Variant report

Variant	rs1889361
Chromosome Location	chr14:20797836-20797837
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	POLR2A	chr14:20795120-20798793	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr14:20797699-20798199	HepG2	liver:	n/a	chr14:20798035-20798046
4	CEBPB	chr14:20797747-20798122	IMR90	lung:	n/a	chr14:20798035-20798046
5	CEBPB	chr14:20797795-20798194	H1-hESC	embryonic stem cell:	n/a	chr14:20798035-20798046
6	POLR2A	chr14:20797760-20797840	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:20795171..20799091-chr14:20799468..20802404,5	MCF-7	breast:

Variant related genes	Relation type
SNORD126	TF binding region
CCNB1IP1	TF binding region
ENSG00000100814	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1000608	0.85[ASN][1000 genomes]
rs1132644	0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11845291	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11848535	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12588213	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12889262	0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12890140	0.85[ASN][1000 genomes]
rs1953549	0.83[ASN][1000 genomes]
rs1953552	0.85[ASN][1000 genomes]
rs2001572	0.88[ASN][1000 genomes]
rs2781366	0.81[EUR][1000 genomes]
rs28500547	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3784244	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4451865	0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4981975	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6575132	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6575164	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7160770	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:20774200-20800400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr14:20774200-20800400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr14:20774200-20800400	Weak transcription	Fetal Brain Male	brain
4	chr14:20774200-20800400	Weak transcription	Stomach Mucosa	stomach
5	chr14:20774200-20800600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr14:20774200-20800800	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr14:20774200-20800800	Weak transcription	Small Intestine	intestine
8	chr14:20778800-20798600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr14:20779400-20798000	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr14:20779400-20799000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:20779600-20798200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
12	chr14:20781800-20798600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr14:20782600-20800800	Weak transcription	Esophagus	oesophagus
14	chr14:20784800-20799200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr14:20785800-20800400	Weak transcription	Brain Hippocampus Middle	brain
16	chr14:20786200-20799000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr14:20786200-20800600	Weak transcription	Aorta	Aorta
18	chr14:20786200-20800600	Weak transcription	Colonic Mucosa	Colon
19	chr14:20786400-20800800	Weak transcription	Pancreas	Pancrea
20	chr14:20787400-20798800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr14:20787400-20800800	Weak transcription	Gastric	stomach
22	chr14:20787600-20800400	Weak transcription	Brain Germinal Matrix	brain
23	chr14:20790000-20800800	Weak transcription	Spleen	Spleen
24	chr14:20790600-20800800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr14:20793000-20800600	Weak transcription	Primary T cells from cord blood	blood
26	chr14:20793200-20799200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr14:20793200-20799600	Weak transcription	Brain Anterior Caudate	brain
28	chr14:20793200-20800200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr14:20793200-20800600	Weak transcription	Thymus	Thymus
30	chr14:20793200-20800800	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr14:20793400-20800400	Weak transcription	Fetal Intestine Small	intestine
32	chr14:20793400-20800400	Weak transcription	Fetal Stomach	stomach
33	chr14:20793800-20800400	Weak transcription	Psoas Muscle	Psoas
34	chr14:20793800-20800600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr14:20793800-20800600	Weak transcription	Fetal Muscle Leg	muscle
36	chr14:20793800-20800600	Weak transcription	Lung	lung
37	chr14:20793800-20800600	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr14:20793800-20800800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr14:20794800-20798200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr14:20794800-20800400	Weak transcription	Primary hematopoietic stem cells	blood
41	chr14:20794800-20800400	Weak transcription	Brain Substantia Nigra	brain
42	chr14:20794800-20800400	Weak transcription	Fetal Brain Female	brain
43	chr14:20794800-20800400	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr14:20794800-20800600	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr14:20794800-20800600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr14:20794800-20800600	Weak transcription	Placenta	Placenta
47	chr14:20795000-20798200	Genic enhancers	Dnd41	blood
48	chr14:20795000-20798600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr14:20795000-20800400	Weak transcription	Adipose Nuclei	Adipose
50	chr14:20795000-20800400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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