Variant report

Variant	nsv1025002
Chromosome Location	chr8:118970940-119069418
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:36)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:119010926..119015878-chr8:119016577..119020260,4	MCF-7	breast:
2	chr8:119016095..119018020-chr8:119023255..119025227,2	K562	blood:
3	chr8:118973542..118975877-chr8:118984534..118987052,2	K562	blood:
4	8:118988958-118993290..8:119208477-119211356	H1-hESC	embryonic stem cell:	embryo
5	chr8:119005711..119007230-chr8:119009334..119011314,2	MCF-7	breast:
6	chr8:119022743..119025680-chr8:119028143..119030470,3	MCF-7	breast:
7	chr8:119005711..119007230-chr8:119009334..119011314,2	MCF-7	breast:
8	chr8:119015841..119017947-chr8:119030340..119032884,2	MCF-7	breast:
9	chr8:118998954..119002808-chr8:119123412..119126433,4	MCF-7	breast:
10	chr8:118999516..119001908-chr8:119020694..119023645,2	MCF-7	breast:
11	chr8:119004216..119005864-chr8:119006227..119009143,2	MCF-7	breast:
12	chr8:119000472..119003306-chr8:119019524..119021773,2	MCF-7	breast:
13	chr8:119010926..119015878-chr8:119016577..119020260,4	MCF-7	breast:
14	chr8:119039290..119041869-chr8:119044899..119048314,3	MCF-7	breast:
15	chr8:119022743..119025680-chr8:119028143..119030470,3	MCF-7	breast:
16	chr8:118896198..118897114-chr8:119037614..119038165,2	MCF-7	breast:
17	chr8:118976562..118978924-chr8:118986229..118989159,2	MCF-7	breast:
18	chr16:84130002..84131861-chr8:119050742..119052450,2	MCF-7	breast:
19	chr8:118976562..118978924-chr8:118986229..118989159,2	MCF-7	breast:
20	chr8:119009696..119012547-chr8:119121829..119125594,3	MCF-7	breast:
21	chr8:119039290..119041869-chr8:119044899..119048314,3	MCF-7	breast:
22	chr8:119046491..119049181-chr8:119099094..119101026,2	MCF-7	breast:
23	chr8:119015841..119017947-chr8:119030340..119032884,2	MCF-7	breast:
24	chr8:119004216..119005864-chr8:119006227..119009143,2	MCF-7	breast:
25	chr8:118999516..119001908-chr8:119020694..119023645,2	MCF-7	breast:
26	chr8:119041694..119043358-chr8:119123015..119125384,2	MCF-7	breast:
27	chr8:118973542..118975877-chr8:118984534..118987052,2	K562	blood:
28	chr8:119056176..119058888-chr8:119122445..119124077,2	MCF-7	breast:
29	chr8:118968228..118970713-chr8:118979031..118981216,2	MCF-7	breast:
30	chr8:119016095..119018020-chr8:119023255..119025227,2	K562	blood:
31	chr8:118990513..118994843-chr8:118997898..119000699,3	MCF-7	breast:
32	chr8:118949865..118951415-chr8:118972031..118973609,2	MCF-7	breast:
33	chr8:118990513..118994843-chr8:118997898..119000699,3	MCF-7	breast:
34	chr8:118990517..118992059-chr8:119122818..119125739,2	MCF-7	breast:
35	chr8:119000472..119003306-chr8:119019524..119021773,2	MCF-7	breast:
36	chr8:119064917..119066588-chr8:119122468..119124143,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SAMD12-5	chr8:119047209-119047786	NONHSAT128403

No data

Variant related genes	Relation type
ENSG00000182197	chromatin interactions

Extended variants
information (count: 3736 )
Associated
traits (count: 145 )

Variant overlapped rSNPs/rCNVs (count:3736 , 50 per page) page: 1 2 3 4 5 6 7 ... 75

