Variant report

Variant	nsv891375
Chromosome Location	chr8:115395451-115526520
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:115466661..115467320-chr8:115801108..115801704,2	MCF-7	breast:
2	chr8:115501581..115504455-chr8:115510401..115513186,2	MCF-7	breast:
3	chr8:115499449..115502165-chr8:115506498..115508368,2	K562	blood:
4	chr8:115392553..115395092-chr8:115402142..115404171,2	MCF-7	breast:
5	chr8:115468981..115471423-chr8:115486430..115487982,2	MCF-7	breast:
6	chr17:57969212..57972136-chr8:115525975..115527526,2	MCF-7	breast:
7	chr8:115501581..115504455-chr8:115510401..115513186,2	MCF-7	breast:
8	chr8:115468981..115471423-chr8:115486430..115487982,2	MCF-7	breast:
9	chr5:162988387..162989071-chr8:115522859..115523605,2	HCT-116	colon:
10	chr8:115499449..115502165-chr8:115506498..115508368,2	K562	blood:
11	chr8:115360876..115362417-chr8:115396298..115399107,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000108443	chromatin interactions
ENSG00000108423	chromatin interactions

Extended variants
information (count: 1463 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:1463 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs290623	chr8:115395451-115395452	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs558138102	chr8:115395466-115395467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs570177733	chr8:115395473-115395474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs34598388	chr8:115395477-115395478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs145055069	chr8:115395560-115395561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs374703543	chr8:115395633-115395634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552679706	chr8:115395660-115395661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188331656	chr8:115395689-115395690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376319693	chr8:115395706-115395707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs73346535	chr8:115395719-115395720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs532537181	chr8:115395736-115395737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546180374	chr8:115395760-115395761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs193026402	chr8:115395806-115395807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs118103720	chr8:115395821-115395822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183431297	chr8:115395844-115395845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs554994823	chr8:115395862-115395863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188140349	chr8:115395918-115395919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529483549	chr8:115395924-115395925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs550897579	chr8:115396019-115396020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569493629	chr8:115396042-115396043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs533471190	chr8:115396054-115396055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs551727078	chr8:115396068-115396069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs570093360	chr8:115396081-115396082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs140757910	chr8:115396116-115396117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs114923972	chr8:115396132-115396133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs568109923	chr8:115396163-115396164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs543923485	chr8:115397400-115397401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs563788833	chr8:115397412-115397413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs555492806	chr8:115397476-115397477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs138153414	chr8:115397481-115397482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs76134031	chr8:115397568-115397569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs542121286	chr8:115399016-115399017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs549165944	chr8:115399064-115399065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs567409157	chr8:115399069-115399070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs531651593	chr8:115399078-115399079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs549738703	chr8:115399081-115399082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs571288344	chr8:115399121-115399122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs538684314	chr8:115399124-115399125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs553843303	chr8:115399157-115399158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs188615499	chr8:115399190-115399191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs181361426	chr8:115399200-115399201	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs555212695	chr8:115399206-115399207	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs536403696	chr8:115399251-115399252	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs290619	chr8:115399252-115399253	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs147530175	chr8:115399257-115399258	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs544070411	chr8:115399284-115399285	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs140225807	chr8:115399289-115399290	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs145675521	chr8:115399311-115399312	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs144876493	chr8:115399319-115399320	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs140017363	chr8:115399321-115399322	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Melanoma	18172304	CNVD
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
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Sezary syndrome	18413736	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
Breast cancer	21364760	CNVD
Neuroticism	17667963	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Schizophrenia	20967226	CNVD
Schizophrenia	23813976	CNVD
Cancer	20164919	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:148 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:115395200-115396000	Enhancers	H9 Cell Line	embryonic stem cell
2	chr8:115395600-115396000	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr8:115395800-115396200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:115397400-115397600	Enhancers	Fetal Lung	lung
5	chr8:115399000-115399200	Enhancers	Hela-S3	cervix
6	chr8:115399200-115399600	Flanking Active TSS	Hela-S3	cervix
7	chr8:115399600-115399800	Weak transcription	Fetal Lung	lung
8	chr8:115399600-115400600	Active TSS	Hela-S3	cervix
9	chr8:115399800-115400800	Enhancers	Fetal Lung	lung
10	chr8:115400600-115400800	Flanking Active TSS	Hela-S3	cervix
11	chr8:115400800-115402200	Enhancers	Hela-S3	cervix
12	chr8:115431600-115432200	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr8:115435200-115436000	Enhancers	Hela-S3	cervix
14	chr8:115437400-115437800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr8:115437400-115438000	Enhancers	Dnd41	blood
16	chr8:115446800-115447600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr8:115447600-115448000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr8:115447600-115449000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr8:115448000-115449000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr8:115448000-115461800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr8:115448400-115448800	Active TSS	GM12878-XiMat	blood
22	chr8:115448800-115450600	Weak transcription	GM12878-XiMat	blood
23	chr8:115450600-115451000	Enhancers	GM12878-XiMat	blood
24	chr8:115454600-115455200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr8:115457000-115458200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr8:115458200-115458800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
27	chr8:115458800-115461800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr8:115461400-115461800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr8:115461400-115462000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr8:115461600-115462400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr8:115461800-115462200	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr8:115461800-115462600	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr8:115461800-115462600	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr8:115461800-115462600	Enhancers	Brain Germinal Matrix	brain
35	chr8:115461800-115462800	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr8:115461800-115463000	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr8:115461800-115463000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr8:115461800-115464000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr8:115462000-115465000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr8:115462200-115462400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
41	chr8:115462200-115462600	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr8:115462600-115462800	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr8:115462600-115465000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr8:115462600-115465000	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr8:115462800-115464800	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr8:115462800-115465200	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr8:115463000-115464600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr8:115463000-115466000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr8:115464000-115464400	Enhancers	Hela-S3	cervix
50	chr8:115464000-115465800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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