Variant report

Variant	nsv970910
Chromosome Location	chr7:99232661-99234268
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:99215464..99217026-chr7:99233198..99234980,2	K562	blood:
2	chr7:99233858..99235993-chr7:99264652..99267032,2	K562	blood:
3	chr7:99223092..99225778-chr7:99231932..99235796,4	K562	blood:

Extended variants
information (count: 81 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563728338	chr7:99232684-99232685	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs182679198	chr7:99232715-99232716	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs369338991	chr7:99232746-99232747	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs570447535	chr7:99232776-99232777	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs200752109	chr7:99232777-99232778	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs79324427	chr7:99232788-99232789	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs371713362	chr7:99232841-99232842	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs541788091	chr7:99232846-99232847	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs563184085	chr7:99232878-99232879	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs17131918	chr7:99232886-99232887	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs34884054	chr7:99232924-99232925	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs545588256	chr7:99232935-99232936	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs188202577	chr7:99232956-99232957	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs534593712	chr7:99232990-99232991	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs529561506	chr7:99233048-99233049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs116018393	chr7:99233071-99233072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs548703051	chr7:99233082-99233083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs192084989	chr7:99233099-99233100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183796955	chr7:99233118-99233119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs530890829	chr7:99233197-99233198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs565380343	chr7:99233199-99233200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs189201012	chr7:99233200-99233201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs549115759	chr7:99233244-99233245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558307263	chr7:99233248-99233249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570628008	chr7:99233271-99233272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs140565350	chr7:99233310-99233311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376266089	chr7:99233313-99233314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs137980345	chr7:99233343-99233344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs35464446	chr7:99233345-99233346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553232633	chr7:99233392-99233393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574673891	chr7:99233397-99233398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535423780	chr7:99233399-99233400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556874945	chr7:99233413-99233414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575133950	chr7:99233441-99233442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192573563	chr7:99233452-99233453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563852310	chr7:99233466-99233467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572635238	chr7:99233497-99233498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs202005749	chr7:99233504-99233505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567475663	chr7:99233510-99233511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182113656	chr7:99233526-99233527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186669872	chr7:99233527-99233528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562874705	chr7:99233531-99233532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs28390670	chr7:99233572-99233573	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs551835122	chr7:99233582-99233583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551092456	chr7:99233586-99233587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184135378	chr7:99233603-99233604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570996522	chr7:99233625-99233626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372021704	chr7:99233635-99233636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189972302	chr7:99233653-99233654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376888679	chr7:99233657-99233658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	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
small cell lung cancer	20016488	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
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Breast cancer	21509527	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Prostate cancer	18632612	CNVD
Cancer	20164919	CNVD

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99215000-99236000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:99223800-99232800	Strong transcription	Primary T cells from cord blood	blood
3	chr7:99224000-99241800	Weak transcription	HSMMtube	muscle
4	chr7:99225200-99233200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr7:99225400-99243000	Weak transcription	Fetal Brain Male	brain
6	chr7:99225800-99241800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr7:99228200-99244200	Weak transcription	Psoas Muscle	Psoas
8	chr7:99228400-99236000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:99228400-99258000	Weak transcription	Colon Smooth Muscle	Colon
10	chr7:99228400-99258800	Weak transcription	Ovary	ovary
11	chr7:99228600-99233600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr7:99228800-99249000	Weak transcription	Small Intestine	intestine
13	chr7:99229000-99233000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr7:99229000-99233400	Weak transcription	NH-A	brain
15	chr7:99229000-99235800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:99229200-99241600	Weak transcription	Brain Angular Gyrus	brain
17	chr7:99229200-99242000	Weak transcription	NHDF-Ad	bronchial
18	chr7:99229200-99243200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr7:99229200-99267400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr7:99229200-99275000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr7:99229400-99233000	Weak transcription	Osteobl	bone
22	chr7:99229400-99236000	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr7:99229400-99236800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr7:99229400-99257400	Weak transcription	Fetal Lung	lung
25	chr7:99229400-99257800	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr7:99229600-99236200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr7:99229800-99235600	Weak transcription	Right Ventricle	heart
28	chr7:99229800-99235800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr7:99229800-99235800	Weak transcription	HSMM	muscle
30	chr7:99229800-99236000	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr7:99229800-99241200	Weak transcription	Aorta	Aorta
32	chr7:99229800-99255400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr7:99229800-99257200	Weak transcription	Esophagus	oesophagus
34	chr7:99229800-99257600	Weak transcription	Pancreas	Pancrea
35	chr7:99229800-99260200	Weak transcription	Left Ventricle	heart
36	chr7:99229800-99272600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr7:99230000-99236000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr7:99230200-99236200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr7:99230200-99236200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr7:99230200-99243000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr7:99230200-99257200	Weak transcription	Gastric	stomach
42	chr7:99230400-99234200	Weak transcription	HUVEC	blood vessel
43	chr7:99230400-99235400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr7:99230400-99241800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr7:99230400-99243800	Weak transcription	NHLF	lung
46	chr7:99230400-99249000	Weak transcription	Colonic Mucosa	Colon
47	chr7:99230400-99257600	Weak transcription	Rectal Smooth Muscle	rectum
48	chr7:99230400-99272000	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr7:99230600-99233000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr7:99230600-99243400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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