Variant report

Variant	nsv890351
Chromosome Location	chr8:10439902-10482372
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:46)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

No data

(count:46 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:10444505..10445571-chr8:10696284..10697359,4	K562	blood:
2	chr8:10466383..10469729-chr8:10471205..10473307,3	K562	blood:
3	chr8:10451891..10453978-chr8:10460350..10462448,2	K562	blood:
4	chr8:10437716..10439367-chr8:10443929..10446771,2	K562	blood:
5	chr8:10450511..10453354-chr8:10693058..10695560,2	K562	blood:
6	chr8:10447712..10448262-chr8:10591419..10591945,2	MCF-7	breast:
7	chr8:10444578..10445174-chr8:10671828..10672358,2	MCF-7	breast:
8	chr8:10447773..10448295-chr8:10656037..10656649,2	MCF-7	breast:
9	chr8:10447286..10448405-chr8:10682073..10684028,19	K562	blood:
10	chr8:10447282..10448390-chr8:10682147..10683493,10	MCF-7	breast:
11	chr8:10447388..10448227-chr8:10671479..10672292,5	MCF-7	breast:
12	chr8:10447015..10448532-chr8:10696136..10697603,15	K562	blood:
13	chr8:10466383..10469729-chr8:10471205..10473307,3	K562	blood:
14	chr8:10444549..10445532-chr8:10658177..10659296,3	K562	blood:
15	chr8:10450308..10452176-chr8:10695894..10698184,2	MCF-7	breast:
16	chr8:10444886..10445502-chr8:10682512..10683360,2	MCF-7	breast:
17	chr8:10425403..10427054-chr8:10442096..10444201,2	K562	blood:
18	chr8:10447404..10448576-chr8:10655982..10656998,11	MCF-7	breast:
19	chr8:10443749..10446739-chr8:10451129..10452843,2	K562	blood:
20	chr8:10444435..10445487-chr8:10682600..10683390,5	MCF-7	breast:
21	chr8:10447691..10448293-chr8:10586014..10586821,3	MCF-7	breast:
22	chr8:10471165..10472668-chr8:10474766..10476740,2	K562	blood:
23	chr8:10405624..10406204-chr8:10444484..10445163,2	MCF-7	breast:
24	chr8:10461544..10463468-chr8:10674781..10677553,2	K562	blood:
25	chr8:10447366..10448118-chr8:10670992..10671978,2	K562	blood:
26	chr8:10443749..10446739-chr8:10451129..10452843,2	K562	blood:
27	chr8:10442817..10445019-chr8:10695179..10696964,2	MCF-7	breast:
28	chr8:10447281..10448089-chr8:10696064..10697196,3	MCF-7	breast:
29	chr17:57915711..57917705-chr8:10466490..10468325,2	MCF-7	breast:
30	chr8:10471165..10472668-chr8:10474766..10476740,2	K562	blood:
31	chr8:10447720..10448261-chr8:10675847..10676686,2	K562	blood:
32	chr8:10464134..10466751-chr8:10479070..10481412,2	K562	blood:
33	chr8:10447312..10448291-chr8:10671241..10672318,3	MCF-7	breast:
34	chr8:10444778..10445703-chr8:10786032..10786596,2	MCF-7	breast:
35	chr8:10444970..10445545-chr8:10682548..10683133,2	K562	blood:
36	chr8:10442713..10444669-chr8:10687154..10689359,2	K562	blood:
37	chr8:10446054..10448904-chr8:10503289..10505926,2	K562	blood:
38	chr8:10448565..10449854-chr8:10682554..10683407,5	K562	blood:
39	chr8:10444773..10445405-chr8:10656129..10656744,2	MCF-7	breast:
40	chr8:10445268..10448079-chr8:10682577..10684280,3	K562	blood:
41	chr8:10447726..10448226-chr8:10680360..10680981,2	K562	blood:
42	chr8:10451891..10453978-chr8:10460350..10462448,2	K562	blood:
43	chr8:10464134..10466751-chr8:10479070..10481412,2	K562	blood:
44	chr8:10481194..10482903-chr8:10484662..10486783,2	K562	blood:
45	chr8:10447717..10449945-chr8:10695392..10697388,2	MCF-7	breast:
46	chr8:10437286..10440018-chr8:10695895..10698105,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP1L1-6	chr8:10442350-10442505	ucscGeneNc_uc010lru_1

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	RP1L1	hsa-miR-335-5p	chr8:10464033-10464056

Variant related genes	Relation type
ENSG00000258724	chromatin interactions
ENSG00000254093	chromatin interactions
ENSG00000253695	chromatin interactions

Extended variants
information (count: 3215 )
Associated
traits (count: 136 )

Variant overlapped rSNPs/rCNVs (count:3215 , 50 per page) page: 1 2 3 4 5 6 7 ... 65

