Variant report

Variant	nsv1026243
Chromosome Location	chr8:62039073-62101123
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:5)
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	chr8:62044721..62047676-chr8:62048656..62051008,2	MCF-7	breast:
2	chr8:62039342..62040905-chr8:62046486..62048457,2	MCF-7	breast:
3	chr8:62036289..62038012-chr8:62049623..62051509,2	MCF-7	breast:
4	chr8:61567081..61569634-chr8:62050277..62052303,2	K562	blood:
5	chr8:61564289..61566085-chr8:62064724..62067710,2	K562	blood:
6	chr8:62034256..62037126-chr8:62040343..62042185,2	K562	blood:
7	chr8:62051294..62051870-chr8:62381197..62381952,2	MCF-7	breast:
8	chr8:61589463..61592430-chr8:62051338..62054107,2	K562	blood:
9	chr8:62050920..62052213-chr8:62152653..62153352,3	MCF-7	breast:
10	chr8:62051677..62052206-chr8:62381213..62382143,4	K562	blood:
11	chr8:62077514..62080405-chr8:62083367..62084892,2	K562	blood:
12	chr22:39566536..39567354-chr8:62099186..62100100,2	MCF-7	breast:
13	chr8:62077514..62080405-chr8:62083367..62084892,2	K562	blood:
14	chr8:62039342..62040905-chr8:62046486..62048457,2	MCF-7	breast:
15	chr8:62042411..62044649-chr8:62046602..62048940,2	K562	blood:
16	chr8:62042411..62044649-chr8:62046602..62048940,2	K562	blood:
17	chr8:62077514..62079078-chr8:62082702..62084867,2	K562	blood:
18	chr8:62077514..62079078-chr8:62082702..62084867,2	K562	blood:
19	chr8:62034871..62036799-chr8:62043503..62045064,2	K562	blood:
20	chr8:62044721..62047676-chr8:62048656..62051008,2	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ASPH-8	chr8:62042686-62042861	l_3611_chr8:62041271-62042861_whiteBloodCell
2	lnc-ASPH-8	chr8:62041386-62041570	l_3611_chr8:62041271-62042861_whiteBloodCell
3	lnc-ASPH-8	chr8:62041272-62041385	l_3611_chr8:62041271-62042861_whiteBloodCell
4	lnc-CHD7-5	chr8:62041283-62041594	l_3610_chr8:62040284-62041594_adrenal
5	lnc-CHD7-5	chr8:62040285-62040474	l_3610_chr8:62040284-62041594_adrenal

No data

Variant related genes	Relation type
ENSG00000171316	chromatin interactions

Extended variants
information (count: 2048 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:2048 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3864668	chr8:62039073-62039074	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs147818429	chr8:62039126-62039127	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs183712645	chr8:62039159-62039160	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs550549474	chr8:62039186-62039187	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs188770166	chr8:62039209-62039210	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs572969915	chr8:62039233-62039234	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs567542716	chr8:62039239-62039240	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs192596359	chr8:62039257-62039258	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs115074295	chr8:62039264-62039265	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs141474563	chr8:62039322-62039323	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs562519029	chr8:62039354-62039355	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs534398497	chr8:62039367-62039368	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs532823576	chr8:62039385-62039386	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs545066544	chr8:62039387-62039388	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs368241311	chr8:62039401-62039402	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs373515323	chr8:62039414-62039415	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs527868120	chr8:62039436-62039437	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs546596987	chr8:62039437-62039438	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs147014004	chr8:62039448-62039449	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs35241517	chr8:62039450-62039451	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs145062273	chr8:62039492-62039493	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs549875021	chr8:62039496-62039497	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs566446706	chr8:62039538-62039539	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs538653280	chr8:62039585-62039586	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs377056867	chr8:62039607-62039608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs571603353	chr8:62039619-62039620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs538687052	chr8:62039640-62039641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs112736992	chr8:62039641-62039642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs143004740	chr8:62039642-62039643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs539910072	chr8:62039652-62039653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs556352222	chr8:62039721-62039722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs533934777	chr8:62039771-62039772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs371501885	chr8:62039772-62039773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs7830831	chr8:62039787-62039788	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs148230427	chr8:62039804-62039805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs544501774	chr8:62039805-62039806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs371676453	chr8:62039810-62039811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs141630201	chr8:62039866-62039867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs60069444	chr8:62039916-62039917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs185332671	chr8:62039927-62039928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs544717420	chr8:62039966-62039967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs560150206	chr8:62039977-62039978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs571809010	chr8:62040025-62040026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs145822903	chr8:62040066-62040067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs561159511	chr8:62040071-62040072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs531823798	chr8:62040085-62040086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs574387535	chr8:62040155-62040156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs550429357	chr8:62040223-62040224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs367844307	chr8:62040245-62040246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs565488835	chr8:62040270-62040271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
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
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	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
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	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
Salivary gland tumor	18059337	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
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Sezary syndrome	18413736	CNVD

