Variant report

Variant	nsv891320
Chromosome Location	chr8:112931908-113054458
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:59972667..59973359-chr8:112973092..112973952,2	MCF-7	breast:
2	chr8:112946373..112947269-chr8:113476964..113477520,2	MCF-7	breast:
3	chr8:112946524..112947507-chr8:113386902..113387446,2	MCF-7	breast:
4	chr8:112976625..112977471-chr8:114449676..114450374,2	MCF-7	breast:
5	chr8:112976187..112977006-chr8:113476921..113477813,7	MCF-7	breast:
6	chr8:112947101..112947938-chr8:113477362..113477935,2	MCF-7	breast:
7	chr8:112946347..112947268-chr8:113386770..113387527,2	MCF-7	breast:
8	chr8:112976151..112977081-chr8:113386595..113387462,4	MCF-7	breast:
9	chr8:112980405..112982694-chr8:112982938..112985443,2	MCF-7	breast:
10	chr8:112946353..112947027-chr8:112976279..112976810,2	MCF-7	breast:
11	chr8:112976391..112977811-chr8:113408288..113409205,6	MCF-7	breast:
12	chr8:112952038..112954490-chr8:112955048..112956799,2	K562	blood:
13	chr8:112976579..112977386-chr8:113471922..113472710,2	MCF-7	breast:
14	chr8:112976314..112977253-chr8:113408305..113409151,3	MCF-7	breast:
15	chr8:113036903..113039112-chr8:113145309..113148146,2	K562	blood:
16	chr8:112952038..112954490-chr8:112955048..112956799,2	K562	blood:
17	chr8:112870353..112871084-chr8:112943233..112944215,2	MCF-7	breast:
18	chr8:112946353..112947027-chr8:112976279..112976810,2	MCF-7	breast:
19	chr8:112980405..112982694-chr8:112982938..112985443,2	MCF-7	breast:

No data

Extended variants
information (count: 1220 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:1220 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13248419	chr8:112931908-112931909	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs565026155	chr8:112931909-112931910	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs574145622	chr8:112934019-112934020	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs75311865	chr8:112934060-112934061	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs560087429	chr8:112934134-112934135	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs562542425	chr8:112943648-112943649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs576414135	chr8:112943672-112943673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs369777165	chr8:112943694-112943695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs373729679	chr8:112943722-112943723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542145567	chr8:112943766-112943767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562372774	chr8:112943828-112943829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs76547714	chr8:112943848-112943849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547966109	chr8:112943901-112943902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs564709504	chr8:112943908-112943909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs2221769	chr8:112943917-112943918	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs549929130	chr8:112943950-112943951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs569534156	chr8:112943967-112943968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs73326254	chr8:112945632-112945633	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs371225450	chr8:112945667-112945668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs373860455	chr8:112945869-112945870	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs530719581	chr8:112945870-112945871	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs546555090	chr8:112945903-112945904	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs73326255	chr8:112945950-112945951	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs192715352	chr8:112963609-112963610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs569559279	chr8:112963637-112963638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs7821359	chr8:112963675-112963676	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs374566771	chr8:112963677-112963678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs34524227	chr8:112963732-112963733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs117047768	chr8:112963763-112963764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs539602641	chr8:112963804-112963805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs184134933	chr8:112963823-112963824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs533908482	chr8:112963824-112963825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs558813266	chr8:112963847-112963848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs577591430	chr8:112963848-112963849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs540182503	chr8:112963870-112963871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556785636	chr8:112963871-112963872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs188419693	chr8:112963877-112963878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs34508553	chr8:112963883-112963884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs545091899	chr8:112963884-112963885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs200060727	chr8:112963886-112963887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs4644290	chr8:112963887-112963888	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs201154103	chr8:112963897-112963898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs386413694	chr8:112963898-112963899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs56239211	chr8:112963899-112963900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs4031385	chr8:112963900-112963901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs572119285	chr8:112963907-112963908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs368263396	chr8:112963950-112963951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs530489134	chr8:112963961-112963962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs201773076	chr8:112963962-112963963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs144900406	chr8:112963977-112963978	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
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
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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:112931600-112932000	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:112934000-112934200	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:112943600-112944000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:112943600-112944000	Enhancers	Placenta	Placenta
5	chr8:112945600-112946000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:112945800-112946000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:112963600-112964400	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr8:112964200-112964600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr8:112964200-112964600	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr8:112964400-112968800	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr8:112964600-112969000	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr8:112965400-112966800	Enhancers	Brain Germinal Matrix	brain
13	chr8:112966200-112966600	Enhancers	Fetal Brain Female	brain
14	chr8:112968800-112969400	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr8:112969000-112969400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:112969000-112969400	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr8:112975200-112975400	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr8:112975400-112976000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr8:112976000-112978800	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr8:112976400-112977400	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr8:112976800-112977200	Enhancers	H1 Cell Line	embryonic stem cell
22	chr8:112976800-112977200	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr8:112977000-112977200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr8:112977000-112977400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr8:112977000-112977600	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr8:112977000-112978200	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr8:112977000-112978200	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr8:112977000-112978600	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr8:112977200-112977600	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr8:112977600-112978200	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr8:112977800-112978000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr8:112986400-112987200	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr8:112986600-112987200	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr8:112987000-112987400	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr8:112992800-112993200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr8:112993200-112993600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr8:112993600-112994200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr8:113003800-113006400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr8:113004000-113006400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr8:113005200-113005600	Enhancers	Primary hematopoietic stem cells	blood
41	chr8:113006400-113011600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr8:113006400-113011800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr8:113007800-113009400	Enhancers	Fetal Lung	lung
44	chr8:113011200-113012000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr8:113011600-113013200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr8:113011800-113013000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr8:113013000-113013800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr8:113013800-113014000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr8:113021200-113021400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr8:113021400-113021600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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