Variant report

Variant	nsv1023204
Chromosome Location	chr8:110169573-110303085
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:77)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:77 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr8:110284180..110285865-chr8:110286825..110289616,2	K562	blood:
2	chr8:110266910..110269823-chr8:110274098..110276440,2	MCF-7	breast:
3	chr8:110238617..110240882-chr8:110264919..110266571,2	MCF-7	breast:
4	chr8:110242575..110246884-chr8:110247305..110250446,3	MCF-7	breast:
5	chr8:110195761..110197327-chr8:110197475..110199148,2	MCF-7	breast:
6	chr8:110300725..110303179-chr8:110304720..110306354,2	MCF-7	breast:
7	chr8:110282798..110284490-chr8:110290384..110293883,3	K562	blood:
8	chr8:110251256..110254212-chr8:110254485..110256380,2	K562	blood:
9	chr8:110187579..110189456-chr8:110191000..110193987,2	K562	blood:
10	chr8:110302918..110306043-chr8:110308192..110310489,3	MCF-7	breast:
11	chr8:110178793..110181398-chr8:110184663..110187163,2	MCF-7	breast:
12	chr8:110178793..110181398-chr8:110184663..110187163,2	MCF-7	breast:
13	chr8:110273357..110276985-chr8:110278828..110281749,3	K562	blood:
14	chr8:110293214..110295684-chr8:110300331..110302859,2	MCF-7	breast:
15	chr8:109931267..109933961-chr8:110239914..110241556,2	MCF-7	breast:
16	chr8:110279580..110281414-chr8:110552685..110555457,2	MCF-7	breast:
17	chr8:110237564..110238071-chr8:110338220..110338727,2	MCF-7	breast:
18	chr8:110265183..110267675-chr8:110271618..110273789,2	K562	blood:
19	chr8:110249700..110252178-chr8:110258243..110259912,2	K562	blood:
20	chr8:110251271..110254204-chr8:110279241..110281441,2	K562	blood:
21	chr8:110242575..110246884-chr8:110247305..110250446,3	MCF-7	breast:
22	chr8:110238617..110240882-chr8:110264919..110266571,2	MCF-7	breast:
23	chr8:110237132..110238315-chr8:110294080..110295100,5	MCF-7	breast:
24	chr8:110293728..110295786-chr8:110296881..110298730,2	MCF-7	breast:
25	chr8:110274391..110276446-chr8:110278687..110281148,2	MCF-7	breast:
26	chr8:110266910..110269823-chr8:110274098..110276440,2	MCF-7	breast:
27	chr8:110252631..110254624-chr8:110265466..110267437,3	MCF-7	breast:
28	chr8:110234924..110237282-chr8:110242100..110245071,2	K562	blood:
29	chr8:110051446..110054408-chr8:110240885..110242830,2	MCF-7	breast:
30	chr8:110298680..110300639-chr8:110303623..110306620,2	K562	blood:
31	chr8:110245513..110246299-chr8:110328099..110328844,2	MCF-7	breast:
32	chr8:110236599..110237927-chr8:110328052..110329074,4	MCF-7	breast:
33	chr8:110284682..110286826-chr8:110289156..110291459,2	MCF-7	breast:
34	chr8:110282798..110284490-chr8:110290384..110293883,3	K562	blood:
35	chr8:110252631..110254624-chr8:110265466..110267437,3	MCF-7	breast:
36	chr8:110195761..110197327-chr8:110197475..110199148,2	MCF-7	breast:
37	chr8:110267160..110271575-chr8:110275719..110280785,4	MCF-7	breast:
38	chr8:110144829..110147238-chr8:110238883..110241671,2	MCF-7	breast:
39	chr8:110251256..110254212-chr8:110254485..110256380,2	K562	blood:
40	chr8:110187579..110189456-chr8:110191000..110193987,2	K562	blood:
41	chr8:110271725..110274616-chr8:110342573..110345047,2	K562	blood:
42	chr8:110284682..110286826-chr8:110289156..110291459,2	MCF-7	breast:
43	chr8:110187579..110190023-chr8:110192487..110194344,2	K562	blood:
44	chr8:110170035..110172030-chr8:110179252..110181141,2	K562	blood:
45	chr8:110249700..110252178-chr8:110258243..110259912,2	K562	blood:
46	chr8:110170035..110172030-chr8:110179252..110181141,2	K562	blood:
47	chr8:110130537..110131463-chr8:110294292..110294801,2	MCF-7	breast:
48	chr8:110179346..110181865-chr8:110183752..110185336,2	MCF-7	breast:
49	chr8:110284939..110287374-chr8:110293583..110295372,2	MCF-7	breast:
50	chr8:110252748..110254805-chr8:110344261..110345885,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRHR-1	chr8:110188878-110189374	NONHSAT128286
2	lnc-TRHR-1	chr8:110172720-110173061	NONHSAT128286
3	lnc-NUDCD1-1	chr8:110243904-110244239	NONHSAT128287

No data

Variant related genes	Relation type
ENSG00000147654	chromatin interactions
ENSG00000120533	chromatin interactions
ENSG00000167614	chromatin interactions
ENSG00000253796	chromatin interactions
ENSG00000120526	chromatin interactions

