Variant report

Variant	nsv1021511
Chromosome Location	chr8:115423794-115626389
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:115499449..115502165-chr8:115506498..115508368,2	K562	blood:
2	chr8:115561374..115563425-chr8:115568053..115569628,2	MCF-7	breast:
3	chr8:115499449..115502165-chr8:115506498..115508368,2	K562	blood:
4	chr8:115501581..115504455-chr8:115510401..115513186,2	MCF-7	breast:
5	chr8:115558949..115561292-chr8:115562561..115565176,2	MCF-7	breast:
6	chr8:115611607..115613247-chr8:115625084..115626919,2	K562	blood:
7	chr8:115598053..115599853-chr8:115604312..115606791,3	MCF-7	breast:
8	chr1:117900151..117901737-chr8:115598411..115599914,2	MCF-7	breast:
9	chr5:162988387..162989071-chr8:115522859..115523605,2	HCT-116	colon:
10	chr8:115561374..115563425-chr8:115568053..115569628,2	MCF-7	breast:
11	chr8:115541858..115544753-chr8:115552271..115555255,2	K562	blood:
12	chr8:115468981..115471423-chr8:115486430..115487982,2	MCF-7	breast:
13	chr8:115598053..115599853-chr8:115604312..115606791,3	MCF-7	breast:
14	chr8:115558949..115561292-chr8:115562561..115565176,2	MCF-7	breast:
15	chr8:115501581..115504455-chr8:115510401..115513186,2	MCF-7	breast:
16	chr17:57969212..57972136-chr8:115525975..115527526,2	MCF-7	breast:
17	chr8:115468981..115471423-chr8:115486430..115487982,2	MCF-7	breast:
18	chr8:115466661..115467320-chr8:115801108..115801704,2	MCF-7	breast:
19	chr8:115611607..115613247-chr8:115625084..115626919,2	K562	blood:
20	chr8:115541858..115544753-chr8:115552271..115555255,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000108443	chromatin interactions
ENSG00000108423	chromatin interactions

Extended variants
information (count: 2581 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:2581 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528931867	chr8:115431610-115431611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs556566300	chr8:115431631-115431632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs77880536	chr8:115431642-115431643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs144247914	chr8:115431661-115431662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568878139	chr8:115431805-115431806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs176652	chr8:115431806-115431807	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs114810860	chr8:115431825-115431826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs367898753	chr8:115431831-115431832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185279127	chr8:115431846-115431847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs12053616	chr8:115431898-115431899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs371843837	chr8:115431961-115431962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs10109578	chr8:115431962-115431963	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs571036448	chr8:115431992-115431993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs555351792	chr8:115431999-115432000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572288782	chr8:115432046-115432047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs143839241	chr8:115432066-115432067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544109593	chr8:115432107-115432108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs556091035	chr8:115432114-115432115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs189691671	chr8:115432118-115432119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs574724684	chr8:115432145-115432146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs180886665	chr8:115432169-115432170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs527857305	chr8:115432170-115432171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs554100209	chr8:115435266-115435267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs556947679	chr8:115435273-115435274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs575681390	chr8:115435314-115435315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs543497807	chr8:115435348-115435349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs113748976	chr8:115435360-115435361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs532314146	chr8:115435433-115435434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs183979674	chr8:115435464-115435465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs559514508	chr8:115435492-115435493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs529976100	chr8:115435551-115435552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576787350	chr8:115435565-115435566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs73702581	chr8:115435586-115435587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs370026535	chr8:115435607-115435608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs373048030	chr8:115435638-115435639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs141760903	chr8:115435650-115435651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs552617831	chr8:115435679-115435680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs150590940	chr8:115435707-115435708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs568573011	chr8:115435756-115435757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs535132979	chr8:115435763-115435764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs74703422	chr8:115435782-115435783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs188759820	chr8:115435787-115435788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs558901365	chr8:115435844-115435845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs535744870	chr8:115435846-115435847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs10097313	chr8:115435854-115435855	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs376798107	chr8:115435863-115435864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs575617681	chr8:115435914-115435915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs543081822	chr8:115435929-115435930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs116894399	chr8:115437431-115437432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs550728737	chr8:115437453-115437454	Enhancers	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:226 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:115431600-115432200	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr8:115435200-115436000	Enhancers	Hela-S3	cervix
3	chr8:115437400-115437800	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr8:115437400-115438000	Enhancers	Dnd41	blood
5	chr8:115446800-115447600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr8:115447600-115448000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr8:115447600-115449000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:115448000-115449000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr8:115448000-115461800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr8:115448400-115448800	Active TSS	GM12878-XiMat	blood
11	chr8:115448800-115450600	Weak transcription	GM12878-XiMat	blood
12	chr8:115450600-115451000	Enhancers	GM12878-XiMat	blood
13	chr8:115454600-115455200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr8:115457000-115458200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr8:115458200-115458800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
16	chr8:115458800-115461800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr8:115461400-115461800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:115461400-115462000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr8:115461600-115462400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr8:115461800-115462200	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr8:115461800-115462600	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr8:115461800-115462600	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr8:115461800-115462600	Enhancers	Brain Germinal Matrix	brain
24	chr8:115461800-115462800	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr8:115461800-115463000	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr8:115461800-115463000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr8:115461800-115464000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:115462000-115465000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr8:115462200-115462400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr8:115462200-115462600	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr8:115462600-115462800	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr8:115462600-115465000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr8:115462600-115465000	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr8:115462800-115464800	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr8:115462800-115465200	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr8:115463000-115464600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr8:115463000-115466000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr8:115464000-115464400	Enhancers	Hela-S3	cervix
39	chr8:115464000-115465800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr8:115464600-115466800	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr8:115464800-115466800	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr8:115465000-115465200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr8:115465000-115465400	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr8:115465000-115466400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr8:115465000-115466600	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr8:115465200-115465800	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr8:115465200-115466600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr8:115465200-115466600	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr8:115465400-115465600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr8:115465400-115466800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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