Variant report

Variant	nsv1018001
Chromosome Location	chr5:115640603-115660285
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr5:115644114-115644421	K562	blood:	n/a	n/a
2	CBX3	chr5:115644032-115644480	HCT-116	colon:	n/a	n/a
3	CBX3	chr5:115644136-115644420	K562	blood:	n/a	n/a
4	CEBPB	chr5:115658782-115659034	HepG2	liver:	n/a	chr5:115658862-115658873
5	CEBPB	chr5:115658862-115658938	A549	lung:	n/a	chr5:115658862-115658873
6	CTCF	chr5:115641680-115641830	HepG2	liver:	n/a	chr5:115641778-115641786
7	CTCF	chr5:115641779-115641820	MCF-7	breast:	n/a	n/a
8	CTCF	chr5:115641760-115641910	HCPEpiC	choroid plexus:	n/a	chr5:115641778-115641786
9	FOXA1	chr5:115656191-115656435	T-47D	breast:	n/a	n/a
10	GATA2	chr5:115651119-115651560	HUVEC	blood vessel:	n/a	chr5:115651362-115651378 chr5:115651366-115651373 chr5:115651366-115651373 chr5:115651366-115651373 chr5:115651359-115651380
11	GATA2	chr5:115651184-115651545	SH-SY5Y	brain:	n/a	chr5:115651362-115651378 chr5:115651366-115651373 chr5:115651366-115651373 chr5:115651366-115651373 chr5:115651359-115651380
12	GATA3	chr5:115651319-115651542	SH-SY5Y	brain:	n/a	chr5:115651365-115651373 chr5:115651362-115651378 chr5:115651366-115651373 chr5:115651366-115651373 chr5:115651366-115651373 chr5:115651359-115651380
13	IRF1	chr5:115649058-115649356	K562	blood:	n/a	chr5:115649239-115649260
14	IRF1	chr5:115649203-115649351	K562	blood:	n/a	chr5:115649239-115649260
15	IRF1	chr5:115649043-115649400	K562	blood:	n/a	chr5:115649239-115649260
16	KAP1	chr5:115643998-115644462	K562	blood:	n/a	n/a
17	MAFF	chr5:115657037-115657258	HepG2	liver:	n/a	chr5:115657180-115657198
18	MAFK	chr5:115657039-115657349	HepG2	liver:	n/a	n/a
19	MAFK	chr5:115657042-115657345	IMR90	lung:	n/a	n/a
20	MAFK	chr5:115657095-115657238	HepG2	liver:	n/a	n/a
21	MAZ	chr5:115644303-115644399	GM12878	blood:	n/a	n/a
22	POLR2A	chr5:115650434-115650496	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr5:115646199-115646240	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr5:115650301-115650425	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr5:115655445-115655625	MCF10A-Er-Src	breast:	n/a	n/a
26	PRDM1	chr5:115646843-115647217	Hela-S3	cervix:	n/a	n/a
27	RCOR1	chr5:115651358-115651651	K562	blood:	n/a	n/a
28	SETDB1	chr5:115641315-115641618	U2OS	brain:	n/a	n/a
29	SETDB1	chr5:115643970-115644443	U2OS	brain:	n/a	n/a
30	STAT3	chr5:115646605-115646733	MCF10A-Er-Src	breast:	n/a	n/a
31	STAT3	chr5:115655231-115655260	MCF10A-Er-Src	breast:	n/a	n/a
32	TRIM28	chr5:115644119-115644475	K562	blood:	n/a	n/a
33	USF2	chr5:115642808-115642878	HepG2	liver:	n/a	n/a
34	ZNF143	chr5:115644250-115644307	GM12878	blood:	n/a	n/a
35	ZNF143	chr5:115653886-115653900	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:115647669..115649812-chr5:115683571..115685304,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LVRN.1-4	chr5:115643332-115643482	NONHSAT103359
2	lnc-LVRN.1-4	chr5:115641553-115642622	NONHSAT103359