Chromatin state (count:502 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62034400-62051400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:62037000-62039600	Flanking Active TSS	GM12878-XiMat	blood
3	chr8:62037200-62039200	Enhancers	Primary B cells from peripheral blood	blood
4	chr8:62038000-62039800	Enhancers	Primary T cells from cord blood	blood
5	chr8:62039000-62044000	Weak transcription	Primary B cells from cord blood	blood
6	chr8:62039000-62051400	Weak transcription	Pancreas	Pancrea
7	chr8:62039200-62043800	Weak transcription	Primary B cells from peripheral blood	blood
8	chr8:62039600-62041400	Enhancers	GM12878-XiMat	blood
9	chr8:62041400-62043600	Weak transcription	GM12878-XiMat	blood
10	chr8:62043600-62044400	Enhancers	GM12878-XiMat	blood
11	chr8:62043800-62045000	Enhancers	Primary B cells from peripheral blood	blood
12	chr8:62044000-62045000	Enhancers	Primary B cells from cord blood	blood
13	chr8:62044400-62044600	Genic enhancers	GM12878-XiMat	blood
14	chr8:62044400-62044800	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr8:62044400-62044800	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr8:62044400-62044800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr8:62044600-62045000	Enhancers	GM12878-XiMat	blood
18	chr8:62045000-62045200	Weak transcription	GM12878-XiMat	blood
19	chr8:62045200-62045600	Strong transcription	GM12878-XiMat	blood
20	chr8:62045600-62051400	Weak transcription	GM12878-XiMat	blood
21	chr8:62050600-62051400	Enhancers	Fetal Intestine Large	intestine
22	chr8:62050800-62051400	Enhancers	K562	blood
23	chr8:62051000-62051400	Enhancers	Fetal Brain Male	brain
24	chr8:62051000-62052600	Enhancers	Fetal Heart	heart
25	chr8:62051200-62051400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
26	chr8:62051200-62051400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr8:62051200-62051400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr8:62051200-62051400	Enhancers	Primary hematopoietic stem cells	blood
29	chr8:62051200-62051400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr8:62051200-62051400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr8:62051200-62051400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr8:62051200-62051400	Enhancers	Brain Angular Gyrus	brain
33	chr8:62051200-62051400	Active TSS	Brain Anterior Caudate	brain
34	chr8:62051200-62051400	Enhancers	Brain Germinal Matrix	brain
35	chr8:62051200-62051400	Enhancers	Duodenum Mucosa	Duodenum
36	chr8:62051200-62051400	Enhancers	Fetal Brain Female	brain
37	chr8:62051200-62051600	Enhancers	Primary B cells from peripheral blood	blood
38	chr8:62051200-62051600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
39	chr8:62051200-62051600	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr8:62051200-62051600	Bivalent Enhancer	Fetal Intestine Small	intestine
41	chr8:62051400-62051600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
42	chr8:62051400-62051600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr8:62051400-62051600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
44	chr8:62051400-62051600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
45	chr8:62051400-62051600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr8:62051400-62051600	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr8:62051400-62051600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr8:62051400-62051600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr8:62051400-62051600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr8:62051400-62051600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin

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