Variant report

Variant	nsv607430
Chromosome Location	chr7:69658160-69702047
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:69681271..69684117-chr7:69686002..69687637,2	K562	blood:
2	chr7:69679433..69681013-chr7:69692321..69694747,2	K562	blood:
3	chr7:69681271..69684117-chr7:69686002..69687637,2	K562	blood:
4	chr1:12410651..12411212-chr7:69674323..69674880,2	MCF-7	breast:
5	chr7:69652043..69654118-chr7:69657486..69659961,3	MCF-7	breast:
6	chr7:69701411..69704010-chr7:69707383..69709265,2	K562	blood:
7	chr7:69679433..69681013-chr7:69692321..69694747,2	K562	blood:

Extended variants
information (count: 1217 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1217 , 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	rs10499813	chr7:69658160-69658161	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs187396067	chr7:69658176-69658177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191673085	chr7:69658228-69658229	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs202180807	chr7:69658246-69658247	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371631718	chr7:69658284-69658285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs34215431	chr7:69658345-69658346	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs183951026	chr7:69658378-69658379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs116790812	chr7:69658412-69658413	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138085694	chr7:69658433-69658434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554062756	chr7:69658435-69658436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs78597236	chr7:69658467-69658468	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542886758	chr7:69658521-69658522	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561363445	chr7:69658578-69658579	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554348525	chr7:69658674-69658675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188944065	chr7:69658738-69658739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs142653272	chr7:69658795-69658796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562653231	chr7:69658806-69658807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs150574299	chr7:69658808-69658809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551564223	chr7:69658824-69658825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139557011	chr7:69658855-69658856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149701605	chr7:69658877-69658878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549262595	chr7:69658894-69658895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567549547	chr7:69658905-69658906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538270770	chr7:69658908-69658909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550195503	chr7:69659015-69659016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571752161	chr7:69659019-69659020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538712104	chr7:69659042-69659043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144477415	chr7:69659045-69659046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs28464032	chr7:69659092-69659093	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs193059739	chr7:69659123-69659124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374747873	chr7:69659133-69659134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs6651055	chr7:69659225-69659226	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs543846192	chr7:69659269-69659270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555847534	chr7:69659287-69659288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373382146	chr7:69659328-69659329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184642768	chr7:69659372-69659373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186783977	chr7:69659415-69659416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191787786	chr7:69659424-69659425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184004147	chr7:69659511-69659512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189126437	chr7:69659558-69659559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375538843	chr7:69659606-69659607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531626805	chr7:69659628-69659629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs6961345	chr7:69659629-69659630	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs144980388	chr7:69659637-69659638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs193050749	chr7:69659641-69659642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544136395	chr7:69659655-69659656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147747857	chr7:69659674-69659675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566143991	chr7:69659717-69659718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536498175	chr7:69659807-69659808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs142665389	chr7:69659858-69659859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
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
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
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	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
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16461572	CNVD
Acute monocytic leukemia	16498392	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18765545	CNVD
Chordoma	18071362	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD
Autism	19246517	CNVD
Williams Syndrome	20824207	CNVD

Chromatin state (count:136 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69655000-69692400	Weak transcription	Primary B cells from cord blood	blood
2	chr7:69658200-69658600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr7:69658400-69658600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr7:69658600-69661800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr7:69660600-69663200	Weak transcription	Primary B cells from peripheral blood	blood
6	chr7:69660800-69661200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr7:69661200-69662000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr7:69661800-69662200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
9	chr7:69662000-69662200	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr7:69662000-69662200	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr7:69662000-69662400	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr7:69662000-69662400	Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr7:69662200-69662400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr7:69662200-69662400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr7:69670000-69670200	Enhancers	Psoas Muscle	Psoas
16	chr7:69670000-69670800	Enhancers	Fetal Intestine Large	intestine
17	chr7:69670200-69675600	Weak transcription	Psoas Muscle	Psoas
18	chr7:69670600-69670800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:69670600-69670800	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr7:69670600-69671400	Enhancers	Ovary	ovary
21	chr7:69670800-69671800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr7:69670800-69672600	Weak transcription	Fetal Intestine Large	intestine
23	chr7:69670800-69674600	Enhancers	Fetal Intestine Small	intestine
24	chr7:69670800-69674800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:69671400-69676600	Weak transcription	Ovary	ovary
26	chr7:69671800-69672200	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr7:69672000-69672200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr7:69672600-69673600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr7:69672600-69674000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr7:69672600-69674600	Enhancers	Fetal Intestine Large	intestine
31	chr7:69672600-69676000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr7:69673000-69674000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr7:69673000-69674200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr7:69673200-69674200	Enhancers	NH-A	brain
35	chr7:69673200-69674200	Enhancers	Osteobl	bone
36	chr7:69673200-69674400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr7:69673200-69674400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr7:69673200-69674400	Enhancers	NHEK	skin
39	chr7:69673200-69676200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:69673400-69676200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr7:69673600-69673800	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr7:69673600-69674000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
43	chr7:69673600-69674000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr7:69673600-69674000	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr7:69673600-69674000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr7:69673600-69674000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr7:69673600-69674200	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr7:69673600-69674200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr7:69673600-69674200	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr7:69673600-69674200	Enhancers	Muscle Satellite Cultured Cells	--

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