Variant report

Variant	nsv888624
Chromosome Location	chr7:83596683-83698177
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:83605077..83606197-chr7:83817893..83818565,3	MCF-7	breast:
2	chr7:83605355..83608289-chr7:84651623..84654249,2	K562	blood:
3	chr7:83644236..83646821-chr7:83830858..83833552,2	K562	blood:
4	chr7:83605491..83606239-chr7:83817845..83818667,6	MCF-7	breast:
5	chr7:83628708..83631589-chr7:83641659..83643876,2	MCF-7	breast:
6	chr7:83605262..83606224-chr7:84652102..84653080,8	K562	blood:
7	chr7:83628708..83631589-chr7:83641659..83643876,2	MCF-7	breast:
8	chr7:83662207..83663714-chr7:83668037..83670808,2	K562	blood:
9	chr7:83663877..83666822-chr7:83667215..83669958,2	K562	blood:
10	chr7:83628560..83631062-chr7:83675861..83678781,2	MCF-7	breast:
11	chr7:83605508..83606179-chr7:84652140..84652780,2	MCF-7	breast:
12	chr7:83565232..83565801-chr7:83605263..83606020,2	MCF-7	breast:
13	chr7:83604858..83606132-chr7:84650893..84651808,3	MCF-7	breast:
14	chr7:83628560..83631062-chr7:83675861..83678781,2	MCF-7	breast:
15	chr7:83663877..83666822-chr7:83667215..83669958,2	K562	blood:
16	chr7:83662207..83663714-chr7:83668037..83670808,2	K562	blood:
17	chr7:83605282..83606187-chr7:84649300..84650793,4	K562	blood:

No data

Extended variants
information (count: 4144 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:4144 , 50 per page) page: 1 2 3 4 5 6 7 ... 83

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs797810	chr7:83596683-83596684	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs371151575	chr7:83596703-83596704	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185930895	chr7:83596710-83596711	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189611181	chr7:83596721-83596722	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs137983997	chr7:83596735-83596736	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181824548	chr7:83596764-83596765	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142555064	chr7:83596812-83596813	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543345490	chr7:83596845-83596846	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs62473897	chr7:83596874-83596875	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs10246414	chr7:83596875-83596876	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs547822359	chr7:83596888-83596889	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559851946	chr7:83596922-83596923	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533487253	chr7:83596931-83596932	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs150147252	chr7:83597005-83597006	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570141351	chr7:83597025-83597026	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs797809	chr7:83597066-83597067	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186386914	chr7:83597091-83597092	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533085083	chr7:83597103-83597104	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190985424	chr7:83597139-83597140	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs116108153	chr7:83597188-83597189	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567627296	chr7:83597273-83597274	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535047552	chr7:83597331-83597332	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372823113	chr7:83597342-83597343	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182773240	chr7:83597345-83597346	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs187017400	chr7:83597359-83597360	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190994293	chr7:83597361-83597362	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs138634183	chr7:83597362-83597363	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557876556	chr7:83597430-83597431	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576156894	chr7:83597498-83597499	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552092351	chr7:83597533-83597534	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546912125	chr7:83597548-83597549	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183454106	chr7:83597599-83597600	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574000078	chr7:83597716-83597717	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541409929	chr7:83597730-83597731	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187571282	chr7:83597802-83597803	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191565404	chr7:83597818-83597819	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs149327744	chr7:83597858-83597859	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs75950464	chr7:83597874-83597875	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs71557196	chr7:83597981-83597982	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs71557197	chr7:83597984-83597985	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530965121	chr7:83598022-83598023	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563201094	chr7:83598040-83598041	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182368760	chr7:83598048-83598049	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187747963	chr7:83598058-83598059	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372033063	chr7:83598097-83598098	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376319252	chr7:83598101-83598102	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76840275	chr7:83598121-83598122	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs35953035	chr7:83598132-83598133	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs397889610	chr7:83598142-83598143	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs34837012	chr7:83598143-83598144	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	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
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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Williams-beuren syndrome	16826523	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	19318497	CNVD
Multiple myeloma	16616336	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21611746	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:910 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83585600-83597800	Weak transcription	Gastric	stomach
2	chr7:83588200-83605200	Weak transcription	Colon Smooth Muscle	Colon
3	chr7:83588800-83599400	Weak transcription	Fetal Brain Male	brain
4	chr7:83588800-83624600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr7:83589000-83605000	Weak transcription	Hela-S3	cervix
6	chr7:83589000-83654600	Weak transcription	Fetal Stomach	stomach
7	chr7:83589200-83616600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:83589400-83605200	Weak transcription	Fetal Intestine Small	intestine
9	chr7:83591000-83599200	Weak transcription	Fetal Brain Female	brain
10	chr7:83591000-83624200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr7:83591000-83633800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:83591200-83599200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr7:83591200-83599600	Weak transcription	Fetal Kidney	kidney
14	chr7:83591200-83607600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr7:83591200-83614400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr7:83591200-83615800	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr7:83591200-83634200	Weak transcription	Stomach Smooth Muscle	stomach
18	chr7:83591200-83638400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr7:83591200-83654600	Weak transcription	Fetal Muscle Leg	muscle
20	chr7:83591800-83604600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr7:83591800-83624600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr7:83592600-83599400	Weak transcription	Fetal Lung	lung
23	chr7:83592600-83626400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr7:83592800-83602000	Weak transcription	NHDF-Ad	bronchial
25	chr7:83592800-83603400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr7:83596400-83610400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:83596600-83598000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr7:83596600-83599800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr7:83598000-83602800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr7:83599200-83599800	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr7:83599200-83599800	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr7:83599200-83599800	Enhancers	Fetal Brain Female	brain
33	chr7:83599400-83599800	Enhancers	Fetal Brain Male	brain
34	chr7:83599400-83599800	Enhancers	Fetal Lung	lung
35	chr7:83599600-83600000	Enhancers	Fetal Kidney	kidney
36	chr7:83599800-83601200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr7:83599800-83603600	Weak transcription	Fetal Lung	lung
38	chr7:83599800-83611000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr7:83600000-83613000	Weak transcription	Fetal Kidney	kidney
40	chr7:83601200-83602000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr7:83602000-83603400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr7:83602000-83603400	Strong transcription	NHDF-Ad	bronchial
43	chr7:83602800-83606000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr7:83603400-83603600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr7:83603400-83603800	Weak transcription	NHDF-Ad	bronchial
46	chr7:83603400-83604400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr7:83603600-83604000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr7:83603600-83604400	Enhancers	Fetal Lung	lung
49	chr7:83603800-83604000	Strong transcription	NHDF-Ad	bronchial
50	chr7:83604000-83605600	Weak transcription	NHDF-Ad	bronchial

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