Variant report

Variant	nsv526147
Chromosome Location	chr7:101496391-101497449
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:101457659..101461443-chr7:101493217..101497871,6	MCF-7	breast:
2	chr7:101492252..101496908-chr7:101497174..101502895,8	K562	blood:
3	chr7:101456928..101460439-chr7:101497000..101502046,10	K562	blood:
4	chr7:101495343..101497558-chr7:101508444..101510099,2	MCF-7	breast:
5	chr7:101458410..101460758-chr7:101496276..101497837,2	MCF-7	breast:
6	chr7:101492252..101496908-chr7:101497174..101502895,8	K562	blood:
7	chr7:101478135..101485394-chr7:101496220..101502463,10	K562	blood:
8	chr7:101488351..101490093-chr7:101494145..101496604,2	K562	blood:
9	chr7:101455967..101463882-chr7:101497000..101502046,12	K562	blood:
10	chr7:101466881..101469385-chr7:101495736..101498115,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000257923	chromatin interactions
ENSG00000259294	chromatin interactions

Extended variants
information (count: 38 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2970458	chr7:101496391-101496392	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs189485851	chr7:101496436-101496437	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs377102710	chr7:101496453-101496454	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs558466195	chr7:101496498-101496499	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs576713849	chr7:101496500-101496501	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs4236557	chr7:101496532-101496533	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs79016882	chr7:101496584-101496585	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs554151639	chr7:101496605-101496606	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs572307681	chr7:101496750-101496751	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs573511070	chr7:101496751-101496752	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs192484623	chr7:101496769-101496770	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs559435780	chr7:101496844-101496845	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs199860294	chr7:101496862-101496863	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs34093314	chr7:101496863-101496864	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs137946367	chr7:101496865-101496866	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs28575413	chr7:101496866-101496867	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs200421578	chr7:101496867-101496868	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs543108166	chr7:101496873-101496874	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs59324904	chr7:101496902-101496903	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs561362454	chr7:101496935-101496936	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs139154121	chr7:101496981-101496982	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs544014833	chr7:101497014-101497015	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs75939103	chr7:101497026-101497027	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs149338921	chr7:101497028-101497029	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs183635683	chr7:101497050-101497051	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs565680821	chr7:101497095-101497096	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs544939943	chr7:101497097-101497098	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs144702855	chr7:101497103-101497104	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs35353051	chr7:101497113-101497114	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs531559692	chr7:101497155-101497156	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs536883048	chr7:101497171-101497172	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs558310107	chr7:101497217-101497218	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs550305813	chr7:101497266-101497267	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs570285628	chr7:101497267-101497268	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs568554562	chr7:101497322-101497323	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs79364329	chr7:101497348-101497349	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs113420336	chr7:101497448-101497449	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs13232623	chr7:101497449-101497450	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:94)

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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	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
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Cancer	19907438	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101466800-101498400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:101470000-101496600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr7:101476200-101500000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr7:101490000-101498400	Weak transcription	Right Ventricle	heart
5	chr7:101490200-101498600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr7:101490800-101496400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:101490800-101496400	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr7:101490800-101496800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr7:101490800-101496800	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr7:101490800-101497000	Weak transcription	Left Ventricle	heart
11	chr7:101490800-101497400	Weak transcription	Spleen	Spleen
12	chr7:101490800-101498400	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr7:101490800-101498400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr7:101490800-101498400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr7:101490800-101498800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr7:101490800-101499200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr7:101490800-101499400	Weak transcription	Fetal Lung	lung
18	chr7:101490800-101499400	Weak transcription	Hela-S3	cervix
19	chr7:101490800-101499400	Weak transcription	Osteobl	bone
20	chr7:101490800-101499600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr7:101490800-101499600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr7:101490800-101499600	Weak transcription	HSMMtube	muscle
23	chr7:101491000-101496400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr7:101491000-101496800	Weak transcription	K562	blood
25	chr7:101491000-101497000	Weak transcription	Fetal Muscle Leg	muscle
26	chr7:101491000-101499200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr7:101491000-101499400	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr7:101491000-101499400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr7:101491000-101499400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr7:101491800-101497000	Weak transcription	Primary hematopoietic stem cells	blood
31	chr7:101491800-101497000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr7:101491800-101499400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr7:101491800-101499600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr7:101492000-101497000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr7:101492000-101497200	Weak transcription	Primary T cells from cord blood	blood
36	chr7:101492000-101497800	Weak transcription	A549	lung
37	chr7:101492000-101499600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr7:101492000-101499600	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr7:101492200-101499200	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr7:101492200-101499800	Weak transcription	Psoas Muscle	Psoas
41	chr7:101492400-101496400	Weak transcription	Dnd41	blood
42	chr7:101492400-101498600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr7:101492600-101497000	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr7:101492600-101498200	Weak transcription	Colonic Mucosa	Colon
45	chr7:101492600-101499200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr7:101492800-101496400	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr7:101493000-101497400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr7:101493000-101497600	Weak transcription	Primary B cells from peripheral blood	blood
49	chr7:101494400-101497200	Weak transcription	Small Intestine	intestine
50	chr7:101494800-101497000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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