Variant related genes	Relation type
ENSG00000250015	TF binding region

Extended variants
information (count: 930 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:930 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17139457	chr5:115640603-115640604	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs148359520	chr5:115640616-115640617	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs375208406	chr5:115640632-115640633	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs528019770	chr5:115640633-115640634	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541337334	chr5:115640657-115640658	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561198452	chr5:115640669-115640670	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs530250998	chr5:115640684-115640685	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573048472	chr5:115640688-115640689	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs111732613	chr5:115640689-115640690	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192392663	chr5:115640714-115640715	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs367844719	chr5:115640735-115640736	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562637081	chr5:115640773-115640774	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs371822562	chr5:115640784-115640785	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs1677395	chr5:115640805-115640806	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs1644268	chr5:115640808-115640809	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs571251862	chr5:115640814-115640815	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533728036	chr5:115640822-115640823	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs201361930	chr5:115640825-115640826	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs547737786	chr5:115640833-115640834	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553380409	chr5:115640841-115640842	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536483546	chr5:115640859-115640860	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs556066068	chr5:115640861-115640862	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs576528036	chr5:115640915-115640916	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs142746158	chr5:115640960-115640961	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs558588193	chr5:115640965-115640966	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs184544238	chr5:115641015-115641016	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs540997850	chr5:115641063-115641064	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs254154	chr5:115641109-115641110	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs189052994	chr5:115641117-115641118	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs537313641	chr5:115641119-115641120	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs556537700	chr5:115641120-115641121	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs192637251	chr5:115641130-115641131	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs563724943	chr5:115641141-115641142	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs184900816	chr5:115641153-115641154	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs75268976	chr5:115641183-115641184	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531473582	chr5:115641186-115641187	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs188506747	chr5:115641201-115641202	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs75622884	chr5:115641205-115641206	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs80344953	chr5:115641206-115641207	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs78029790	chr5:115641211-115641212	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs76768088	chr5:115641212-115641213	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs181693642	chr5:115641224-115641225	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs147390330	chr5:115641226-115641227	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs74625872	chr5:115641227-115641228	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs79729502	chr5:115641228-115641229	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs79652076	chr5:115641229-115641230	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs75455531	chr5:115641230-115641231	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs76250716	chr5:115641232-115641233	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs77513462	chr5:115641234-115641235	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs79715897	chr5:115641235-115641236	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
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
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
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Sezary syndrome	18413736	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:632 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115613400-115641600	Weak transcription	HSMM	muscle
2	chr5:115625600-115643000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr5:115626600-115641600	Weak transcription	Fetal Brain Male	brain
4	chr5:115626800-115642200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr5:115628000-115643800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr5:115628400-115641200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:115628600-115643400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr5:115629000-115643800	Weak transcription	HUVEC	blood vessel
9	chr5:115631800-115641800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr5:115632000-115643000	Weak transcription	NH-A	brain
11	chr5:115632600-115643400	Weak transcription	Stomach Mucosa	stomach
12	chr5:115632800-115642600	Weak transcription	NHDF-Ad	bronchial
13	chr5:115633200-115640800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:115634200-115640800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr5:115634200-115640800	Weak transcription	Psoas Muscle	Psoas
16	chr5:115634200-115641400	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr5:115634200-115641800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr5:115634200-115641800	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr5:115634200-115642200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr5:115634200-115643600	Weak transcription	HepG2	liver
21	chr5:115634200-115664400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr5:115634400-115641800	Strong transcription	Brain Substantia Nigra	brain
23	chr5:115634400-115645600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr5:115634600-115640800	Strong transcription	Primary B cells from cord blood	blood
25	chr5:115634600-115641600	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr5:115634800-115641200	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr5:115635400-115642400	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr5:115635400-115642600	Strong transcription	Left Ventricle	heart
29	chr5:115635400-115643600	Strong transcription	Fetal Intestine Large	intestine
30	chr5:115635600-115641600	Weak transcription	Brain Germinal Matrix	brain
31	chr5:115635800-115641400	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr5:115636200-115643600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr5:115636800-115640800	Strong transcription	Fetal Muscle Trunk	muscle
34	chr5:115637000-115640800	Weak transcription	Fetal Kidney	kidney
35	chr5:115637600-115643400	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr5:115637600-115643800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr5:115637800-115642400	Enhancers	Liver	Liver
38	chr5:115637800-115642800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr5:115638000-115640800	Strong transcription	Duodenum Mucosa	Duodenum
40	chr5:115638200-115642600	Strong transcription	Skeletal Muscle Female	skeletal muscle
41	chr5:115638200-115642800	Strong transcription	Pancreas	Pancrea
42	chr5:115638400-115643000	Strong transcription	Right Ventricle	heart
43	chr5:115638400-115643400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr5:115638400-115644000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr5:115638600-115641400	Weak transcription	Fetal Thymus	thymus
46	chr5:115638800-115643400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr5:115639000-115640800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr5:115639000-115644400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr5:115639200-115640800	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr5:115639200-115640800	Strong transcription	Colonic Mucosa	Colon

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