Variant report

Variant	nsv524905
Chromosome Location	chr7:83911271-83944506
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:4)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:83910288..83912850-chr7:83915502..83917742,2	MCF-7	breast:
2	chr7:83931885..83934737-chr7:83944404..83946185,3	K562	blood:
3	chr7:83910288..83912850-chr7:83915502..83917742,2	MCF-7	breast:
4	chr7:83931885..83934737-chr7:83944404..83946185,3	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SEMA3D-5	chr7:83936523-83936608	NONHSAT121787
2	lnc-SEMA3D-5	chr7:83935698-83935927	NONHSAT121786
3	lnc-SEMA3D-5	chr7:83936523-83936608	NONHSAT121786

No data

Extended variants
information (count: 1237 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:1237 , 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	rs488333	chr7:83911271-83911272	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
2	rs59823464	chr7:83911285-83911286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs150016673	chr7:83911294-83911295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546873441	chr7:83911354-83911355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs367759009	chr7:83911362-83911363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190750992	chr7:83911375-83911376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs571710804	chr7:83911397-83911398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557819268	chr7:83911399-83911400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532733626	chr7:83911408-83911409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs527357428	chr7:83911444-83911445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs183358192	chr7:83911452-83911453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569183895	chr7:83911464-83911465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs536679265	chr7:83911478-83911479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs554906954	chr7:83911499-83911500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567040992	chr7:83911590-83911591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs187212449	chr7:83911593-83911594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs36020802	chr7:83911666-83911667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs192916472	chr7:83911699-83911700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs144998523	chr7:83911712-83911713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs111902164	chr7:83911731-83911732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs6978737	chr7:83911749-83911750	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs575575646	chr7:83911765-83911766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs374065716	chr7:83911794-83911795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs543068035	chr7:83911805-83911806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567183032	chr7:83911812-83911813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113765868	chr7:83911910-83911911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188156264	chr7:83911915-83911916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149096172	chr7:83911953-83911954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536224300	chr7:83911964-83911965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs143163345	chr7:83911982-83911983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114001486	chr7:83912030-83912031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565379138	chr7:83912071-83912072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192634020	chr7:83912088-83912089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112993975	chr7:83912100-83912101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs57499577	chr7:83912105-83912106	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs569221726	chr7:83912107-83912108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569493	chr7:83912124-83912125	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs375690933	chr7:83912137-83912138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566881689	chr7:83912238-83912239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs534601374	chr7:83912244-83912245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs183926801	chr7:83912257-83912258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs571298805	chr7:83912270-83912271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs538470890	chr7:83912338-83912339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs36114095	chr7:83912341-83912342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs557167019	chr7:83912378-83912379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs150526169	chr7:83912435-83912436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs188353820	chr7:83912437-83912438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs181840194	chr7:83912441-83912442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs542904769	chr7:83912442-83912443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs184935856	chr7:83912469-83912470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Bipolar disorder	19114987	CNVD

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83894200-83924000	Weak transcription	NHDF-Ad	bronchial
2	chr7:83903800-83911400	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr7:83908200-83913600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:83908200-83913600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr7:83910200-83911600	Enhancers	Fetal Intestine Large	intestine
6	chr7:83910400-83911800	Enhancers	Fetal Intestine Small	intestine
7	chr7:83911400-83911600	Enhancers	Duodenum Smooth Muscle	Duodenum
8	chr7:83911600-83912400	Weak transcription	Fetal Intestine Large	intestine
9	chr7:83911800-83912200	Weak transcription	Fetal Intestine Small	intestine
10	chr7:83912200-83912600	Enhancers	Fetal Intestine Small	intestine
11	chr7:83912400-83912600	Enhancers	Fetal Intestine Large	intestine
12	chr7:83913600-83913800	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr7:83913600-83914400	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr7:83913800-83921200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr7:83915000-83915200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:83921000-83921400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr7:83921000-83921400	Enhancers	H9 Cell Line	embryonic stem cell
18	chr7:83921000-83921400	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr7:83921000-83921400	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr7:83921000-83921600	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr7:83921000-83922000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr7:83921200-83921600	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr7:83921200-83921600	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr7:83921200-83921600	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr7:83921200-83921600	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr7:83921200-83921600	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr7:83924000-83924400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr7:83924000-83924400	Enhancers	NHDF-Ad	bronchial
29	chr7:83924200-83924600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr7:83924400-83943800	Weak transcription	NHDF-Ad	bronchial
31	chr7:83930800-83950000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr7:83931600-83932400	Weak transcription	Colon Smooth Muscle	Colon
33	chr7:83931800-83932800	Enhancers	NHEK	skin
34	chr7:83932000-83932600	Enhancers	Placenta Amnion	Placenta Amnion
35	chr7:83932000-83932800	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr7:83932000-83932800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr7:83932000-83933200	Enhancers	HMEC	breast
38	chr7:83932400-83932600	Enhancers	Colon Smooth Muscle	Colon
39	chr7:83932400-83932600	Enhancers	Esophagus	oesophagus
40	chr7:83932400-83932600	Enhancers	Rectal Smooth Muscle	rectum
41	chr7:83932400-83933600	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr7:83932600-83935800	Weak transcription	Colon Smooth Muscle	Colon
43	chr7:83932600-83936800	Weak transcription	Rectal Smooth Muscle	rectum
44	chr7:83932800-83933600	Enhancers	Stomach Mucosa	stomach
45	chr7:83933000-83933600	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr7:83935800-83936400	Enhancers	Colon Smooth Muscle	Colon
47	chr7:83936400-83936800	Weak transcription	Colon Smooth Muscle	Colon
48	chr7:83936800-83937000	Enhancers	Colon Smooth Muscle	Colon
49	chr7:83936800-83937000	Enhancers	Rectal Smooth Muscle	rectum
50	chr7:83937000-83938800	Weak transcription	Colon Smooth Muscle	Colon

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