Extended variants
information (count: 4428 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:4428 , 50 per page) page: 1 2 3 4 5 6 7 ... 89

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541247540	chr8:110170234-110170235	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs553150672	chr8:110170249-110170250	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs188932809	chr8:110170276-110170277	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs533257401	chr8:110170301-110170302	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs143199569	chr8:110170313-110170314	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs373031248	chr8:110170321-110170322	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs528890747	chr8:110170333-110170334	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs549028644	chr8:110170350-110170351	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs112263793	chr8:110170382-110170383	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs546292587	chr8:110170390-110170391	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs566404757	chr8:110172767-110172768	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs35515564	chr8:110172813-110172814	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs538578268	chr8:110172862-110172863	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs558119601	chr8:110172863-110172864	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs190351572	chr8:110172882-110172883	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs10955508	chr8:110172884-110172885	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs554668739	chr8:110172961-110172962	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs550531604	chr8:110173012-110173013	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs574910638	chr8:110173018-110173019	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs540808133	chr8:110173022-110173023	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs139762485	chr8:110173023-110173024	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs548965008	chr8:110175464-110175465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149480373	chr8:110175495-110175496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs35953338	chr8:110175505-110175506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs67756591	chr8:110175508-110175509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs35917301	chr8:110175509-110175510	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
27	rs11321965	chr8:110175514-110175515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574365173	chr8:110175515-110175516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs193282866	chr8:110175547-110175548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547400565	chr8:110175572-110175573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570501888	chr8:110175620-110175621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs13282488	chr8:110175703-110175704	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs551163567	chr8:110175735-110175736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548605265	chr8:110175809-110175810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs143095389	chr8:110175821-110175822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185647687	chr8:110175965-110175966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372093075	chr8:110175982-110175983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148190602	chr8:110176000-110176001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs76431557	chr8:110176015-110176016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs4645539	chr8:110176079-110176080	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs4529440	chr8:110176094-110176095	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs557729031	chr8:110176312-110176313	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs189328904	chr8:110176351-110176352	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs73700814	chr8:110176358-110176359	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs200256195	chr8:110176359-110176360	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs562240129	chr8:110176398-110176399	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs557188387	chr8:110176453-110176454	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs10089544	chr8:110176567-110176568	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs542021670	chr8:110176654-110176655	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561895966	chr8:110176679-110176680	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:108)

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
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	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
Cancer	20164919	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
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
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Multiple myeloma	16461302	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Breast cancer	21364760	CNVD
Gastric cancer	22539939	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Chronic myeloid leukemia	21384125	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Renal cell carcinoma	21215367	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:1532 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110170200-110170400	ZNF genes & repeats	Lung	lung
2	chr8:110175400-110181400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:110175800-110176200	Weak transcription	Lung	lung
4	chr8:110176200-110176600	Enhancers	Gastric	stomach
5	chr8:110176200-110176600	ZNF genes & repeats	Lung	lung
6	chr8:110176200-110176800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr8:110176400-110176800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:110186000-110192200	Weak transcription	HSMMtube	muscle
9	chr8:110187200-110187400	ZNF genes & repeats	Lung	lung
10	chr8:110187400-110188200	Weak transcription	Lung	lung
11	chr8:110190400-110191400	Enhancers	GM12878-XiMat	blood
12	chr8:110191400-110192000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:110191400-110192000	Flanking Active TSS	GM12878-XiMat	blood
14	chr8:110191400-110237400	Weak transcription	Left Ventricle	heart
15	chr8:110191600-110191800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr8:110191600-110192000	Enhancers	H1 Cell Line	embryonic stem cell
17	chr8:110191600-110192200	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr8:110191600-110192200	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr8:110191600-110193000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr8:110191800-110195600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr8:110192000-110192200	Enhancers	GM12878-XiMat	blood
22	chr8:110192000-110193000	Enhancers	Muscle Satellite Cultured Cells	--
23	chr8:110192000-110193000	Enhancers	Osteobl	bone
24	chr8:110192000-110193200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr8:110192200-110193000	Enhancers	HSMM	muscle
26	chr8:110192200-110193000	Enhancers	HSMMtube	muscle
27	chr8:110192200-110202400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr8:110192400-110192600	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr8:110192400-110193000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr8:110192400-110193000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr8:110192400-110202000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr8:110192600-110197600	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr8:110192800-110193200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr8:110193000-110200000	Weak transcription	HSMM	muscle
35	chr8:110193400-110194800	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr8:110194200-110195600	Weak transcription	Aorta	Aorta
37	chr8:110195600-110195800	ZNF genes & repeats	Aorta	Aorta
38	chr8:110195600-110196000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr8:110196000-110197200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr8:110197200-110197400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr8:110197600-110198400	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr8:110198400-110199200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr8:110200400-110201000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr8:110200400-110201400	Enhancers	HepG2	liver
45	chr8:110200600-110204600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr8:110201000-110201600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr8:110201600-110202000	Enhancers	K562	blood
48	chr8:110201600-110202200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr8:110201600-110202200	Enhancers	Fetal Lung	lung
50	chr8:110201600-110203000	Enhancers	HUES6 Cell Line	embryonic stem cell

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