Variant report

Variant	rs3093904
Chromosome Location	chr14:20819112-20819113
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr14:20819080-20819230	GM12874	blood:	n/a	n/a
2	SMC3	chr14:20819047-20819341	HepG2	liver:	n/a	n/a
3	RAD21	chr14:20819076-20819352	HepG2	liver:	n/a	n/a
4	CTCF	chr14:20819049-20819395	GM12878	blood:	n/a	n/a
5	CTCF	chr14:20818984-20819373	MCF-7	breast:	n/a	n/a
6	CTCF	chr14:20819068-20819290	HepG2	liver:	n/a	n/a
7	CTCF	chr14:20819079-20819342	K562	blood:	n/a	n/a
8	CTCF	chr14:20819104-20819337	MCF-7	breast:	n/a	n/a
9	CTCF	chr14:20818936-20819403	A549	lung:	n/a	n/a
10	SMC3	chr14:20819098-20819352	Hela-S3	cervix:	n/a	n/a
11	RAD21	chr14:20819072-20819334	HepG2	liver:	n/a	n/a
12	RAD21	chr14:20819056-20819360	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr14:20819060-20819210	NHDF-neo	bronchial:	n/a	n/a
14	RAD21	chr14:20819058-20819305	SK-N-SH_RA	brain:	n/a	n/a
15	CTCF	chr14:20819079-20819346	IMR90	lung:	n/a	n/a
16	CTCF	chr14:20819060-20819210	RPTEC	kidney:	n/a	n/a
17	RAD21	chr14:20819097-20819329	IMR90	lung:	n/a	n/a
18	RAD21	chr14:20818997-20819296	HepG2	liver:	n/a	n/a
19	CTCF	chr14:20819100-20819250	GM12873	blood:	n/a	n/a
20	CTCF	chr14:20819080-20819230	AG04450	lung:	n/a	n/a
21	CTCF	chr14:20819080-20819230	HRPEpiC	eye:	n/a	n/a
22	RAD21	chr14:20819086-20819384	SK-N-SH_RA	brain:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

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:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-APEX1-5	chr14:20818858-20819281	NONHSAT035571

No data

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

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10129957	0.90[CEU][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10130660	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10147163	0.90[CEU][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10148359	0.90[CEU][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11622655	0.87[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12323412	0.87[EUR][1000 genomes]
rs12323610	0.90[EUR][1000 genomes]
rs12891805	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1889362	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2104977	1.00[YRI][hapmap]
rs2297616	1.00[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2700	0.90[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs3093882	0.90[CEU][hapmap];0.85[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3093890	1.00[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3093897	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3093900	0.96[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs3093902	0.88[CEU][hapmap];0.83[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3093907	0.92[CHB][hapmap];0.93[JPT][hapmap];0.96[ASN][1000 genomes]
rs3093909	0.96[ASN][1000 genomes]
rs3093933	0.95[CEU][hapmap];0.85[CHB][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3093939	0.90[CEU][hapmap];1.00[YRI][hapmap]
rs3093940	1.00[YRI][hapmap]
rs3093942	0.89[CEU][hapmap];0.88[AMR][1000 genomes]
rs34848586	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4415933	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4981150	0.90[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4981153	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4981158	0.90[CEU][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4981957	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4981983	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4981998	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57101853	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58530849	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59821173	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6575124	0.90[CEU][hapmap];0.87[EUR][1000 genomes]
rs6575135	0.90[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7152084	0.87[EUR][1000 genomes]
rs7155699	0.80[JPT][hapmap];0.81[EUR][1000 genomes]
rs7161611	0.90[CEU][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8009242	0.84[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8014147	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8022565	0.90[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8022671	0.82[EUR][1000 genomes]
rs878157	0.90[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs884368	0.90[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9323870	0.94[EUR][1000 genomes];0.91[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	chr14:20812800-20820600	Weak transcription	NHLF	lung
21	chr14:20812800-20824000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr14:20813000-20827000	Strong transcription	Fetal Muscle Trunk	muscle
23	chr14:20813000-20827800	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr14:20813000-20827800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr14:20813000-20830800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr14:20813200-20819800	Strong transcription	Fetal Kidney	kidney
27	chr14:20813200-20820800	Weak transcription	Fetal Brain Male	brain
28	chr14:20813200-20821600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr14:20813200-20824400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr14:20813200-20824400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr14:20813200-20825800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr14:20813200-20825800	Strong transcription	Fetal Stomach	stomach
33	chr14:20813200-20826200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr14:20813200-20826600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr14:20813200-20826800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr14:20813200-20827000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr14:20813200-20827000	Strong transcription	Skeletal Muscle Male	skeletal muscle
38	chr14:20813200-20827400	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr14:20813200-20827600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr14:20813200-20827600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr14:20813200-20827800	Strong transcription	Fetal Intestine Large	intestine
42	chr14:20813200-20827800	Strong transcription	Placenta	Placenta
43	chr14:20813200-20828000	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr14:20813200-20828400	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr14:20813200-20829400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr14:20813200-20831600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr14:20813200-20869200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr14:20813400-20819400	Strong transcription	Stomach Smooth Muscle	stomach
49	chr14:20813400-20820600	Strong transcription	A549	lung
50	chr14:20813400-20826000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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