Variant report

Variant	nsv971692
Chromosome Location	chr8:107709250-107709750
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564358200	chr8:107709250-107709251	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576255013	chr8:107709255-107709256	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543376280	chr8:107709260-107709261	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561878492	chr8:107709312-107709313	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs142155819	chr8:107709396-107709397	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566281744	chr8:107709408-107709409	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs368109851	chr8:107709426-107709427	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs1676418	chr8:107709458-107709459	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs559066178	chr8:107709479-107709480	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs146252824	chr8:107709502-107709503	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs117926248	chr8:107709530-107709531	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569564784	chr8:107709537-107709538	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs62514962	chr8:107709546-107709547	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs550210457	chr8:107709551-107709552	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567807181	chr8:107709613-107709614	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs181433034	chr8:107709620-107709621	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs568598944	chr8:107709628-107709629	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs535722269	chr8:107709674-107709675	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs554287179	chr8:107709679-107709680	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs73699993	chr8:107709714-107709715	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs539955428	chr8:107709719-107709720	Weak transcription Strong transcription ZNF genes & repeats	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
Thoracic aortic aneurysm	21092924	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
small cell lung cancer	20016488	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
Prostate cancer	22341455	CNVD
Colorectal cancer	21645411	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107672200-107718800	Weak transcription	Psoas Muscle	Psoas
2	chr8:107672400-107718600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr8:107677600-107709400	Weak transcription	Pancreas	Pancrea
4	chr8:107677600-107718800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr8:107679200-107738200	Weak transcription	Right Ventricle	heart
6	chr8:107681200-107730200	Weak transcription	Small Intestine	intestine
7	chr8:107683800-107718800	Weak transcription	Hela-S3	cervix
8	chr8:107686600-107711800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr8:107688000-107713000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:107688600-107718600	Weak transcription	Stomach Mucosa	stomach
11	chr8:107690200-107730600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr8:107691600-107718600	Weak transcription	K562	blood
13	chr8:107692000-107738400	Weak transcription	Colon Smooth Muscle	Colon
14	chr8:107692800-107725800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr8:107693000-107709800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr8:107694600-107719000	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr8:107694600-107738000	Weak transcription	Fetal Heart	heart
18	chr8:107695000-107725800	Weak transcription	NHLF	lung
19	chr8:107695800-107718600	Weak transcription	NHEK	skin
20	chr8:107696000-107718800	Weak transcription	A549	lung
21	chr8:107696000-107737200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr8:107696200-107718800	Weak transcription	Brain Cingulate Gyrus	brain
23	chr8:107697200-107709400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr8:107697800-107718400	Weak transcription	HUVEC	blood vessel
25	chr8:107697800-107718800	Weak transcription	Osteobl	bone
26	chr8:107697800-107719000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr8:107697800-107723800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr8:107698000-107709400	Weak transcription	Left Ventricle	heart
29	chr8:107698000-107718600	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr8:107698000-107718600	Weak transcription	NH-A	brain
31	chr8:107698000-107719000	Weak transcription	Fetal Kidney	kidney
32	chr8:107698000-107723000	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr8:107698200-107709400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr8:107698200-107709400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr8:107698200-107709800	Weak transcription	Thymus	Thymus
36	chr8:107698200-107718600	Weak transcription	HepG2	liver
37	chr8:107698200-107718800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr8:107698200-107718800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr8:107698200-107718800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr8:107698200-107731000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr8:107698400-107718600	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr8:107698400-107718600	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr8:107698400-107718800	Weak transcription	HSMM	muscle
44	chr8:107699400-107718800	Weak transcription	NHDF-Ad	bronchial
45	chr8:107699600-107709800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr8:107701400-107717400	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr8:107702600-107710400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr8:107703000-107712000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr8:107705400-107718600	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr8:107705400-107718600	Weak transcription	HMEC	breast

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