Variant report

Variant	nsv436983
Chromosome Location	chr5:96110211-96112083
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:96111913..96114738-chr5:96142530..96144075,2	MCF-7	breast:
2	chr5:96108320..96110323-chr5:96115495..96117815,2	K562	blood:
3	chr5:96111607..96114046-chr5:96142076..96144170,2	MCF-7	breast:
4	chr5:96105857..96109724-chr5:96110706..96115000,6	K562	blood:
5	chr5:96102219..96104201-chr5:96107626..96110248,2	K562	blood:
6	chr5:96092831..96095416-chr5:96110720..96112236,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164307	chromatin interactions
ENSG00000153113	chromatin interactions

Extended variants
information (count: 107 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7063	chr5:96110211-96110212	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs552348011	chr5:96110245-96110246	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs568711440	chr5:96110267-96110268	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs574921616	chr5:96110292-96110293	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs542214171	chr5:96110296-96110297	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs186627243	chr5:96110314-96110315	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs200495924	chr5:96110388-96110389	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs143366467	chr5:96110400-96110401	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs142703274	chr5:96110422-96110423	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540040875	chr5:96110491-96110492	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs564902245	chr5:96110521-96110522	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs7861	chr5:96110544-96110545	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs372656106	chr5:96110580-96110581	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs11135480	chr5:96110582-96110583	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs553755364	chr5:96110586-96110587	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs13601	chr5:96110596-96110597	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs138292903	chr5:96110604-96110605	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs562777108	chr5:96110605-96110606	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs6879878	chr5:96110609-96110610	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs377735000	chr5:96110619-96110620	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs556918309	chr5:96110622-96110623	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs66516475	chr5:96110625-96110626	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs35516223	chr5:96110626-96110627	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs56311676	chr5:96110629-96110630	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs561261896	chr5:96110646-96110647	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs144167589	chr5:96110660-96110661	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs35416079	chr5:96110661-96110662	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs55838324	chr5:96110663-96110664	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs182605212	chr5:96110668-96110669	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs577905166	chr5:96110704-96110705	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs534259638	chr5:96110714-96110715	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs552755308	chr5:96110715-96110716	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs570994690	chr5:96110730-96110731	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs538415247	chr5:96110739-96110740	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs371125920	chr5:96110741-96110742	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs35316964	chr5:96110750-96110751	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs67353525	chr5:96110751-96110752	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs56349735	chr5:96110756-96110757	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs528810851	chr5:96110816-96110817	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs370685142	chr5:96110817-96110818	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs556630904	chr5:96110839-96110840	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs187308049	chr5:96110849-96110850	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs141685529	chr5:96110876-96110877	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs574783101	chr5:96110911-96110912	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs575510411	chr5:96110951-96110952	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs576494506	chr5:96110956-96110957	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs199642233	chr5:96110968-96110969	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs146925065	chr5:96110969-96110970	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs61501216	chr5:96110970-96110971	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs201772624	chr5:96110972-96110973	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
Merkel cell carcinoma	19020549	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
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Multiple myeloma	17550852	CNVD

Chromatin state (count:179 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96063000-96126200	Weak transcription	Brain Germinal Matrix	brain
2	chr5:96068400-96138200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr5:96068600-96130000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr5:96070200-96116400	Strong transcription	Rectal Mucosa Donor 29	rectum
5	chr5:96071000-96112800	Strong transcription	Hela-S3	cervix
6	chr5:96071400-96113000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr5:96071400-96126600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr5:96072600-96115600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr5:96073400-96115600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr5:96075200-96120400	Weak transcription	Fetal Brain Female	brain
11	chr5:96078000-96111200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr5:96079400-96115600	Strong transcription	HMEC	breast
13	chr5:96079400-96126600	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr5:96079600-96112800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr5:96079600-96115400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:96079600-96115600	Strong transcription	NHDF-Ad	bronchial
17	chr5:96079600-96123600	Strong transcription	Placenta	Placenta
18	chr5:96079600-96126400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr5:96079600-96126600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr5:96079600-96126600	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr5:96083800-96116400	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr5:96087200-96113800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr5:96089200-96137000	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr5:96092800-96126600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:96094600-96115600	Strong transcription	HSMM	muscle
26	chr5:96096200-96115800	Strong transcription	NH-A	brain
27	chr5:96096400-96122800	Strong transcription	Primary B cells from cord blood	blood
28	chr5:96096600-96116400	Strong transcription	Skeletal Muscle Female	skeletal muscle
29	chr5:96097400-96113400	Strong transcription	Adipose Nuclei	Adipose
30	chr5:96097400-96113800	Strong transcription	Skeletal Muscle Male	skeletal muscle
31	chr5:96097400-96115000	Strong transcription	Fetal Intestine Large	intestine
32	chr5:96097400-96115800	Strong transcription	Muscle Satellite Cultured Cells	--
33	chr5:96097400-96118000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr5:96097400-96130000	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr5:96097400-96131800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr5:96097400-96138400	Strong transcription	Primary B cells from peripheral blood	blood
37	chr5:96097600-96119200	Strong transcription	Fetal Muscle Trunk	muscle
38	chr5:96097800-96126600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:96097800-96131800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr5:96098000-96113600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr5:96098000-96113800	Strong transcription	Right Ventricle	heart
42	chr5:96098000-96115600	Strong transcription	Osteobl	bone
43	chr5:96098000-96115800	Strong transcription	NHLF	lung
44	chr5:96098000-96116600	Strong transcription	Fetal Muscle Leg	muscle
45	chr5:96098000-96129600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr5:96098000-96137000	Strong transcription	Fetal Lung	lung
47	chr5:96098000-96137600	Strong transcription	Fetal Thymus	thymus
48	chr5:96098200-96122600	Strong transcription	Primary T cells from cord blood	blood
49	chr5:96098200-96128000	Strong transcription	Primary hematopoietic stem cells	blood
50	chr5:96098400-96118600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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