Variant report

Variant	nsv610269
Chromosome Location	chr8:10416017-10461484
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:43)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:43 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:10444578..10445174-chr8:10671828..10672358,2	MCF-7	breast:
2	chr8:10421361..10423280-chr8:10424312..10426014,2	MCF-7	breast:
3	chr8:10447015..10448532-chr8:10696136..10697603,15	K562	blood:
4	chr8:10450511..10453354-chr8:10693058..10695560,2	K562	blood:
5	chr8:10446054..10448904-chr8:10503289..10505926,2	K562	blood:
6	chr8:10448565..10449854-chr8:10682554..10683407,5	K562	blood:
7	chr8:10447366..10448118-chr8:10670992..10671978,2	K562	blood:
8	chr8:10411613..10413470-chr8:10415012..10416901,2	K562	blood:
9	chr8:10425403..10427054-chr8:10442096..10444201,2	K562	blood:
10	chr8:10447717..10449945-chr8:10695392..10697388,2	MCF-7	breast:
11	chr8:10447773..10448295-chr8:10656037..10656649,2	MCF-7	breast:
12	chr8:10437716..10439367-chr8:10443929..10446771,2	K562	blood:
13	chr8:10447282..10448390-chr8:10682147..10683493,10	MCF-7	breast:
14	chr8:10437286..10440018-chr8:10695895..10698105,2	K562	blood:
15	chr8:10425403..10427054-chr8:10442096..10444201,2	K562	blood:
16	chr8:10444970..10445545-chr8:10682548..10683133,2	K562	blood:
17	chr8:10444778..10445703-chr8:10786032..10786596,2	MCF-7	breast:
18	chr8:10447404..10448576-chr8:10655982..10656998,11	MCF-7	breast:
19	chr8:10451891..10453978-chr8:10460350..10462448,2	K562	blood:
20	chr8:10443749..10446739-chr8:10451129..10452843,2	K562	blood:
21	chr8:10447726..10448226-chr8:10680360..10680981,2	K562	blood:
22	chr8:10444549..10445532-chr8:10658177..10659296,3	K562	blood:
23	chr8:10451891..10453978-chr8:10460350..10462448,2	K562	blood:
24	chr8:10445268..10448079-chr8:10682577..10684280,3	K562	blood:
25	chr8:10442713..10444669-chr8:10687154..10689359,2	K562	blood:
26	chr8:10405624..10406204-chr8:10444484..10445163,2	MCF-7	breast:
27	chr8:10443749..10446739-chr8:10451129..10452843,2	K562	blood:
28	chr8:10444505..10445571-chr8:10696284..10697359,4	K562	blood:
29	chr8:10447281..10448089-chr8:10696064..10697196,3	MCF-7	breast:
30	chr8:10437716..10439367-chr8:10443929..10446771,2	K562	blood:
31	chr8:10442817..10445019-chr8:10695179..10696964,2	MCF-7	breast:
32	chr8:10450308..10452176-chr8:10695894..10698184,2	MCF-7	breast:
33	chr8:10444773..10445405-chr8:10656129..10656744,2	MCF-7	breast:
34	chr8:10447720..10448261-chr8:10675847..10676686,2	K562	blood:
35	chr8:10447286..10448405-chr8:10682073..10684028,19	K562	blood:
36	chr8:10444435..10445487-chr8:10682600..10683390,5	MCF-7	breast:
37	chr8:10447388..10448227-chr8:10671479..10672292,5	MCF-7	breast:
38	chr8:10447691..10448293-chr8:10586014..10586821,3	MCF-7	breast:
39	chr8:10447312..10448291-chr8:10671241..10672318,3	MCF-7	breast:
40	chr8:10421700..10424416-chr8:10707916..10710717,2	K562	blood:
41	chr8:10421361..10423280-chr8:10424312..10426014,2	MCF-7	breast:
42	chr8:10444886..10445502-chr8:10682512..10683360,2	MCF-7	breast:
43	chr8:10447712..10448262-chr8:10591419..10591945,2	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP1L1-6	chr8:10442350-10442505	ucscGeneNc_uc010lru_1
2	lnc-PRSS55-2	chr8:10417991-10418798	NONHSAT125007
3	lnc-RP1L1-1	chr8:10436228-10436805	NONHSAT125009
4	lnc-RP1L1-1	chr8:10436958-10436997	NONHSAT125009
5	lnc-RP1L1-1	chr8:10438163-10438247	XLOC_007004
6	lnc-RP1L1-1	chr8:10436255-10436957	XLOC_007004

No data

Variant related genes	Relation type
ENSG00000253695	chromatin interactions
ENSG00000254093	chromatin interactions
ENSG00000258724	chromatin interactions
DCTN5	miRNA target sites
FAM102A	miRNA target sites

Extended variants
information (count: 3030 )
Associated
traits (count: 137 )

