Variant report

Variant	nsv968976
Chromosome Location	chr5:112227463-112229210
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:183)
Chromatin interactive
region (count:4)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:112229142-112229621	GM12892	blood:	n/a	n/a
2	POLR2A	chr5:112229156-112229186	MCF-7	breast:	n/a	n/a
3	POLR2A	chr5:112227415-112227648	HepG2	liver:	n/a	n/a
4	POLR2A	chr5:112228548-112228731	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr5:112228269-112228294	HepG2	liver:	n/a	n/a
6	POLR2A	chr5:112227828-112227840	GM12878	blood:	n/a	n/a
7	POLR2A	chr5:112227347-112227481	GM12878	blood:	n/a	n/a
8	POLR2A	chr5:112229192-112229203	MCF-7	breast:	n/a	n/a
9	POLR2A	chr5:112227969-112228047	GM12878	blood:	n/a	n/a
10	POLR2A	chr5:112228187-112228321	ProgFib	skin:	n/a	n/a
11	POLR2A	chr5:112228041-112228051	MCF-7	breast:	n/a	n/a
12	POLR2A	chr5:112228094-112228259	HepG2	liver:	n/a	n/a
13	POLR2A	chr5:112227995-112228040	MCF-7	breast:	n/a	n/a
14	POLR2A	chr5:112227224-112227505	PFSK-1	brain:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:112228461-112228511	MCF-7	breast:	n/a
2	chr5:112228461-112228511	HCF	heart:	n/a
3	chr5:112228657-112228707	SK-N-SH_RA	brain:	n/a
4	chr5:112228657-112228707	BJ	skin:	n/a
5	chr5:112228594-112228644	SK-N-SH_RA	brain:	n/a
6	chr5:112228461-112228511	NB4	blood:	n/a
7	chr5:112228594-112228644	ProgFib	skin:	n/a
8	chr5:112228461-112228511	Caco-2	colon:	n/a
9	chr5:112228594-112228644	HCT-116	colon:	n/a
10	chr5:112228594-112228644	ovcar-3	ovarian:	n/a
11	chr5:112228657-112228707	NB4	blood:	n/a
12	chr5:112228461-112228511	SK-N-SH	brain:	n/a
13	chr5:112228657-112228707	NHDF-neo	bronchial:	n/a
14	chr5:112228657-112228707	PANC-1	pancreas:	n/a
15	chr5:112228461-112228511	T-47D	breast:	n/a
16	chr5:112228461-112228511	HMEC	breast:	n/a
17	chr5:112228594-112228644	NB4	blood:	n/a
18	chr5:112228657-112228707	SK-N-SH	brain:	n/a
19	chr5:112228657-112228707	HNPCEpiC	eye:	n/a
20	chr5:112228461-112228511	PFSK-1	brain:	n/a
21	chr5:112228657-112228707	BE2_C	brain:	n/a
22	chr5:112228594-112228644	Hepatocyte	liver:	n/a
23	chr5:112228657-112228707	Jurkat	blood:	n/a
24	chr5:112228594-112228644	Hela-S3	cervix:	n/a
25	chr5:112228594-112228644	ECC-1	luminal epithelium:	n/a
26	chr5:112228657-112228707	HMEC	breast:	n/a
27	chr5:112228594-112228644	RPTEC	kidney:	n/a
28	chr5:112228461-112228511	GM12878	blood:	n/a
29	chr5:112228594-112228644	GM12891	blood:	n/a
30	chr5:112228461-112228511	HAEpiC	amniotic membrane:	n/a
31	chr5:112228461-112228511	HRCEpiC	kidney:	n/a
32	chr5:112228461-112228511	RPTEC	kidney:	n/a
33	chr5:112228461-112228511	ProgFib	skin:	n/a
34	chr5:112228594-112228644	HPAEpiC	pulmonary alveolar:	n/a
35	chr5:112228657-112228707	HPAEpiC	pulmonary alveolar:	n/a
36	chr5:112228461-112228511	H1-hESC	embryonic stem cell:	embryo
37	chr5:112228657-112228707	AG10803	skin:	n/a
38	chr5:112228594-112228644	HepG2	liver:	n/a
39	chr5:112228594-112228644	AG09309	skin:	n/a
40	chr5:112228594-112228644	HRE	kidney:	n/a
41	chr5:112228461-112228511	HUVEC	blood vessel:	n/a
42	chr5:112228657-112228707	T-47D	breast:	n/a
43	chr5:112228657-112228707	HEEpiC	esophagus:	n/a
44	chr5:112228657-112228707	GM12891	blood:	n/a
45	chr5:112228461-112228511	U87	brain:	n/a
46	chr5:112228657-112228707	ECC-1	luminal epithelium:	n/a
47	chr5:112228461-112228511	NT2-D1	testis:	n/a
48	chr5:112228657-112228707	HCM	heart:	n/a
49	chr5:112228657-112228707	GM12878	blood:	n/a
50	chr5:112228461-112228511	HEEpiC	esophagus:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:112225010..112227732-chr5:112311163..112313003,2	K562	blood:
2	chr5:112229105..112231564-chr5:112256009..112258074,2	K562	blood:
3	chr5:112223765..112227904-chr5:112256681..112259724,3	K562	blood:
4	chr5:112196670..112199465-chr5:112228539..112231018,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZRSR1-1	chr5:112229030-112229698	ENSG00000270067.1

