Variant report

Variant	rs1760921
Chromosome Location	chr14:20818131-20818132
allele	A/G
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	chr14:20817909-20818232	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:20818052..20820048-chr14:20820385..20822938,2	K562	blood:
2	chr14:20810396..20814723-chr14:20817267..20820679,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254846	TF binding region
PARP2	TF binding region
ENSG00000259001	Chromatin interaction
ENSG00000129484	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1713411	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1713412	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1713413	0.90[YRI][hapmap]
rs1713430	0.90[YRI][hapmap]
rs1713432	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1713433	0.93[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs17242578	1.00[CHB][hapmap]
rs1760914	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1760915	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1760916	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1760917	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1760920	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1760924	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1760925	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2249141	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2459920	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2678681	0.96[ASN][1000 genomes]
rs2678684	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2781367	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3093873	0.89[AFR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35217486	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57336845	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6575167	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs7140961	0.92[CHB][hapmap]
rs7149338	0.83[EUR][1000 genomes]
rs7153417	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];0.87[GIH][hapmap];0.83[EUR][1000 genomes]
rs7159947	0.90[YRI][hapmap]
rs8020840	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs878156	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[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	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	chr14:20812200-20822600	Weak transcription	Pancreas	Pancrea
4	chr14:20812200-20824000	Weak transcription	Aorta	Aorta
5	chr14:20812200-20825400	Weak transcription	Esophagus	oesophagus
6	chr14:20812400-20820400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr14:20812400-20824400	Weak transcription	Stomach Mucosa	stomach
8	chr14:20812400-20880200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr14:20812600-20820200	Weak transcription	Colonic Mucosa	Colon
10	chr14:20812600-20820600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr14:20812600-20820600	Weak transcription	Psoas Muscle	Psoas
12	chr14:20812600-20820600	Weak transcription	Right Ventricle	heart
13	chr14:20812600-20820800	Weak transcription	NHDF-Ad	bronchial
14	chr14:20812600-20822200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr14:20812600-20824400	Weak transcription	Fetal Heart	heart
16	chr14:20812600-20831800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr14:20812600-20834600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr14:20812600-20841000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr14:20812600-20845600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr14:20812800-20818400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr14:20812800-20820600	Weak transcription	NHLF	lung
22	chr14:20812800-20824000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr14:20813000-20827000	Strong transcription	Fetal Muscle Trunk	muscle
24	chr14:20813000-20827800	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr14:20813000-20827800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr14:20813000-20830800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr14:20813200-20819800	Strong transcription	Fetal Kidney	kidney
28	chr14:20813200-20820800	Weak transcription	Fetal Brain Male	brain
29	chr14:20813200-20821600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr14:20813200-20824400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr14:20813200-20824400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr14:20813200-20825800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr14:20813200-20825800	Strong transcription	Fetal Stomach	stomach
34	chr14:20813200-20826200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr14:20813200-20826600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr14:20813200-20826800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr14:20813200-20827000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr14:20813200-20827000	Strong transcription	Skeletal Muscle Male	skeletal muscle
39	chr14:20813200-20827400	Strong transcription	Skeletal Muscle Female	skeletal muscle
40	chr14:20813200-20827600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr14:20813200-20827600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr14:20813200-20827800	Strong transcription	Fetal Intestine Large	intestine
43	chr14:20813200-20827800	Strong transcription	Placenta	Placenta
44	chr14:20813200-20828000	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr14:20813200-20828400	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr14:20813200-20829400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr14:20813200-20831600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr14:20813200-20869200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr14:20813400-20819400	Strong transcription	Stomach Smooth Muscle	stomach
50	chr14:20813400-20820600	Strong transcription	A549	lung

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