Enhancers	HSMMtube	muscle
22	chr5:79337200-79337800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr5:79337200-79338400	Enhancers	Brain Hippocampus Middle	brain
24	chr5:79337200-79338400	Enhancers	Fetal Muscle Leg	muscle
25	chr5:79337200-79339000	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr5:79337600-79338600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:79337800-79338000	Flanking Active TSS	Brain Cingulate Gyrus	brain
28	chr5:79337800-79338200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:79337800-79338200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr5:79337800-79338200	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr5:79337800-79338400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr5:79338000-79338200	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr5:79338000-79338400	Flanking Active TSS	Brain Anterior Caudate	brain
34	chr5:79338000-79338600	Enhancers	Brain Cingulate Gyrus	brain
35	chr5:79338200-79339200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr5:79338200-79340600	Weak transcription	Right Ventricle	heart
37	chr5:79338200-79363600	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr5:79338200-79367600	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr5:79338400-79355200	Weak transcription	Brain Anterior Caudate	brain
40	chr5:79339200-79340000	Strong transcription	Left Ventricle	heart
41	chr5:79339200-79354600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr5:79340000-79363400	Weak transcription	Left Ventricle	heart
43	chr5:79344000-79344800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr5:79344200-79355200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr5:79345200-79364200	Weak transcription	Right Ventricle	heart
46	chr5:79345800-79346000	Bivalent/Poised TSS	Hela-S3	cervix
47	chr5:79347200-79351200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr5:79347800-79355600	Weak transcription	Brain Hippocampus Middle	brain
49	chr5:79348200-79366400	Weak transcription	Brain Substantia Nigra	brain
50	chr5:79350400-79350800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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