Variant report

Variant	rs61995546
Chromosome Location	chr14:20814753-20814754
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:20808270..20815666-chr14:20919802..20926735,19	MCF-7	breast:
2	chr14:20813295..20814813-chr14:20857034..20859149,2	MCF-7	breast:
3	chr14:20814045..20815717-chr14:20936287..20939086,2	K562	blood:
4	chr14:20811638..20813233-chr14:20813576..20815950,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCNB1IP1-2	chr14:20814724-20815047	ENSG00000254846.1

Variant related genes	Relation type
ENSG00000259001	Chromatin interaction
ENSG00000198805	Chromatin interaction
ENSG00000100823	Chromatin interaction
ENSG00000092094	Chromatin interaction
ENSG00000129484	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1953550	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2318863	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3093868	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3093871	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3093878	0.88[EUR][1000 genomes]
rs3093883	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3093894	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3093926	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45583431	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs45622542	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56383558	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs58959974	1.00[ASN][1000 genomes]
rs60052229	1.00[ASN][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];1.00[ASN][1000 genomes]
rs61993959	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61995461	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61995462	1.00[ASN][1000 genomes]
rs61995463	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61995493	1.00[ASN][1000 genomes]
rs61995494	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61995495	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61995497	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61995498	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61995500	1.00[ASN][1000 genomes]
rs61995503	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61995504	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61995508	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61995509	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61995513	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995534	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995536	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995537	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995538	0.80[EUR][1000 genomes]
rs61995540	1.00[AFR][1000 genomes]
rs61995542	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995544	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995545	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671246	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72671250	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73585150	1.00[ASN][1000 genomes]
rs8010392	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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
8	esv21015	chr14:20800765-21257878	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:20812000-20820600	Weak transcription	Spleen	Spleen
2	chr14:20812000-20822600	Weak transcription	Gastric	stomach
3	chr14:20812200-20815200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr14:20812200-20815200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr14:20812200-20815800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr14:20812200-20817800	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr14:20812200-20822600	Weak transcription	Pancreas	Pancrea
8	chr14:20812200-20824000	Weak transcription	Aorta	Aorta
9	chr14:20812200-20825400	Weak transcription	Esophagus	oesophagus
10	chr14:20812400-20815200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr14:20812400-20815200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr14:20812400-20815800	Weak transcription	Small Intestine	intestine
13	chr14:20812400-20816000	Weak transcription	Thymus	Thymus
14	chr14:20812400-20818000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr14:20812400-20820400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr14:20812400-20824400	Weak transcription	Stomach Mucosa	stomach
17	chr14:20812400-20880200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr14:20812600-20814800	Weak transcription	Primary hematopoietic stem cells	blood
19	chr14:20812600-20815000	Weak transcription	Primary B cells from peripheral blood	blood
20	chr14:20812600-20815200	Weak transcription	Brain Substantia Nigra	brain
21	chr14:20812600-20815600	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr14:20812600-20816000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr14:20812600-20816000	Weak transcription	Colon Smooth Muscle	Colon
24	chr14:20812600-20816600	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr14:20812600-20817000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr14:20812600-20817200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr14:20812600-20817200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr14:20812600-20817200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr14:20812600-20817600	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr14:20812600-20817800	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr14:20812600-20817800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr14:20812600-20817800	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr14:20812600-20818000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr14:20812600-20820200	Weak transcription	Colonic Mucosa	Colon
35	chr14:20812600-20820600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr14:20812600-20820600	Weak transcription	Psoas Muscle	Psoas
37	chr14:20812600-20820600	Weak transcription	Right Ventricle	heart
38	chr14:20812600-20820800	Weak transcription	NHDF-Ad	bronchial
39	chr14:20812600-20822200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr14:20812600-20824400	Weak transcription	Fetal Heart	heart
41	chr14:20812600-20831800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr14:20812600-20834600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr14:20812600-20841000	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr14:20812600-20845600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr14:20812800-20814800	Weak transcription	GM12878-XiMat	blood
46	chr14:20812800-20815200	Weak transcription	Osteobl	bone
47	chr14:20812800-20818400	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr14:20812800-20820600	Weak transcription	NHLF	lung
49	chr14:20812800-20824000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr14:20813000-20827000	Strong transcription	Fetal Muscle Trunk	muscle

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