Variant report

Variant	nsv1033956
Chromosome Location	chr5:107640933-107680335
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:107652768..107655007-chr5:107665345..107667956,2	K562	blood:
2	chr5:107678990..107681640-chr5:107716469..107719656,3	MCF-7	breast:
3	chr5:107662350..107665061-chr5:107666147..107667939,2	MCF-7	breast:
4	chr5:107674221..107676262-chr5:107681301..107685297,3	K562	blood:
5	chr5:107673625..107675150-chr5:107717919..107720038,2	K562	blood:
6	chr5:107629129..107630886-chr5:107639365..107641581,2	K562	blood:
7	chr5:107662350..107665061-chr5:107666147..107667939,2	MCF-7	breast:
8	chr5:107596357..107597019-chr5:107678266..107678805,2	MCF-7	breast:
9	chr5:107637065..107639701-chr5:107665572..107668280,2	K562	blood:
10	chr5:107641389..107643591-chr5:107717199..107720025,2	MCF-7	breast:
11	chr5:107652768..107655007-chr5:107665345..107667956,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000145743	chromatin interactions

Extended variants
information (count: 1429 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1429 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565839677	chr5:107640938-107640939	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs143218606	chr5:107640964-107640965	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192704252	chr5:107640973-107640974	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs368962093	chr5:107640975-107640976	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551690604	chr5:107640991-107640992	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184932338	chr5:107640993-107640994	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs147067308	chr5:107640994-107640995	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2063422	chr5:107641069-107641070	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs372307254	chr5:107641085-107641086	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs189779241	chr5:107641111-107641112	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181839160	chr5:107641149-107641150	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs367798475	chr5:107641198-107641199	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs75939202	chr5:107641199-107641200	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs6866453	chr5:107641257-107641258	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs374984423	chr5:107641335-107641336	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552768214	chr5:107641360-107641361	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs184411662	chr5:107641380-107641381	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs188804587	chr5:107641391-107641392	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs568821237	chr5:107641469-107641470	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs558533850	chr5:107641487-107641488	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs578237916	chr5:107641511-107641512	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs543845698	chr5:107641551-107641552	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs181904512	chr5:107641571-107641572	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs529391786	chr5:107641672-107641673	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs543136687	chr5:107641708-107641709	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs186077102	chr5:107641715-107641716	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs138358949	chr5:107641730-107641731	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs141843735	chr5:107641770-107641771	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs150180374	chr5:107641771-107641772	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs76718299	chr5:107641795-107641796	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs550182183	chr5:107641798-107641799	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs558119621	chr5:107641835-107641836	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs189904375	chr5:107641853-107641854	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs566548992	chr5:107641870-107641871	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs571068050	chr5:107641891-107641892	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs575240722	chr5:107641901-107641902	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs553069701	chr5:107641903-107641904	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs73214586	chr5:107641937-107641938	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs535222558	chr5:107641943-107641944	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs180862398	chr5:107641950-107641951	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs578253657	chr5:107641954-107641955	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs138110219	chr5:107641961-107641962	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs186500735	chr5:107641968-107641969	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs574013389	chr5:107641978-107641979	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs80019294	chr5:107641987-107641988	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs559847109	chr5:107642051-107642052	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs528531968	chr5:107642076-107642077	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs191344569	chr5:107642116-107642117	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs564708880	chr5:107642137-107642138	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs182868325	chr5:107642144-107642145	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:173 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:107604800-107644400	Weak transcription	Fetal Intestine Small	intestine
2	chr5:107615000-107705600	Weak transcription	Left Ventricle	heart
3	chr5:107615200-107660400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr5:107620600-107678600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr5:107620800-107643600	Weak transcription	Primary B cells from cord blood	blood
6	chr5:107630200-107662600	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr5:107632400-107651600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:107633200-107661600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:107634200-107679400	Weak transcription	Fetal Intestine Large	intestine
10	chr5:107639200-107642400	Weak transcription	Right Ventricle	heart
11	chr5:107639600-107644600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr5:107639800-107651400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr5:107639800-107697200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:107640800-107641600	Strong transcription	Primary T cells from cord blood	blood
15	chr5:107641000-107641200	Enhancers	Pancreas	Pancrea
16	chr5:107641200-107641400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr5:107641400-107645200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr5:107641600-107662200	Weak transcription	Primary T cells from cord blood	blood
19	chr5:107642000-107645000	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr5:107643600-107644600	Strong transcription	Primary B cells from cord blood	blood
21	chr5:107644600-107669600	Weak transcription	Primary B cells from cord blood	blood
22	chr5:107645000-107651600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr5:107646600-107652400	Weak transcription	Fetal Thymus	thymus
24	chr5:107646800-107647000	Enhancers	Psoas Muscle	Psoas
25	chr5:107647000-107648000	Weak transcription	Psoas Muscle	Psoas
26	chr5:107647200-107647600	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr5:107647400-107647600	Enhancers	Brain Anterior Caudate	brain
28	chr5:107647400-107647800	Enhancers	Brain Cingulate Gyrus	brain
29	chr5:107647600-107648800	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr5:107647800-107648000	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr5:107647800-107648000	Enhancers	Colon Smooth Muscle	Colon
32	chr5:107648000-107648200	Enhancers	Psoas Muscle	Psoas
33	chr5:107648000-107648200	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr5:107648000-107648600	Weak transcription	Colon Smooth Muscle	Colon
35	chr5:107648000-107704800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr5:107648200-107648400	Enhancers	Fetal Heart	heart
37	chr5:107648200-107649000	Weak transcription	Psoas Muscle	Psoas
38	chr5:107648600-107649200	Enhancers	Colon Smooth Muscle	Colon
39	chr5:107649000-107649200	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr5:107649000-107649200	Enhancers	Psoas Muscle	Psoas
41	chr5:107650600-107652000	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr5:107651000-107662200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr5:107651400-107652000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr5:107651400-107652000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr5:107651400-107652200	Enhancers	Muscle Satellite Cultured Cells	--
46	chr5:107651600-107652000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr5:107651600-107652000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr5:107651600-107652000	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr5:107651600-107652000	Enhancers	Rectal Smooth Muscle	rectum
50	chr5:107651600-107652000	Enhancers	A549	lung

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