Variant report

Variant	rs72210300
Chromosome Location	chr14:78172448-78172449
allele	-/TA
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:78170877..78172859-chr14:78173007..78174927,2	K562	blood:
2	chr14:78169975..78173523-chr14:78173651..78176580,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000119705	Chromatin interaction
ENSG00000100601	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10136053	0.82[ASN][1000 genomes]
rs1048147	0.81[ASN][1000 genomes]
rs10483885	0.82[ASN][1000 genomes]
rs11159288	0.82[ASN][1000 genomes]
rs11628888	0.81[ASN][1000 genomes]
rs12887282	0.86[ASN][1000 genomes]
rs12887606	0.86[ASN][1000 genomes]
rs13379065	0.81[ASN][1000 genomes]
rs1477261	0.81[ASN][1000 genomes]
rs1549119	0.81[ASN][1000 genomes]
rs17106157	0.81[ASN][1000 genomes]
rs176941	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs176943	0.87[ASN][1000 genomes]
rs176944	0.87[ASN][1000 genomes]
rs176946	0.87[ASN][1000 genomes]
rs176948	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs176951	0.87[ASN][1000 genomes]
rs176952	0.87[ASN][1000 genomes]
rs176953	0.83[ASN][1000 genomes]
rs176954	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs176955	0.87[ASN][1000 genomes]
rs176956	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs176959	0.93[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs176960	0.87[ASN][1000 genomes]
rs176962	0.86[ASN][1000 genomes]
rs176963	0.93[AFR][1000 genomes]
rs176964	0.93[AFR][1000 genomes]
rs176965	0.86[AFR][1000 genomes]
rs176966	0.83[ASN][1000 genomes]
rs176968	0.93[AFR][1000 genomes]
rs176969	0.93[AFR][1000 genomes]
rs176970	0.93[AFR][1000 genomes]
rs176971	0.86[ASN][1000 genomes]
rs176973	0.81[ASN][1000 genomes]
rs176975	0.91[AFR][1000 genomes]
rs176976	0.91[AFR][1000 genomes]
rs176979	0.86[ASN][1000 genomes]
rs176980	0.86[ASN][1000 genomes]
rs1984925	0.81[ASN][1000 genomes]
rs2032781	0.82[ASN][1000 genomes]
rs2267758	0.81[ASN][1000 genomes]
rs2267759	0.81[ASN][1000 genomes]
rs2267760	0.81[ASN][1000 genomes]
rs2267761	0.81[ASN][1000 genomes]
rs2267766	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2267767	0.84[ASN][1000 genomes]
rs2267768	0.82[ASN][1000 genomes]
rs2284233	0.81[ASN][1000 genomes]
rs2284234	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2284235	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2299930	0.89[ASN][1000 genomes]
rs2364584	0.82[ASN][1000 genomes]
rs2544567	0.84[ASN][1000 genomes]
rs28534379	0.88[ASN][1000 genomes]
rs28603114	0.89[ASN][1000 genomes]
rs35204328	0.81[ASN][1000 genomes]
rs3783980	0.81[ASN][1000 genomes]
rs3783983	0.81[ASN][1000 genomes]
rs4383070	0.86[ASN][1000 genomes]
rs4899673	0.82[ASN][1000 genomes]
rs55909252	0.88[ASN][1000 genomes]
rs56017708	0.88[ASN][1000 genomes]
rs56412551	0.81[ASN][1000 genomes]
rs57635466	0.86[ASN][1000 genomes]
rs61993668	0.88[ASN][1000 genomes]
rs6574388	0.82[ASN][1000 genomes]
rs6574391	0.84[ASN][1000 genomes]
rs7143926	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7147516	0.82[ASN][1000 genomes]
rs7151211	0.82[ASN][1000 genomes]
rs72685264	0.82[ASN][1000 genomes]
rs8003691	0.82[ASN][1000 genomes]
rs8003979	0.82[ASN][1000 genomes]
rs8016175	0.82[ASN][1000 genomes]
rs8016447	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758362	chr14:78074180-78262572	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	esv2759998	chr14:78074180-78262572	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	esv2757575	chr14:78104897-78212462	Strong transcription Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv34940	chr14:78104897-78222798	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv521287	chr14:78108003-78211225	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv520021	chr14:78152921-78208294	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78127400-78173200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:78140600-78173200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:78154400-78172600	Weak transcription	Small Intestine	intestine
4	chr14:78158600-78172800	Weak transcription	NHDF-Ad	bronchial
5	chr14:78163800-78172600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr14:78163800-78172600	Weak transcription	HMEC	breast
7	chr14:78163800-78173400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr14:78163800-78173400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr14:78163800-78173400	Weak transcription	Right Ventricle	heart
10	chr14:78164000-78173000	Weak transcription	HSMMtube	muscle
11	chr14:78164000-78173400	Weak transcription	Aorta	Aorta
12	chr14:78165800-78172600	Weak transcription	Fetal Heart	heart
13	chr14:78166400-78172800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr14:78168000-78172800	Weak transcription	Psoas Muscle	Psoas
15	chr14:78169000-78173000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr14:78169200-78172800	Weak transcription	HUVEC	blood vessel
17	chr14:78169600-78173400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr14:78169800-78172800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr14:78169800-78172800	Weak transcription	Brain Germinal Matrix	brain
20	chr14:78170600-78173200	Weak transcription	Colonic Mucosa	Colon
21	chr14:78170800-78172600	Weak transcription	Colon Smooth Muscle	Colon
22	chr14:78170800-78172800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr14:78170800-78173200	Weak transcription	Gastric	stomach
24	chr14:78170800-78173400	Weak transcription	Pancreas	Pancrea
25	chr14:78171000-78172600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr14:78171000-78172600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr14:78171000-78172600	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr14:78171000-78172600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr14:78171000-78172600	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr14:78171000-78172600	Weak transcription	Stomach Smooth Muscle	stomach
31	chr14:78171000-78172800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr14:78171000-78172800	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr14:78171000-78172800	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr14:78171000-78172800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr14:78171000-78172800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr14:78171000-78172800	Weak transcription	Fetal Brain Male	brain
37	chr14:78171000-78172800	Weak transcription	Fetal Kidney	kidney
38	chr14:78171000-78173400	Weak transcription	Esophagus	oesophagus
39	chr14:78171200-78172600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr14:78171200-78172600	Weak transcription	Primary B cells from cord blood	blood
41	chr14:78171200-78172600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr14:78171200-78172600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr14:78171200-78172600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr14:78171200-78172600	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr14:78171200-78172600	Weak transcription	Brain Cingulate Gyrus	brain
46	chr14:78171200-78172600	Weak transcription	Fetal Lung	lung
47	chr14:78171200-78172600	Weak transcription	Rectal Smooth Muscle	rectum
48	chr14:78171200-78172600	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr14:78171200-78172600	Weak transcription	K562	blood
50	chr14:78171200-78172800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links