Variant report

Variant	nsv969269
Chromosome Location	chr5:100203441-100208973
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:100185049..100186572-chr5:100203606..100206571,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLCO4C1-5	chr5:100206203-100207715	NONHSAT103012

Extended variants
information (count: 161 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:161 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185356854	chr5:100203446-100203447	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs541044342	chr5:100203447-100203448	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs114018871	chr5:100203470-100203471	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs578241120	chr5:100203484-100203485	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs150049420	chr5:100203532-100203533	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs189293089	chr5:100203610-100203611	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181995331	chr5:100203617-100203618	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs187605976	chr5:100203637-100203638	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs375191402	chr5:100203641-100203642	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551015773	chr5:100203665-100203666	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546098299	chr5:100203712-100203713	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs191481292	chr5:100203776-100203777	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs11746550	chr5:100203816-100203817	Strong transcription Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs113807273	chr5:100203906-100203907	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532247517	chr5:100203916-100203917	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs550368600	chr5:100203933-100203934	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs568749735	chr5:100203957-100203958	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182174109	chr5:100203968-100203969	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs555855902	chr5:100203969-100203970	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs562833002	chr5:100203975-100203976	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs369961616	chr5:100203976-100203977	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs567638284	chr5:100203984-100203985	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs535032765	chr5:100204050-100204051	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186310522	chr5:100204097-100204098	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190136782	chr5:100204189-100204190	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs578250551	chr5:100204233-100204234	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558050872	chr5:100204249-100204250	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111413721	chr5:100204267-100204268	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2059197	chr5:100204271-100204272	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557679246	chr5:100204322-100204323	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575957063	chr5:100204351-100204352	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373547987	chr5:100204398-100204399	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs144650615	chr5:100204443-100204444	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs2059198	chr5:100204503-100204504	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs77745098	chr5:100204540-100204541	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540246648	chr5:100204543-100204544	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs73159998	chr5:100204630-100204631	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs531969554	chr5:100204635-100204636	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112881157	chr5:100204687-100204688	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534467012	chr5:100204771-100204772	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186730647	chr5:100204817-100204818	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs142877072	chr5:100204835-100204836	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs529934305	chr5:100204896-100204897	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs548046843	chr5:100204920-100204921	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs574444802	chr5:100204961-100204962	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs534762225	chr5:100204982-100204983	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs547026651	chr5:100205002-100205003	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs151184114	chr5:100205072-100205073	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs541950019	chr5:100205115-100205116	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs539031546	chr5:100205120-100205121	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
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
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:100147600-100218000	Weak transcription	Thymus	Thymus
2	chr5:100177600-100215400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr5:100178200-100218400	Weak transcription	Placenta	Placenta
4	chr5:100191200-100224400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr5:100191200-100225200	Weak transcription	Fetal Lung	lung
6	chr5:100191400-100208200	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr5:100191400-100212200	Weak transcription	HUVEC	blood vessel
8	chr5:100192000-100205800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr5:100192000-100208200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:100194600-100218200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr5:100194800-100208200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr5:100194800-100208600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr5:100195000-100220400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr5:100198000-100208400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr5:100198200-100203600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:100198200-100203600	ZNF genes & repeats	GM12878-XiMat	blood
17	chr5:100199000-100204200	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr5:100199000-100204600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr5:100199000-100205200	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr5:100199000-100205400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr5:100199000-100206000	Weak transcription	Primary B cells from peripheral blood	blood
22	chr5:100199000-100206000	Weak transcription	Primary T cells from cord blood	blood
23	chr5:100199000-100210200	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr5:100199000-100213000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr5:100199200-100205200	Weak transcription	Fetal Thymus	thymus
26	chr5:100199200-100208600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr5:100199800-100203800	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr5:100200200-100220200	Strong transcription	Dnd41	blood
29	chr5:100200200-100234400	Weak transcription	Fetal Brain Male	brain
30	chr5:100201800-100205000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr5:100201800-100205200	Weak transcription	Primary B cells from cord blood	blood
32	chr5:100201800-100215400	Weak transcription	Small Intestine	intestine
33	chr5:100202400-100209400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr5:100202800-100214400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:100203200-100208600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr5:100203400-100204000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
37	chr5:100203600-100203800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr5:100203600-100204200	Weak transcription	GM12878-XiMat	blood
39	chr5:100203800-100209200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr5:100203800-100211600	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr5:100204000-100205200	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr5:100204200-100204600	Strong transcription	GM12878-XiMat	blood
43	chr5:100204200-100212200	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr5:100204400-100218400	Weak transcription	Fetal Brain Female	brain
45	chr5:100204600-100204800	Weak transcription	GM12878-XiMat	blood
46	chr5:100204600-100206600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr5:100204800-100210600	ZNF genes & repeats	GM12878-XiMat	blood
48	chr5:100205000-100209600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr5:100205200-100206000	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr5:100205200-100206800	Strong transcription	Primary B cells from cord blood	blood

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