Variant report

Variant	rs61995540
Chromosome Location	chr14:20795209-20795210
allele	C/T
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	POLR2A	chr14:20794190-20797847	K562	blood:	n/a	n/a
2	CTCF	chr14:20795039-20796064	A549	lung:	n/a	chr14:20795614-20795630 chr14:20795615-20795636 chr14:20795613-20795631
3	POLR2A	chr14:20795120-20798793	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr14:20794590-20796288	HepG2	liver:	n/a	n/a
5	RAD21	chr14:20795175-20796082	SK-N-SH	brain:	n/a	chr14:20795614-20795633 chr14:20795619-20795631 chr14:20795615-20795629 chr14:20795618-20795627
6	POLR2A	chr14:20795100-20795220	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr14:20795027-20796009	SK-N-SH	brain:	n/a	chr14:20795614-20795630 chr14:20795615-20795636 chr14:20795613-20795631
8	POLR2A	chr14:20793024-20797819	K562	blood:	n/a	n/a
9	CTCF	chr14:20795200-20795350	WI-38	lung:	n/a	n/a
10	POLR2A	chr14:20795003-20795232	H1-hESC	embryonic stem cell:	n/a	n/a
11	FOXA1	chr14:20795145-20795745	HepG2	liver:	n/a	n/a
12	ARID3A	chr14:20794949-20795875	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:20793979..20796227-chr14:20937472..20939466,2	MCF-7	breast:
2	chr14:20795157..20796264-chr14:21077188..21078443,7	MCF-7	breast:
3	chr14:20795152..20796094-chr14:21077480..21078141,2	MCF-7	breast:
4	chr14:20793682..20797138-chr14:20936376..20939221,4	K562	blood:
5	chr14:20792855..20795465-chr14:20809576..20811625,4	MCF-7	breast:
6	chr14:20795171..20799091-chr14:20799468..20802404,5	MCF-7	breast:
7	chr14:20795151..20796094-chr14:21158880..21159446,3	K562	blood:

Variant related genes	Relation type
ENSG00000222489	TF binding region
SNORD126	TF binding region
ENSG00000100814	Chromatin interaction
ENSG00000259001	Chromatin interaction
ENSG00000259060	Chromatin interaction
ENSG00000173464	Chromatin interaction
ENSG00000198805	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1953550	1.00[AFR][1000 genomes]
rs2318863	1.00[AFR][1000 genomes]
rs3093868	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs3093871	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs3093883	1.00[AFR][1000 genomes]
rs3093894	1.00[AFR][1000 genomes]
rs3093926	1.00[AFR][1000 genomes]
rs45583431	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs45622542	1.00[AFR][1000 genomes]
rs56383558	1.00[AFR][1000 genomes]
rs61993950	1.00[AFR][1000 genomes]
rs61993951	1.00[AFR][1000 genomes]
rs61993952	1.00[AFR][1000 genomes]
rs61993953	1.00[AFR][1000 genomes]
rs61993956	1.00[AFR][1000 genomes]
rs61993957	1.00[AFR][1000 genomes]
rs61993958	1.00[AFR][1000 genomes]
rs61993959	1.00[AFR][1000 genomes]
rs61995461	1.00[AFR][1000 genomes]
rs61995463	1.00[AFR][1000 genomes]
rs61995494	1.00[AFR][1000 genomes]
rs61995495	1.00[AFR][1000 genomes]
rs61995497	1.00[AFR][1000 genomes]
rs61995498	1.00[AFR][1000 genomes]
rs61995503	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs61995504	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs61995508	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs61995509	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs61995510	0.83[AMR][1000 genomes]
rs61995513	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs61995534	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs61995536	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs61995537	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs61995538	0.88[AMR][1000 genomes]
rs61995542	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs61995544	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs61995545	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs61995546	1.00[AFR][1000 genomes]
rs72671246	1.00[AFR][1000 genomes]
rs72671250	1.00[AFR][1000 genomes]
rs8010392	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043923	chr14:20338742-21336425	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
2	nsv541970	chr14:20338742-21336425	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
3	nsv1037160	chr14:20517485-20901811	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	103 gene(s)	inside rSNPs	diseases
4	nsv541974	chr14:20517485-20901811	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	103 gene(s)	inside rSNPs	diseases
5	esv1806993	chr14:20743269-20841162	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription 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	71 gene(s)	inside rSNPs	diseases
6	nsv534131	chr14:20757405-20886235	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases
7	nsv1042025	chr14:20787961-20817851	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	71 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	chr14:20774200-20795400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr14:20774200-20795600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr14:20774200-20795600	Weak transcription	Fetal Heart	heart
4	chr14:20774200-20800400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr14:20774200-20800400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr14:20774200-20800400	Weak transcription	Fetal Brain Male	brain
7	chr14:20774200-20800400	Weak transcription	Stomach Mucosa	stomach
8	chr14:20774200-20800600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr14:20774200-20800800	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr14:20774200-20800800	Weak transcription	Small Intestine	intestine
11	chr14:20778800-20798600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr14:20779000-20795600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr14:20779400-20795400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr14:20779400-20797000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr14:20779400-20797200	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr14:20779400-20797800	Strong transcription	H1 Cell Line	embryonic stem cell
17	chr14:20779400-20798000	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr14:20779400-20799000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:20779600-20795400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
20	chr14:20779600-20795400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr14:20779600-20795600	Strong transcription	NH-A	brain
22	chr14:20779600-20798200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr14:20780000-20795400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr14:20780200-20795400	Strong transcription	HUVEC	blood vessel
25	chr14:20780400-20795400	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr14:20781000-20795400	Weak transcription	Brain Angular Gyrus	brain
27	chr14:20781800-20795400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr14:20781800-20798600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr14:20782000-20796800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr14:20782600-20800800	Weak transcription	Esophagus	oesophagus
31	chr14:20784800-20799200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr14:20785800-20800400	Weak transcription	Brain Hippocampus Middle	brain
33	chr14:20786200-20799000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr14:20786200-20800600	Weak transcription	Aorta	Aorta
35	chr14:20786200-20800600	Weak transcription	Colonic Mucosa	Colon
36	chr14:20786400-20800800	Weak transcription	Pancreas	Pancrea
37	chr14:20787400-20796800	Weak transcription	Ovary	ovary
38	chr14:20787400-20798800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr14:20787400-20800800	Weak transcription	Gastric	stomach
40	chr14:20787600-20800400	Weak transcription	Brain Germinal Matrix	brain
41	chr14:20789600-20795600	Strong transcription	K562	blood
42	chr14:20789800-20795600	Strong transcription	HMEC	breast
43	chr14:20790000-20800800	Weak transcription	Spleen	Spleen
44	chr14:20790600-20800800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr14:20791200-20795400	Strong transcription	Fetal Thymus	thymus
46	chr14:20791200-20795400	Strong transcription	Hela-S3	cervix
47	chr14:20791400-20795400	Strong transcription	Fetal Muscle Trunk	muscle
48	chr14:20792200-20795400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
49	chr14:20792200-20795600	Strong transcription	NHEK	skin
50	chr14:20792600-20795400	Strong transcription	Rectal Mucosa Donor 29	rectum

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