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7828690	chr8:10439902-10439903	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs144943795	chr8:10439914-10439915	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs567770400	chr8:10439915-10439916	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs533650666	chr8:10439943-10439944	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs535963881	chr8:10439944-10439945	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs542577599	chr8:10439946-10439947	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs376450258	chr8:10439969-10439970	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs200663352	chr8:10439978-10439979	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs553345896	chr8:10439979-10439980	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs370660478	chr8:10439981-10439982	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs563031953	chr8:10439991-10439992	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs570161542	chr8:10440004-10440005	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs538927025	chr8:10440011-10440012	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs555970524	chr8:10440020-10440021	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs188088153	chr8:10440029-10440030	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs544742367	chr8:10440032-10440033	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs554871710	chr8:10440035-10440036	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs574973300	chr8:10440046-10440047	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs540777223	chr8:10440062-10440063	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs551993766	chr8:10440076-10440077	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs115704163	chr8:10440077-10440078	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs138813415	chr8:10440160-10440161	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs117800506	chr8:10440168-10440169	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs75511836	chr8:10440181-10440182	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs531511872	chr8:10440186-10440187	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs191564215	chr8:10440205-10440206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527842024	chr8:10440208-10440209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548131476	chr8:10440213-10440214	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527384990	chr8:10440283-10440284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs34610931	chr8:10440286-10440287	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570099239	chr8:10440299-10440300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35626194	chr8:10440361-10440362	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs555888092	chr8:10440371-10440372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370669670	chr8:10440372-10440373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538194691	chr8:10440379-10440380	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375444091	chr8:10440382-10440383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549781896	chr8:10440391-10440392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534270268	chr8:10440431-10440432	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554272817	chr8:10440463-10440464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569777791	chr8:10440471-10440472	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546132849	chr8:10440509-10440510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562749800	chr8:10440512-10440513	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183669243	chr8:10440588-10440589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187990515	chr8:10440593-10440594	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561526563	chr8:10440654-10440655	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527519259	chr8:10440659-10440660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142033232	chr8:10440698-10440699	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563790693	chr8:10440704-10440705	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542714131	chr8:10440721-10440722	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549738357	chr8:10440726-10440727	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:136)

Disease	PMID	Source
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
Prostate cancer	16573809	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Developmental disorder	20461109	CNVD
abnormal development	18461090	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioblastoma multiforme	21138945	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Gastric cancer	21811585	CNVD
Colorectal cancer	16774939	CNVD

Chromatin state (count:292 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10437000-10440400	Enhancers	Liver	Liver
2	chr8:10437800-10441400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:10439000-10440000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:10439000-10453000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:10439400-10440400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr8:10439400-10443000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr8:10439600-10440000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:10439600-10440200	Enhancers	NHEK	skin
9	chr8:10439800-10440000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:10439800-10440000	Enhancers	HUVEC	blood vessel
11	chr8:10439800-10440200	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr8:10439800-10440400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr8:10439800-10445400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:10440000-10440200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr8:10440000-10440400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr8:10440000-10442800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr8:10440200-10445000	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr8:10440400-10442000	Weak transcription	HUVEC	blood vessel
19	chr8:10440400-10442800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr8:10440400-10444800	Weak transcription	Liver	Liver
21	chr8:10441000-10441200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:10441000-10442800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
23	chr8:10441400-10443000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr8:10441600-10442800	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr8:10441600-10443400	Enhancers	Fetal Muscle Leg	muscle
26	chr8:10441800-10442600	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr8:10441800-10443400	Enhancers	Placenta	Placenta
28	chr8:10442000-10442400	Enhancers	Psoas Muscle	Psoas
29	chr8:10442000-10443400	Enhancers	HUVEC	blood vessel
30	chr8:10442200-10442800	Enhancers	Brain Germinal Matrix	brain
31	chr8:10442400-10443000	Bivalent Enhancer	Adipose Nuclei	Adipose
32	chr8:10442600-10444000	Enhancers	Placenta Amnion	Placenta Amnion
33	chr8:10442800-10443200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
34	chr8:10442800-10443200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr8:10442800-10443400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr8:10442800-10443400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr8:10443000-10443200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr8:10443000-10443200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr8:10443000-10443400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
40	chr8:10443000-10443400	Enhancers	Lung	lung
41	chr8:10443200-10443400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr8:10443200-10443600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
43	chr8:10443400-10445000	Weak transcription	HUVEC	blood vessel
44	chr8:10443400-10447400	Weak transcription	Fetal Muscle Leg	muscle
45	chr8:10444800-10445000	Enhancers	Colon Smooth Muscle	Colon
46	chr8:10444800-10445200	Enhancers	Adipose Nuclei	Adipose
47	chr8:10444800-10445200	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr8:10444800-10445400	Enhancers	Primary B cells from peripheral blood	blood
49	chr8:10444800-10445400	Enhancers	Liver	Liver
50	chr8:10444800-10445400	Enhancers	Pancreas	Pancrea

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