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537010553	chr8:118971011-118971012	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs183999716	chr8:118971097-118971098	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs73323948	chr8:118971114-118971115	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs188671965	chr8:118971223-118971224	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs181374025	chr8:118971277-118971278	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs17453427	chr8:118971340-118971341	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs139637939	chr8:118971354-118971355	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs563405542	chr8:118971409-118971410	Enhancers Genic enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530727795	chr8:118971428-118971429	Enhancers Genic enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186043093	chr8:118971429-118971430	Enhancers Genic enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142853696	chr8:118971436-118971437	Enhancers Genic enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs13263541	chr8:118971450-118971451	Enhancers Genic enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs561422932	chr8:118971468-118971469	Enhancers Genic enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547612469	chr8:118971539-118971540	Enhancers Genic enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566241811	chr8:118971540-118971541	Enhancers Genic enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11562821	chr8:118971568-118971569	Enhancers Genic enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs543853669	chr8:118971605-118971606	Enhancers Flanking Active TSS Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs13264137	chr8:118971650-118971651	Enhancers Flanking Active TSS Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs574323622	chr8:118971655-118971656	Enhancers Flanking Active TSS Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570214132	chr8:118971693-118971694	Enhancers Flanking Active TSS Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs17476044	chr8:118971711-118971712	Enhancers Flanking Active TSS Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs558581847	chr8:118971726-118971727	Enhancers Flanking Active TSS Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576954560	chr8:118971734-118971735	Enhancers Flanking Active TSS Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534691774	chr8:118971739-118971740	Enhancers Flanking Active TSS Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552819003	chr8:118971745-118971746	Enhancers Flanking Active TSS Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574493899	chr8:118971786-118971787	Enhancers Flanking Active TSS Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541624123	chr8:118971819-118971820	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs543226463	chr8:118971868-118971869	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs563506090	chr8:118971929-118971930	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs575180577	chr8:118971957-118971958	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs151099158	chr8:118971958-118971959	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs564924200	chr8:118971979-118971980	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs201098143	chr8:118971990-118971991	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs141033073	chr8:118972052-118972053	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs80318526	chr8:118972074-118972075	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559554676	chr8:118972076-118972077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190062196	chr8:118972095-118972096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182275272	chr8:118972108-118972109	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570308119	chr8:118972156-118972157	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541117569	chr8:118972165-118972166	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs59628055	chr8:118972179-118972180	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs543878529	chr8:118972190-118972191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs60822517	chr8:118972331-118972332	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs561428604	chr8:118972358-118972359	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376227587	chr8:118972365-118972366	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552946734	chr8:118972366-118972367	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113541042	chr8:118972406-118972407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535537968	chr8:118972427-118972428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs147959234	chr8:118972436-118972437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528681713	chr8:118972447-118972448	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:145)

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
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	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	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
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
Carcinoma ex pleomorphic adenoma	18828159	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
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	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
Chronic myeloid leukemia	21384125	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Breast cancer	20932292	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	17268525	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	19204574	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	22056952	CNVD
Langer-Giedion syndrome	16773131	CNVD
Lung cancer	16740712	CNVD
Mental retardation	16773131	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Langer-Giedion syndrome	22470819	CNVD
Cornelia de Lange syndrome	24599119	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
Oral squamous cell carcinoma	21853135	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Ovarian cancer	17440070	CNVD
Cancer	17440070	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Colorectal cancer	21645411	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:3792 , 50 per page) page: 1 2 3 4 5 6 7 ... 76

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118960600-118971200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:118966600-118971400	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr8:118966800-118971400	Weak transcription	Pancreas	Pancrea
4	chr8:118966800-118971800	Weak transcription	Right Ventricle	heart
5	chr8:118967000-118972200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:118967200-118971800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr8:118967400-118971800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr8:118967600-118971600	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr8:118968200-118971600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:118968800-118972800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr8:118969000-118971600	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr8:118969000-118971800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:118969000-118972200	Enhancers	H1 Cell Line	embryonic stem cell
14	chr8:118969000-118974600	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr8:118969200-118971400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:118969200-118972200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr8:118969200-118972800	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr8:118969400-118971400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr8:118969600-118971400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr8:118969800-118971200	Weak transcription	Esophagus	oesophagus
21	chr8:118969800-118971400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr8:118969800-118971400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr8:118969800-118971400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr8:118969800-118971400	Flanking Active TSS	NHDF-Ad	bronchial
25	chr8:118969800-118986800	Weak transcription	Lung	lung
26	chr8:118970000-118971000	Weak transcription	Fetal Intestine Large	intestine
27	chr8:118970000-118971200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr8:118970000-118971200	Weak transcription	Aorta	Aorta
29	chr8:118970000-118971200	Weak transcription	Psoas Muscle	Psoas
30	chr8:118970000-118971400	Weak transcription	Left Ventricle	heart
31	chr8:118970000-118971400	Weak transcription	Ovary	ovary
32	chr8:118970000-118971800	Enhancers	Fetal Intestine Small	intestine
33	chr8:118970000-118971800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr8:118970000-118972200	Enhancers	NHLF	lung
35	chr8:118970000-118973000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr8:118970000-118973000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr8:118970000-118973200	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr8:118970000-118975200	Weak transcription	Right Atrium	heart
39	chr8:118970200-118971200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr8:118970200-118971200	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr8:118970200-118971200	Weak transcription	Small Intestine	intestine
42	chr8:118970200-118971600	Enhancers	HepG2	liver
43	chr8:118970200-118971600	Enhancers	Osteobl	bone
44	chr8:118970200-118972200	Enhancers	NHEK	skin
45	chr8:118970200-118973000	Weak transcription	HMEC	breast
46	chr8:118970200-118981800	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr8:118970400-118971200	Weak transcription	Fetal Heart	heart
48	chr8:118970400-118971400	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr8:118970400-118971400	Weak transcription	NH-A	brain
50	chr8:118970400-118972200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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