Variant overlapped rSNPs/rCNVs (count:3030 , 50 per page) page: 1 2 3 4 5 6 7 ... 61

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6601491	chr8:10416017-10416018	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs371301646	chr8:10416018-10416019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192658052	chr8:10416024-10416025	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4841378	chr8:10416053-10416054	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548438151	chr8:10416060-10416061	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs182972949	chr8:10416126-10416127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533841692	chr8:10416130-10416131	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553919867	chr8:10416152-10416153	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs570422436	chr8:10416176-10416177	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144558403	chr8:10416182-10416183	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147456461	chr8:10416299-10416300	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs367893408	chr8:10416316-10416317	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs575889920	chr8:10416322-10416323	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs531551787	chr8:10416333-10416334	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs77754451	chr8:10416350-10416351	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs187517307	chr8:10416403-10416404	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs574717318	chr8:10416404-10416405	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs540298139	chr8:10416449-10416450	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs192574724	chr8:10416454-10416455	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs148508864	chr8:10416477-10416478	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs184761905	chr8:10416484-10416485	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs562783204	chr8:10416563-10416564	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs531534532	chr8:10416580-10416581	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs548523980	chr8:10416585-10416586	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs568226662	chr8:10416593-10416594	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs527491293	chr8:10416613-10416614	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs574757153	chr8:10416614-10416615	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs570500206	chr8:10416678-10416679	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs543813437	chr8:10416762-10416763	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs376292276	chr8:10416768-10416769	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs575638825	chr8:10416788-10416789	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs539427056	chr8:10416791-10416792	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs142849896	chr8:10416820-10416821	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs114158864	chr8:10416841-10416842	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563778886	chr8:10416851-10416852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574653975	chr8:10416853-10416854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11782544	chr8:10416894-10416895	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs141029787	chr8:10416913-10416914	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538015473	chr8:10416917-10416918	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs115844900	chr8:10416918-10416919	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546153422	chr8:10416927-10416928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562709739	chr8:10416945-10416946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs116193974	chr8:10416990-10416991	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs117013424	chr8:10417014-10417015	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs143778300	chr8:10417029-10417030	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs528813876	chr8:10417030-10417031	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs527479276	chr8:10417058-10417059	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs547652434	chr8:10417069-10417070	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs564193146	chr8:10417079-10417080	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs548616561	chr8:10417134-10417135	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:137)

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
Osteosarcoma	21215367	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:446 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10404800-10422000	Weak transcription	Right Atrium	heart
2	chr8:10413200-10417800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr8:10413600-10418000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr8:10414000-10417000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:10414000-10417000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr8:10414200-10417000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr8:10414400-10416800	Enhancers	HMEC	breast
8	chr8:10415000-10417000	Enhancers	NHEK	skin
9	chr8:10415200-10423200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:10415800-10416600	Weak transcription	Fetal Thymus	thymus
11	chr8:10416000-10416200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr8:10416200-10416800	Bivalent Enhancer	Fetal Muscle Leg	muscle
13	chr8:10416600-10417200	Enhancers	Fetal Thymus	thymus
14	chr8:10416800-10417000	Enhancers	Placenta	Placenta
15	chr8:10417000-10417200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr8:10417000-10417800	Weak transcription	Placenta	Placenta
17	chr8:10417800-10418800	Enhancers	Placenta	Placenta
18	chr8:10417800-10420200	Enhancers	Placenta Amnion	Placenta Amnion
19	chr8:10418000-10418200	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr8:10418600-10419200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr8:10418600-10419200	Enhancers	Brain Hippocampus Middle	brain
22	chr8:10418800-10419000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr8:10418800-10419400	Bivalent Enhancer	Placenta	Placenta
24	chr8:10418800-10419800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr8:10419000-10419200	Enhancers	Brain Substantia Nigra	brain
26	chr8:10419000-10419800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr8:10419200-10419400	Enhancers	Brain Cingulate Gyrus	brain
28	chr8:10419600-10420600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
29	chr8:10419800-10420200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr8:10419800-10420400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr8:10419800-10422000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr8:10419800-10422200	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr8:10419800-10422400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:10420000-10420600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
35	chr8:10420000-10421800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
36	chr8:10420000-10422400	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr8:10420200-10420600	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr8:10420200-10422200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr8:10420200-10422400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr8:10420400-10421000	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr8:10420400-10422000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr8:10420400-10422400	Enhancers	H1 Cell Line	embryonic stem cell
43	chr8:10420400-10422400	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr8:10420400-10423000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr8:10420600-10421000	Enhancers	Placenta Amnion	Placenta Amnion
46	chr8:10420600-10421200	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr8:10420600-10421800	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr8:10420800-10421000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr8:10420800-10421000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr8:10420800-10421200	Enhancers	H9 Cell Line	embryonic stem cell

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