Variant report

Variant	esv1793815
Chromosome Location	chr7:83909503-83997755
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:5)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 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	chr7:83931885..83934737-chr7:83944404..83946185,3	K562	blood:
4	chr7:83910288..83912850-chr7:83915502..83917742,2	MCF-7	breast:
5	chr7:83997135..83999368-chr7:84002385..84004058,2	K562	blood:

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

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

No data

Extended variants
information (count: 3126 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:3126 , 50 per page) page: 1 2 3 4 5 6 7 ... 63

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111606611	chr7:83909509-83909510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs555961522	chr7:83909552-83909553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574407837	chr7:83909557-83909558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1006794	chr7:83909575-83909576	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs192856678	chr7:83909605-83909606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs74982318	chr7:83909652-83909653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184773649	chr7:83909657-83909658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564242333	chr7:83909686-83909687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2158321	chr7:83909695-83909696	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs73711505	chr7:83909703-83909704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs17244895	chr7:83909738-83909739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111329256	chr7:83909819-83909820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73185127	chr7:83909859-83909860	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs559084315	chr7:83909903-83909904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547330189	chr7:83909916-83909917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575777810	chr7:83909930-83909931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140671011	chr7:83909954-83909955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533388720	chr7:83909993-83909994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551467908	chr7:83910022-83910023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189283918	chr7:83910028-83910029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373836175	chr7:83910029-83910030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537513669	chr7:83910034-83910035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549600778	chr7:83910037-83910038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181030234	chr7:83910051-83910052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184895504	chr7:83910052-83910053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553657669	chr7:83910063-83910064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs377622726	chr7:83910086-83910087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs578177235	chr7:83910137-83910138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539436374	chr7:83910167-83910168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189584635	chr7:83910206-83910207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs575737158	chr7:83910267-83910268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs181550836	chr7:83910302-83910303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs561440463	chr7:83910314-83910315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs573545109	chr7:83910315-83910316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs185971722	chr7:83910326-83910327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs540637374	chr7:83910431-83910432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs191689465	chr7:83910446-83910447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs533042339	chr7:83910500-83910501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs551772887	chr7:83910521-83910522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs144622156	chr7:83910524-83910525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs528275373	chr7:83910534-83910535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs77013985	chr7:83910560-83910561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs181104770	chr7:83910584-83910585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs59693860	chr7:83910588-83910589	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs567740604	chr7:83910669-83910670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs535266885	chr7:83910699-83910700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs546845229	chr7:83910774-83910775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs147896222	chr7:83910786-83910787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs538918534	chr7:83910801-83910802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs112917041	chr7:83910821-83910822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:193 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83894200-83924000	Weak transcription	NHDF-Ad	bronchial
2	chr7:83901400-83910600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:83903800-83911400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr7:83908200-83913600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr7:83908200-83913600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr7:83910200-83911600	Enhancers	Fetal Intestine Large	intestine
7	chr7:83910400-83911800	Enhancers	Fetal Intestine Small	intestine
8	chr7:83911400-83911600	Enhancers	Duodenum Smooth Muscle	Duodenum
9	chr7:83911600-83912400	Weak transcription	Fetal Intestine Large	intestine
10	chr7:83911800-83912200	Weak transcription	Fetal Intestine Small	intestine
11	chr7:83912200-83912600	Enhancers	Fetal Intestine Small	intestine
12	chr7:83912400-83912600	Enhancers	Fetal Intestine Large	intestine
13	chr7:83913600-83913800	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr7:83913600-83914400	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr7:83913800-83921200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr7:83915000-83915200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:83921000-83921400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr7:83921000-83921400	Enhancers	H9 Cell Line	embryonic stem cell
19	chr7:83921000-83921400	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr7:83921000-83921400	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr7:83921000-83921600	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr7:83921000-83922000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:83921200-83921600	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr7:83921200-83921600	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr7:83921200-83921600	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr7:83921200-83921600	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr7:83921200-83921600	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr7:83924000-83924400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr7:83924000-83924400	Enhancers	NHDF-Ad	bronchial
30	chr7:83924200-83924600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr7:83924400-83943800	Weak transcription	NHDF-Ad	bronchial
32	chr7:83930800-83950000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr7:83931600-83932400	Weak transcription	Colon Smooth Muscle	Colon
34	chr7:83931800-83932800	Enhancers	NHEK	skin
35	chr7:83932000-83932600	Enhancers	Placenta Amnion	Placenta Amnion
36	chr7:83932000-83932800	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr7:83932000-83932800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr7:83932000-83933200	Enhancers	HMEC	breast
39	chr7:83932400-83932600	Enhancers	Colon Smooth Muscle	Colon
40	chr7:83932400-83932600	Enhancers	Esophagus	oesophagus
41	chr7:83932400-83932600	Enhancers	Rectal Smooth Muscle	rectum
42	chr7:83932400-83933600	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr7:83932600-83935800	Weak transcription	Colon Smooth Muscle	Colon
44	chr7:83932600-83936800	Weak transcription	Rectal Smooth Muscle	rectum
45	chr7:83932800-83933600	Enhancers	Stomach Mucosa	stomach
46	chr7:83933000-83933600	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr7:83935800-83936400	Enhancers	Colon Smooth Muscle	Colon
48	chr7:83936400-83936800	Weak transcription	Colon Smooth Muscle	Colon
49	chr7:83936800-83937000	Enhancers	Colon Smooth Muscle	Colon
50	chr7:83936800-83937000	Enhancers	Rectal Smooth Muscle	rectum

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