Variant report

Variant	rs912113
Chromosome Location	chr20:1342187-1342188
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr20:1342064-1342697	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr20:1341854-1342697	PANC-1	pancreas:	n/a	n/a
3	POLR2A	chr20:1342103-1342686	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr20:1342181-1342565	PFSK-1	brain:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:1304778..1307427-chr20:1340796..1343484,2	MCF-7	breast:
2	chr20:1321853..1323904-chr20:1339528..1342244,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SNPH-2	chr20:1341701-1342621	NONHSAT078102

No data

Variant related genes	Relation type
ENSG00000229728	TF binding region
ENSG00000234684	Chromatin interaction
ENSG00000125775	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10485824	1.00[CHB][hapmap]
rs11697322	1.00[CHB][hapmap]
rs11697395	1.00[CHB][hapmap]
rs11699494	1.00[CHB][hapmap]
rs1294688	1.00[JPT][hapmap]
rs13163	1.00[CHB][hapmap]
rs16994239	1.00[CHB][hapmap]
rs16994549	1.00[CHB][hapmap]
rs16995146	1.00[CHB][hapmap]
rs17793560	1.00[CHB][hapmap]
rs17794135	1.00[CHB][hapmap]
rs1883933	1.00[CHB][hapmap]
rs1884390	1.00[CHB][hapmap]
rs2064645	1.00[CHB][hapmap]
rs2064646	1.00[CHB][hapmap]
rs2249832	1.00[CHB][hapmap]
rs2250091	1.00[CHB][hapmap]
rs2256095	1.00[CHB][hapmap]
rs2256229	1.00[CHB][hapmap]
rs2256240	1.00[CHB][hapmap]
rs2256243	1.00[CHB][hapmap]
rs2256250	1.00[CHB][hapmap]
rs2256251	1.00[CHB][hapmap]
rs2263656	1.00[CHB][hapmap]
rs2873522	1.00[CHB][hapmap]
rs4577347	1.00[CHB][hapmap]
rs4813115	1.00[CHB][hapmap]
rs4814102	1.00[CHB][hapmap]
rs6033534	1.00[CHB][hapmap]
rs6033554	1.00[CHB][hapmap]
rs6033660	1.00[CHB][hapmap]
rs6033871	1.00[CHB][hapmap]
rs6033896	1.00[CHB][hapmap]
rs6033914	1.00[CHB][hapmap]
rs6033935	1.00[CHB][hapmap]
rs6041689	1.00[CHB][hapmap]
rs6041703	0.85[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6041716	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6041717	1.00[CHB][hapmap]
rs6042506	1.00[CHB][hapmap]
rs6042550	1.00[CHB][hapmap]
rs6042568	1.00[CHB][hapmap]
rs6042574	1.00[CHB][hapmap]
rs6042578	1.00[CHB][hapmap]
rs6042585	1.00[CHB][hapmap]
rs6042588	1.00[CHB][hapmap]
rs6042676	1.00[CHB][hapmap]
rs6042689	1.00[CHB][hapmap]
rs6078575	1.00[CHB][hapmap]
rs6078783	0.86[ASN][1000 genomes]
rs6078809	0.80[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6105031	1.00[CHB][hapmap]
rs6105101	1.00[CHB][hapmap]
rs6109437	1.00[CHB][hapmap]
rs6109511	1.00[CHB][hapmap]
rs6109522	1.00[CHB][hapmap]
rs6109740	1.00[CHB][hapmap]
rs6109784	1.00[CHB][hapmap]
rs6109984	1.00[CHB][hapmap]
rs6109989	1.00[CHB][hapmap]
rs6110189	1.00[CHB][hapmap]
rs6110193	1.00[CHB][hapmap]
rs6514337	1.00[CHB][hapmap]
rs6514364	1.00[CHB][hapmap]
rs715217	1.00[CHB][hapmap]
rs7271240	1.00[CHB][hapmap]
rs733232	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs747611	1.00[CHB][hapmap]
rs8117563	1.00[CHB][hapmap]
rs8118276	1.00[CHB][hapmap]
rs912115	0.85[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs912116	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs958839	1.00[CHB][hapmap]
rs9647031	1.00[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522008	chr20:1340390-1638578	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1310000-1348800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr20:1323000-1350600	Weak transcription	Fetal Brain Male	brain
3	chr20:1323400-1354000	Weak transcription	Fetal Heart	heart
4	chr20:1326000-1350600	Weak transcription	Right Atrium	heart
5	chr20:1326800-1348200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr20:1327600-1372200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr20:1331600-1349000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr20:1331600-1358200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr20:1332400-1348400	Weak transcription	Psoas Muscle	Psoas
10	chr20:1332400-1349200	Weak transcription	Colonic Mucosa	Colon
11	chr20:1333200-1349000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr20:1336000-1343000	Weak transcription	Gastric	stomach
13	chr20:1336000-1343800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr20:1336200-1342400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr20:1336200-1342400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr20:1336200-1348000	Weak transcription	Aorta	Aorta
17	chr20:1336200-1348000	Weak transcription	Brain Germinal Matrix	brain
18	chr20:1336200-1348000	Weak transcription	Esophagus	oesophagus
19	chr20:1336200-1350600	Weak transcription	Right Ventricle	heart
20	chr20:1336200-1361800	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr20:1336400-1350600	Weak transcription	Fetal Lung	lung
22	chr20:1336400-1355600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr20:1336400-1370400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr20:1337000-1343000	Strong transcription	HUVEC	blood vessel
25	chr20:1337600-1343000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr20:1337600-1349400	Strong transcription	Fetal Muscle Leg	muscle
27	chr20:1337800-1348000	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr20:1338000-1342800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr20:1338000-1343200	Strong transcription	Dnd41	blood
30	chr20:1338200-1343400	Strong transcription	Liver	Liver
31	chr20:1338200-1344200	Strong transcription	Fetal Intestine Large	intestine
32	chr20:1338200-1344800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr20:1338400-1342400	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr20:1338400-1343400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr20:1338400-1344400	Strong transcription	Primary hematopoietic stem cells	blood
36	chr20:1338400-1345000	Strong transcription	HepG2	liver
37	chr20:1338400-1348000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr20:1338600-1342400	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr20:1338600-1343600	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr20:1338600-1344200	Strong transcription	Duodenum Mucosa	Duodenum
41	chr20:1338600-1344400	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr20:1338600-1345000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr20:1338600-1346400	Strong transcription	NHEK	skin
44	chr20:1338600-1354800	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr20:1338800-1343800	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr20:1338800-1344800	Strong transcription	Stomach Smooth Muscle	stomach
47	chr20:1339000-1342200	Weak transcription	NHLF	lung
48	chr20:1339000-1342600	Strong transcription	HSMM	muscle
49	chr20:1339000-1348800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr20:1339200-1342200	Weak transcription	Fetal Stomach	stomach

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