Variant report

Variant	nsv517445
Chromosome Location	chr8:129859924-129881299
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:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:129861118..129862963-chr8:129865839..129868302,2	MCF-7	breast:
2	chr8:129871293..129871865-chr8:130547381..130548343,2	MCF-7	breast:
3	chr8:128813410..128816212-chr8:129870107..129873143,3	MCF-7	breast:
4	chr8:128746642..128751324-chr8:129868978..129871457,4	MCF-7	breast:
5	chr8:129868858..129872488-chr8:129878808..129881369,3	K562	blood:
6	chr8:129865860..129869579-chr8:129877876..129880689,4	K562	blood:
7	chr8:129868858..129872488-chr8:129878808..129881369,3	K562	blood:
8	chr8:129855829..129857601-chr8:129861654..129864302,2	MCF-7	breast:
9	chr8:129860905..129863737-chr8:129866151..129867802,2	MCF-7	breast:
10	chr8:129872569..129876540-chr8:129878616..129881184,3	K562	blood:
11	chr8:129865860..129869579-chr8:129877876..129880689,4	K562	blood:
12	chr8:129665721..129666389-chr8:129871085..129871874,4	MCF-7	breast:
13	chr8:129880648..129882498-chr8:129885129..129887830,2	K562	blood:
14	chr8:129878873..129881112-chr8:129881741..129884417,2	K562	blood:
15	chr8:129858879..129861538-chr8:129862120..129864287,2	MCF-7	breast:
16	chr8:129849900..129852286-chr8:129859025..129860723,2	K562	blood:
17	chr4:116843676..116845196-chr8:129860321..129863005,2	MCF-7	breast:
18	chr8:129858313..129861214-chr8:130574284..130576982,2	K562	blood:
19	chr8:129872569..129876540-chr8:129878616..129881184,3	K562	blood:
20	chr8:129861118..129862963-chr8:129865839..129868302,2	MCF-7	breast:
21	chr8:129858879..129861538-chr8:129862120..129864287,2	MCF-7	breast:
22	chr8:129665813..129666407-chr8:129871214..129871886,2	MCF-7	breast:
23	chr8:129860905..129863737-chr8:129866151..129867802,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000136997	chromatin interactions

Extended variants
information (count: 793 )
Associated
traits (count: 154 )

Variant overlapped rSNPs/rCNVs (count:793 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13277797	chr8:129859924-129859925	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs536874016	chr8:129859969-129859970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs192048362	chr8:129859995-129859996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs542333289	chr8:129860007-129860008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs16903648	chr8:129860008-129860009	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs62528568	chr8:129860080-129860081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs539108010	chr8:129860180-129860181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs550998386	chr8:129860204-129860205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs529464176	chr8:129860246-129860247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs114563209	chr8:129860247-129860248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575708589	chr8:129860258-129860259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs373125878	chr8:129860259-129860260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543349305	chr8:129860271-129860272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs144691421	chr8:129860306-129860307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531157203	chr8:129860311-129860312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs540443055	chr8:129860358-129860359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs16903650	chr8:129860416-129860417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs183814256	chr8:129860431-129860432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545075759	chr8:129860432-129860433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs562990773	chr8:129860463-129860464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs142698606	chr8:129860481-129860482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs548874179	chr8:129860488-129860489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs567187551	chr8:129860502-129860503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs576091651	chr8:129860620-129860621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs10113225	chr8:129860622-129860623	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs546513743	chr8:129860623-129860624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs72726590	chr8:129860667-129860668	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs543206429	chr8:129860721-129860722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs117129150	chr8:129860748-129860749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs114447544	chr8:129860750-129860751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs569286545	chr8:129860817-129860818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374295161	chr8:129860818-129860819	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536617193	chr8:129860824-129860825	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555324815	chr8:129860858-129860859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573485330	chr8:129860867-129860868	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540904476	chr8:129860899-129860900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs150970805	chr8:129860900-129860901	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189178657	chr8:129860947-129860948	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544780032	chr8:129860996-129860997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561295912	chr8:129861002-129861003	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs144142898	chr8:129861047-129861048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs73383372	chr8:129861064-129861065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs142163975	chr8:129861116-129861117	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542244592	chr8:129861128-129861129	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530292377	chr8:129861140-129861141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539023386	chr8:129861142-129861143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557436429	chr8:129861153-129861154	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560533167	chr8:129861188-129861189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576236942	chr8:129861216-129861217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550141042	chr8:129861223-129861224	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
Gastric cancer	18160780	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
Ovarian cancer	22355333	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21611746	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:369 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:129843800-129863600	Weak transcription	Dnd41	blood
2	chr8:129854800-129860000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:129854800-129860800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:129857400-129863400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr8:129858000-129862200	Weak transcription	NHEK	skin
6	chr8:129858200-129862200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr8:129858200-129862400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:129858200-129862400	Weak transcription	NHLF	lung
9	chr8:129858400-129860000	Enhancers	Brain Germinal Matrix	brain
10	chr8:129858400-129862400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr8:129858400-129862400	Weak transcription	HMEC	breast
12	chr8:129858600-129860000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr8:129858600-129860800	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr8:129858600-129862200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr8:129858600-129868800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:129858800-129860000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr8:129858800-129862400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr8:129859000-129862400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr8:129859000-129862600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr8:129859000-129863400	Weak transcription	Osteobl	bone
21	chr8:129859400-129862000	Weak transcription	NHDF-Ad	bronchial
22	chr8:129859400-129862400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr8:129859400-129862400	Weak transcription	HSMM	muscle
24	chr8:129859600-129861800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr8:129859600-129862000	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr8:129860000-129860200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr8:129860000-129867000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr8:129860200-129862000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr8:129860800-129861200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:129861200-129867200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:129861800-129864600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr8:129862000-129862400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr8:129862000-129864400	Enhancers	Muscle Satellite Cultured Cells	--
34	chr8:129862000-129864400	Enhancers	NHDF-Ad	bronchial
35	chr8:129862200-129862800	Enhancers	NHEK	skin
36	chr8:129862200-129864000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr8:129862200-129864400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr8:129862400-129862800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr8:129862400-129862800	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr8:129862400-129862800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr8:129862400-129862800	Enhancers	HMEC	breast
42	chr8:129862400-129862800	Enhancers	HUVEC	blood vessel
43	chr8:129862400-129863000	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr8:129862400-129863200	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr8:129862400-129863200	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr8:129862400-129863200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr8:129862400-129863400	Enhancers	NHLF	lung
48	chr8:129862400-129864200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr8:129862400-129864200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr8:129862400-129864400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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