Variant report

Variant	esv3470639
Chromosome Location	chr5:112222353-112227151
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:112222854-112222855	ProgFib	skin:	n/a	n/a
2	POLR2A	chr5:112222418-112222780	U87	brain:	n/a	n/a
3	POLR2A	chr5:112222564-112223335	K562	blood:	n/a	n/a
4	POLR2A	chr5:112224482-112224503	Gliobla	brain:	n/a	n/a
5	POLR2A	chr5:112222838-112222922	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr5:112224046-112224209	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr5:112222696-112222929	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr5:112224462-112224500	MCF-7	breast:	n/a	n/a
9	POLR2A	chr5:112222807-112222816	ProgFib	skin:	n/a	n/a
10	POLR2A	chr5:112224675-112224734	GM12878	blood:	n/a	n/a
11	POLR2A	chr5:112222718-112222791	ProgFib	skin:	n/a	n/a
12	POLR2A	chr5:112222691-112222910	HepG2	liver:	n/a	n/a
13	POLR2A	chr5:112225870-112225936	MCF-7	breast:	n/a	n/a
14	POLR2A	chr5:112222679-112222877	HepG2	liver:	n/a	n/a
15	POLR2A	chr5:112224495-112224498	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr5:112224593-112224595	MCF-7	breast:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:112223124..112224717-chr5:112225573..112227485,2	MCF-7	breast:
2	chr5:112221269..112223827-chr5:112227698..112230274,2	K562	blood:
3	chr5:112211665..112213695-chr5:112223485..112225532,2	K562	blood:
4	chr5:112225010..112227732-chr5:112311163..112313003,2	K562	blood:
5	chr5:112223765..112227904-chr5:112256681..112259724,3	K562	blood:
6	chr5:112220653..112223281-chr5:112223773..112226525,3	K562	blood:
7	chr5:112199613..112201992-chr5:112222873..112225577,2	K562	blood:
8	chr5:112220061..112222153-chr5:112223773..112225820,2	K562	blood:

No data

Variant related genes	Relation type
ZRSR1	TF binding region
ENSG00000270067	TF binding region
ENSG00000153037	chromatin interactions
ENSG00000249947	chromatin interactions
ENSG00000212643	chromatin interactions
ENSG00000129625	chromatin interactions
ENSG00000172795	chromatin interactions
ENSG00000270067	chromatin interactions

Extended variants
information (count: 196 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:196 , 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	rs564705964	chr5:112222398-112222399	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs544189427	chr5:112222406-112222407	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs532156826	chr5:112222425-112222426	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs181591991	chr5:112222457-112222458	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs536564877	chr5:112222461-112222462	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs138872094	chr5:112222465-112222466	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs529803622	chr5:112222487-112222488	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs74743339	chr5:112222541-112222542	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs185803852	chr5:112222559-112222560	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs537930418	chr5:112222581-112222582	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs370296608	chr5:112222622-112222623	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs549888757	chr5:112222659-112222660	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs376613004	chr5:112222681-112222682	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs560721915	chr5:112222684-112222685	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs712662	chr5:112222694-112222695	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs539036527	chr5:112222706-112222707	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs200322705	chr5:112222737-112222738	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs148266473	chr5:112222755-112222756	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs554126287	chr5:112222759-112222760	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs572698646	chr5:112222761-112222762	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs112567344	chr5:112222780-112222781	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs34083474	chr5:112222787-112222788	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs199535089	chr5:112222788-112222789	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs150399682	chr5:112222808-112222809	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs138223212	chr5:112222816-112222817	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs190214713	chr5:112222835-112222836	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs377043779	chr5:112222884-112222885	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs371922102	chr5:112222908-112222909	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs543516148	chr5:112222961-112222962	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs565007577	chr5:112223036-112223037	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs558698620	chr5:112223045-112223046	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs576724538	chr5:112223067-112223068	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs541023485	chr5:112223083-112223084	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs559131632	chr5:112223086-112223087	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs529927884	chr5:112223108-112223109	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs181333233	chr5:112223132-112223133	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs563119285	chr5:112223168-112223169	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs530638284	chr5:112223258-112223259	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs75310047	chr5:112223279-112223280	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs17135108	chr5:112223350-112223351	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs186110959	chr5:112223357-112223358	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs547763444	chr5:112223361-112223362	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs191057243	chr5:112223394-112223395	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs536926138	chr5:112223419-112223420	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs182350455	chr5:112223422-112223423	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs189131965	chr5:112223453-112223454	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs570231252	chr5:112223593-112223594	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs712663	chr5:112223594-112223595	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs712664	chr5:112223601-112223602	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs576868368	chr5:112223615-112223616	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

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

Chromatin state (count:314 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112199000-112226000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:112200600-112242000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:112206400-112242800	Weak transcription	Fetal Brain Male	brain
4	chr5:112208200-112225800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:112209600-112225000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:112209600-112226400	Strong transcription	Fetal Muscle Trunk	muscle
7	chr5:112209600-112226800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:112209800-112224600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:112209800-112238600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:112210600-112225000	Strong transcription	Liver	Liver
11	chr5:112210800-112225000	Strong transcription	Duodenum Mucosa	Duodenum
12	chr5:112210800-112232400	Strong transcription	Primary B cells from peripheral blood	blood
13	chr5:112211200-112222600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr5:112211200-112240000	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr5:112211600-112256400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr5:112211800-112223400	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr5:112211800-112239200	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr5:112212200-112256400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr5:112212400-112225200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr5:112212400-112225400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:112212600-112251400	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr5:112213000-112223000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr5:112213000-112223200	Strong transcription	Fetal Lung	lung
24	chr5:112213000-112223200	Strong transcription	Stomach Smooth Muscle	stomach
25	chr5:112213000-112224600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr5:112213200-112222800	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr5:112213200-112223200	Strong transcription	Brain Germinal Matrix	brain
28	chr5:112213200-112223400	Strong transcription	Adipose Nuclei	Adipose
29	chr5:112213200-112223400	Strong transcription	Fetal Brain Female	brain
30	chr5:112213200-112229400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr5:112213600-112223000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr5:112213800-112225000	Strong transcription	Fetal Intestine Large	intestine
33	chr5:112214000-112223400	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr5:112214000-112224400	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr5:112214200-112232200	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr5:112214800-112223400	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr5:112214800-112223400	Strong transcription	Fetal Thymus	thymus
38	chr5:112214800-112226600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr5:112214800-112234800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr5:112215000-112223000	Strong transcription	Fetal Stomach	stomach
41	chr5:112215200-112223000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr5:112215200-112224800	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr5:112215200-112255800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr5:112215400-112222600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr5:112215400-112223000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr5:112215400-112223200	Strong transcription	HMEC	breast
47	chr5:112215400-112223400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr5:112215400-112223400	Strong transcription	Placenta	Placenta
49	chr5:112215800-112222800	Strong transcription	Esophagus	oesophagus
50	chr5:112215800-112223000	Strong transcription	Spleen	Spleen

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