No data

Variant related genes	Relation type
ENSG00000272389	TF binding region
ENSG00000270067	TF binding region
ENSG00000272389	CpG island
ENSG00000270067	CpG island
ENSG00000129625	chromatin interactions
ENSG00000172795	chromatin interactions
ENSG00000153037	chromatin interactions
ENSG00000272869	chromatin interactions

Extended variants
information (count: 98 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370697422	chr5:112227480-112227481	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs368243392	chr5:112227506-112227507	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs542437180	chr5:112227509-112227510	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs60088629	chr5:112227522-112227523	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs56303301	chr5:112227538-112227539	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs560904413	chr5:112227565-112227566	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs531618958	chr5:112227571-112227572	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs550072734	chr5:112227635-112227636	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs116824915	chr5:112227636-112227637	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs538839279	chr5:112227699-112227700	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs563712600	chr5:112227702-112227703	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs551539844	chr5:112227767-112227768	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs531248504	chr5:112227798-112227799	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs712665	chr5:112227799-112227800	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs534068387	chr5:112227824-112227825	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs377229917	chr5:112227828-112227829	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs573726695	chr5:112227837-112227838	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs538127313	chr5:112227860-112227861	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs61995948	chr5:112227864-112227865	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs371589323	chr5:112227866-112227867	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs578080478	chr5:112227888-112227889	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs545585712	chr5:112227916-112227917	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs141868335	chr5:112227919-112227920	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs712666	chr5:112227939-112227940	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs572159454	chr5:112227968-112227969	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546611568	chr5:112227975-112227976	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs199946572	chr5:112227994-112227995	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs61741889	chr5:112227997-112227998	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs535521257	chr5:112227998-112227999	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs560842182	chr5:112228002-112228003	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs550786485	chr5:112228017-112228018	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs191227399	chr5:112228031-112228032	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs549770313	chr5:112228054-112228055	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs183342096	chr5:112228087-112228088	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs532350113	chr5:112228115-112228116	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs186311090	chr5:112228141-112228142	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs201107809	chr5:112228161-112228162	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs146170662	chr5:112228178-112228179	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs534008453	chr5:112228202-112228203	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs61995949	chr5:112228212-112228213	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs568926188	chr5:112228216-112228217	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs567287547	chr5:112228225-112228226	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs374367256	chr5:112228247-112228248	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs191887893	chr5:112228268-112228269	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs183322512	chr5:112228281-112228282	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs201888227	chr5:112228286-112228287	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs574112568	chr5:112228307-112228308	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs539002159	chr5:112228313-112228314	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs554389447	chr5:112228315-112228316	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs572704298	chr5:112228337-112228338	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	16272173	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
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Colorectal cancer	21297112	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Sezary syndrome	18413736	CNVD
Cancer	17440070	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:195 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112200600-112242000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:112206400-112242800	Weak transcription	Fetal Brain Male	brain
3	chr5:112209800-112238600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:112210800-112232400	Strong transcription	Primary B cells from peripheral blood	blood
5	chr5:112211200-112240000	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr5:112211600-112256400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr5:112211800-112239200	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr5:112212200-112256400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr5:112212600-112251400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr5:112213200-112229400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr5:112214200-112232200	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr5:112214800-112234800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr5:112215200-112255800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr5:112215800-112240400	Strong transcription	Primary B cells from cord blood	blood
15	chr5:112215800-112247200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr5:112219800-112232200	Strong transcription	Fetal Intestine Small	intestine
17	chr5:112221400-112237800	Weak transcription	Small Intestine	intestine
18	chr5:112221800-112231400	Weak transcription	Psoas Muscle	Psoas
19	chr5:112221800-112231800	Weak transcription	Stomach Mucosa	stomach
20	chr5:112221800-112256600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:112222000-112231400	Weak transcription	Hela-S3	cervix
22	chr5:112222000-112233800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr5:112222000-112256400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr5:112222200-112229200	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr5:112222200-112231200	Weak transcription	Colon Smooth Muscle	Colon
26	chr5:112222800-112229200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr5:112222800-112229600	Weak transcription	Fetal Heart	heart
28	chr5:112222800-112231600	Weak transcription	Fetal Kidney	kidney
29	chr5:112222800-112239000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr5:112223000-112227600	Weak transcription	Brain Hippocampus Middle	brain
31	chr5:112223000-112227800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr5:112223000-112227800	Weak transcription	Esophagus	oesophagus
33	chr5:112223000-112228000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr5:112223000-112228000	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr5:112223000-112228000	Weak transcription	NHLF	lung
36	chr5:112223000-112228200	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr5:112223000-112228200	Weak transcription	Lung	lung
38	chr5:112223000-112229200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr5:112223000-112229200	Weak transcription	Brain Angular Gyrus	brain
40	chr5:112223000-112229200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr5:112223000-112231000	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr5:112223000-112231200	Weak transcription	Brain Substantia Nigra	brain
43	chr5:112223000-112231200	Weak transcription	HUVEC	blood vessel
44	chr5:112223000-112231400	Weak transcription	HSMMtube	muscle
45	chr5:112223000-112233600	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr5:112223000-112233800	Weak transcription	Primary hematopoietic stem cells	blood
47	chr5:112223000-112234200	Weak transcription	Aorta	Aorta
48	chr5:112223000-112234400	Weak transcription	Ovary	ovary
49	chr5:112223000-112235800	Weak transcription	K562	blood
50	chr5:112223000-112240800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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