Variant report

Variant	nsv1030202
Chromosome Location	chr5:107634887-107680335
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

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

No data

Variant related genes	Relation type
ENSG00000145743	chromatin interactions

Extended variants
information (count: 1620 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1620 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17452357	chr5:107634994-107634995	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs558655786	chr5:107634997-107634998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552854065	chr5:107635054-107635055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183712990	chr5:107635122-107635123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568361925	chr5:107635199-107635200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369943064	chr5:107635212-107635213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535334706	chr5:107635219-107635220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs138271420	chr5:107635228-107635229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574396282	chr5:107635230-107635231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs367831448	chr5:107635249-107635250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs373477712	chr5:107635265-107635266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543310232	chr5:107635348-107635349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371447602	chr5:107635355-107635356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553115574	chr5:107635415-107635416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573217975	chr5:107635452-107635453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545063806	chr5:107635479-107635480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188187104	chr5:107635533-107635534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530865652	chr5:107635638-107635639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544008068	chr5:107635655-107635656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560712239	chr5:107635761-107635762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544045452	chr5:107635806-107635807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145618552	chr5:107635838-107635839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564014801	chr5:107635860-107635861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529957975	chr5:107635861-107635862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149554703	chr5:107635899-107635900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181299240	chr5:107635954-107635955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556564785	chr5:107636017-107636018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs143899633	chr5:107636027-107636028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144623260	chr5:107636040-107636041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186295937	chr5:107636061-107636062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568979641	chr5:107636129-107636130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190166672	chr5:107636197-107636198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574876477	chr5:107636199-107636200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs74293770	chr5:107636232-107636233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs34556997	chr5:107636262-107636263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567833299	chr5:107636282-107636283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs60251636	chr5:107636325-107636326	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs553667993	chr5:107636384-107636385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573455150	chr5:107636389-107636390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544517687	chr5:107636434-107636435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181787779	chr5:107636459-107636460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557829721	chr5:107636476-107636477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs117683200	chr5:107636537-107636538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148470387	chr5:107636573-107636574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572803007	chr5:107636599-107636600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561023554	chr5:107636626-107636627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs141760542	chr5:107636636-107636637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540046301	chr5:107636679-107636680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560446790	chr5:107636694-107636695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532262928	chr5:107636795-107636796	Weak transcription	n/a	n/a	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:183 , 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	chr5:107620400-107640800	Weak transcription	Primary T cells from cord blood	blood
5	chr5:107620600-107678600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr5:107620800-107643600	Weak transcription	Primary B cells from cord blood	blood
7	chr5:107630200-107662600	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr5:107632400-107639000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:107632400-107651600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:107633200-107661600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:107634200-107679400	Weak transcription	Fetal Intestine Large	intestine
12	chr5:107634600-107635000	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr5:107634600-107635000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr5:107639000-107639200	Enhancers	Right Ventricle	heart
15	chr5:107639000-107639400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr5:107639000-107639800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:107639000-107639800	Enhancers	NHEK	skin
18	chr5:107639200-107642400	Weak transcription	Right Ventricle	heart
19	chr5:107639400-107639600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr5:107639600-107639800	Enhancers	Muscle Satellite Cultured Cells	--
21	chr5:107639600-107644600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr5:107639800-107651400	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr5:107639800-107697200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr5:107640800-107641600	Strong transcription	Primary T cells from cord blood	blood
25	chr5:107641000-107641200	Enhancers	Pancreas	Pancrea
26	chr5:107641200-107641400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr5:107641400-107645200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr5:107641600-107662200	Weak transcription	Primary T cells from cord blood	blood
29	chr5:107642000-107645000	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr5:107643600-107644600	Strong transcription	Primary B cells from cord blood	blood
31	chr5:107644600-107669600	Weak transcription	Primary B cells from cord blood	blood
32	chr5:107645000-107651600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr5:107646600-107652400	Weak transcription	Fetal Thymus	thymus
34	chr5:107646800-107647000	Enhancers	Psoas Muscle	Psoas
35	chr5:107647000-107648000	Weak transcription	Psoas Muscle	Psoas
36	chr5:107647200-107647600	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr5:107647400-107647600	Enhancers	Brain Anterior Caudate	brain
38	chr5:107647400-107647800	Enhancers	Brain Cingulate Gyrus	brain
39	chr5:107647600-107648800	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr5:107647800-107648000	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr5:107647800-107648000	Enhancers	Colon Smooth Muscle	Colon
42	chr5:107648000-107648200	Enhancers	Psoas Muscle	Psoas
43	chr5:107648000-107648200	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr5:107648000-107648600	Weak transcription	Colon Smooth Muscle	Colon
45	chr5:107648000-107704800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr5:107648200-107648400	Enhancers	Fetal Heart	heart
47	chr5:107648200-107649000	Weak transcription	Psoas Muscle	Psoas
48	chr5:107648600-107649200	Enhancers	Colon Smooth Muscle	Colon
49	chr5:107649000-107649200	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr5:107649000-107649200	Enhancers	Psoas Muscle	Psoas

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