Variant report

Variant	nsv970617
Chromosome Location	chr7:152517945-152544433
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:151479725..151480239-chr7:152520505..152521105,2	K562	blood:

Extended variants
information (count: 1066 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:1066 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71537943	chr7:152517949-152517950	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs559079174	chr7:152517961-152517962	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs111509177	chr7:152517982-152517983	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs3095093	chr7:152517987-152517988	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs71531692	chr7:152518020-152518021	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529835353	chr7:152518021-152518022	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373851520	chr7:152518027-152518028	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10249394	chr7:152518063-152518064	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs548887340	chr7:152518131-152518132	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs150787136	chr7:152518160-152518161	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs180684636	chr7:152518164-152518165	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139047956	chr7:152518220-152518221	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185513514	chr7:152518246-152518247	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538827282	chr7:152518271-152518272	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191048744	chr7:152518284-152518285	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371307035	chr7:152518292-152518293	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565883399	chr7:152518294-152518295	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375886946	chr7:152518319-152518320	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs367812602	chr7:152518327-152518328	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528373167	chr7:152518345-152518346	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547811294	chr7:152518394-152518395	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565921050	chr7:152518415-152518416	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144867432	chr7:152518417-152518418	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543824518	chr7:152518454-152518455	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs71537941	chr7:152518478-152518479	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576888851	chr7:152518482-152518483	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541132637	chr7:152518508-152518509	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547516699	chr7:152518557-152518558	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376567031	chr7:152518559-152518560	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559494427	chr7:152518608-152518609	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs186899215	chr7:152518618-152518619	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs542143427	chr7:152518652-152518653	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs75069706	chr7:152518653-152518654	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs78905075	chr7:152518661-152518662	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs117512863	chr7:152518662-152518663	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs2531061	chr7:152518705-152518706	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs564038435	chr7:152518708-152518709	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs148969460	chr7:152518726-152518727	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs113379129	chr7:152518734-152518735	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs537210464	chr7:152518758-152518759	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs2260616	chr7:152518767-152518768	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs191786804	chr7:152518779-152518780	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs2260615	chr7:152518781-152518782	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs78325072	chr7:152518809-152518810	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs75675641	chr7:152518810-152518811	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs77389879	chr7:152518811-152518812	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs74600287	chr7:152518812-152518813	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs183549225	chr7:152518818-152518819	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs565844368	chr7:152518820-152518821	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577510867	chr7:152518842-152518843	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	16864856	CNVD
Autism	20808228	CNVD
Ovarian cancer	21720365	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Liver carcinoma	19366792	CNVD
Long-qt syndrome	17576883	CNVD
Bradycardia syndrome	17576883	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Autism	22102821	CNVD
Myelofibrosis	22110671	CNVD
Nasopharyngeal cancer	20548289	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:243 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:152482800-152518600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:152488800-152545600	Weak transcription	Primary T cells from cord blood	blood
3	chr7:152489800-152568800	Weak transcription	Hela-S3	cervix
4	chr7:152491600-152520200	Weak transcription	Primary B cells from peripheral blood	blood
5	chr7:152493000-152518600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr7:152493200-152518600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr7:152497600-152549200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr7:152498400-152528200	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr7:152498400-152556000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:152498400-152559200	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr7:152498600-152520000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:152498600-152526800	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr7:152498800-152518600	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr7:152498800-152518800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr7:152498800-152520000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr7:152498800-152520600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr7:152498800-152539600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr7:152499200-152546800	Weak transcription	Brain Hippocampus Middle	brain
19	chr7:152499800-152520200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr7:152500600-152520000	Weak transcription	Fetal Intestine Large	intestine
21	chr7:152500600-152556000	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr7:152501400-152550400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:152501600-152518600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr7:152502000-152539200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr7:152504000-152555000	Weak transcription	K562	blood
26	chr7:152508400-152549200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr7:152509200-152551200	Weak transcription	Fetal Muscle Leg	muscle
28	chr7:152509600-152520600	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr7:152510200-152534000	Weak transcription	Fetal Thymus	thymus
30	chr7:152510200-152569800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr7:152511000-152518800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr7:152511200-152528000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr7:152511600-152522800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr7:152511600-152526600	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr7:152513000-152520400	Weak transcription	Fetal Lung	lung
36	chr7:152513200-152519400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr7:152513200-152520600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr7:152513400-152549200	Weak transcription	Placenta	Placenta
39	chr7:152513400-152550400	Weak transcription	Esophagus	oesophagus
40	chr7:152513600-152546000	Weak transcription	Spleen	Spleen
41	chr7:152514000-152520400	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr7:152514400-152549400	Weak transcription	Duodenum Mucosa	Duodenum
43	chr7:152514400-152554800	Weak transcription	Osteobl	bone
44	chr7:152514800-152555000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr7:152515600-152518800	Strong transcription	Left Ventricle	heart
46	chr7:152515600-152521800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr7:152515800-152518000	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr7:152516000-152518400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr7:152516000-152519800	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr7:152516200-152518000	Strong transcription	Skeletal Muscle Female	skeletal muscle

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