Variant report

Variant	rs2615614
Chromosome Location	chr19:42807809-42807810
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr19:42805649-42807906	A549	lung:	n/a	n/a
2	FOSL2	chr19:42805723-42807877	A549	lung:	n/a	chr19:42806960-42806969 chr19:42806957-42806966 chr19:42806238-42806247 chr19:42807421-42807430 chr19:42806959-42806968
3	JUND	chr19:42805813-42808231	SK-N-SH	brain:	n/a	chr19:42806960-42806969 chr19:42806957-42806966 chr19:42806238-42806247 chr19:42807421-42807430 chr19:42806959-42806968
4	MYC	chr19:42805632-42808445	A549	lung:	n/a	chr19:42807332-42807341 chr19:42806957-42806967

No data

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

No.	Distal block	Cell Line	Cell type
1	chr19:42806642..42809220-chr19:42829976..42831705,2	K562	blood:
2	chr19:42720843..42724936-chr19:42805318..42808035,4	MCF-7	breast:
3	chr19:42579835..42581809-chr19:42805426..42808329,2	K562	blood:
4	chr19:42805304..42808319-chr19:42899510..42903078,3	K562	blood:
5	chr19:42745670..42748955-chr19:42805967..42808847,6	K562	blood:
6	chr19:42771398..42774307-chr19:42804493..42807877,4	MCF-7	breast:
7	chr19:42746221..42749028-chr19:42806673..42809269,4	K562	blood:
8	chr19:42804082..42810862-chr19:42813351..42818872,10	K562	blood:
9	chr19:42757990..42761273-chr19:42805380..42807935,4	MCF-7	breast:
10	chr19:42756858..42760226-chr19:42804706..42807905,7	K562	blood:
11	chr19:42806459..42808702-chr19:42827247..42830028,2	K562	blood:
12	chr19:42786948..42794333-chr19:42803465..42809501,23	K562	blood:
13	chr19:42787763..42791073-chr19:42804241..42808628,6	MCF-7	breast:
14	chr19:42804822..42808346-chr19:42815036..42819132,8	MCF-7	breast:
15	chr19:42757687..42760394-chr19:42806453..42809186,2	MCF-7	breast:
16	chr19:42745110..42750037-chr19:42804255..42809210,7	MCF-7	breast:
17	chr19:42804664..42808164-chr19:42828676..42831528,3	MCF-7	breast:
18	chr19:42722916..42725353-chr19:42805921..42808141,2	K562	blood:
19	chr19:42783298..42787362-chr19:42802681..42808039,8	MCF-7	breast:
20	chr19:42387685..42389812-chr19:42806888..42808559,2	K562	blood:
21	chr19:42804981..42810862-chr19:42813585..42819261,9	K562	blood:
22	chr19:42771105..42773106-chr19:42805155..42808634,5	K562	blood:

No data

Variant related genes	Relation type
PRR19	TF binding region
PAFAH1B3	TF binding region
ENSG00000076928	Chromatin interaction
ENSG00000268643	Chromatin interaction
ENSG00000105723	Chromatin interaction
ENSG00000079432	Chromatin interaction
ENSG00000204957	Chromatin interaction
ENSG00000160570	Chromatin interaction
ENSG00000105732	Chromatin interaction
ENSG00000105722	Chromatin interaction
ENSG00000167619	Chromatin interaction
ENSG00000213904	Chromatin interaction
ENSG00000105429	Chromatin interaction
ENSG00000167625	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10410185	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10410198	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10410698	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10412833	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10426306	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10426310	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11557114	0.82[ASN][1000 genomes]
rs11878620	0.82[CHB][hapmap];0.82[ASN][1000 genomes]
rs11880124	0.82[CHB][hapmap]
rs11882654	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11883412	0.82[CHB][hapmap]
rs1206009	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.91[LWK][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1206027	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];0.91[LWK][hapmap];0.90[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1206028	1.00[ASW][hapmap];0.85[GIH][hapmap];0.91[LWK][hapmap];0.91[MEX][hapmap];0.96[MKK][hapmap];0.85[TSI][hapmap];0.95[YRI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1206029	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];0.80[MEX][hapmap];0.94[TSI][hapmap];0.89[EUR][1000 genomes]
rs1206031	0.89[EUR][1000 genomes]
rs1206033	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];0.89[MEX][hapmap];0.89[TSI][hapmap];0.86[EUR][1000 genomes]
rs1206035	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1206038	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];0.88[LWK][hapmap];0.91[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1206040	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[YRI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1206041	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];0.88[LWK][hapmap];0.91[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1206042	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1206043	0.87[EUR][1000 genomes]
rs1206044	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[YRI][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1209280	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1211265	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13346991	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1613100	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];0.87[LWK][hapmap];0.91[MEX][hapmap];0.96[MKK][hapmap];0.94[TSI][hapmap];0.95[YRI][hapmap];0.91[EUR][1000 genomes]
rs1654623	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];0.90[LWK][hapmap];0.91[MEX][hapmap];0.96[MKK][hapmap];0.94[TSI][hapmap];0.95[YRI][hapmap];0.91[EUR][1000 genomes]
rs1676211	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];0.88[LWK][hapmap];0.91[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1676213	0.91[EUR][1000 genomes]
rs1676214	0.86[EUR][1000 genomes]
rs1676215	0.91[EUR][1000 genomes]
rs1676217	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[LWK][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1676220	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1676221	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1676222	1.00[CHB][hapmap]
rs1685565	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes]
rs16975684	0.82[CHB][hapmap]
rs2267630	1.00[CHB][hapmap]
rs2302485	0.82[CHB][hapmap];0.82[ASN][1000 genomes]
rs2303652	0.82[CHB][hapmap]
rs2537697	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28537976	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28621009	1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs34922891	0.89[EUR][1000 genomes]
rs35493131	0.82[ASN][1000 genomes]
rs35557987	0.89[EUR][1000 genomes]
rs3745231	0.82[CHB][hapmap]
rs3745233	0.82[CHB][hapmap]
rs3810148	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.80[MEX][hapmap];0.94[TSI][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3810151	0.82[CHB][hapmap]
rs4141062	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs57938324	0.90[ASN][1000 genomes]
rs61995685	0.89[EUR][1000 genomes]
rs7248379	0.82[CHB][hapmap]
rs7255956	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7258795	0.90[ASN][1000 genomes]
rs7260287	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73552881	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73552895	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs741070	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8182491	0.82[CHB][hapmap]
rs851292	0.89[EUR][1000 genomes]
rs851293	0.89[EUR][1000 genomes]
rs851296	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];0.87[LWK][hapmap];0.91[MEX][hapmap];0.96[MKK][hapmap];0.94[TSI][hapmap];0.89[YRI][hapmap];0.91[EUR][1000 genomes]
rs851612	0.86[ASN][1000 genomes]
rs851615	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs862228	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs865436	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9636121	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.89[GIH][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[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	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv520239	chr19:42357455-42931004	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv911782	chr19:42514712-42931004	Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
4	nsv1055554	chr19:42619671-42821642	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
5	nsv526186	chr19:42676481-43203507	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
6	esv2422471	chr19:42733141-43669485	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
7	nsv833834	chr19:42736444-42835027	Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	42 gene(s)	inside rSNPs	diseases
8	nsv911785	chr19:42741124-42917545	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42806000-42808000	Active TSS	Rectal Smooth Muscle	rectum
2	chr19:42806800-42808000	Enhancers	Spleen	Spleen
3	chr19:42807000-42808000	Enhancers	Sigmoid Colon	Sigmoid Colon
4	chr19:42807200-42808000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr19:42807200-42808000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr19:42807200-42808000	Enhancers	Psoas Muscle	Psoas
7	chr19:42807200-42808000	Enhancers	NHDF-Ad	bronchial
8	chr19:42807200-42808200	Enhancers	HepG2	liver
9	chr19:42807200-42817200	Weak transcription	Right Atrium	heart
10	chr19:42807400-42808000	Enhancers	H1 Cell Line	embryonic stem cell
11	chr19:42807400-42808000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr19:42807400-42808000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr19:42807400-42808000	Enhancers	Primary T cells from cord blood	blood
14	chr19:42807400-42808000	Enhancers	Primary T cells fromperipheralblood	blood
15	chr19:42807400-42808000	Enhancers	Primary hematopoietic stem cells	blood
16	chr19:42807400-42808000	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr19:42807400-42808000	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr19:42807400-42808000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr19:42807400-42808000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr19:42807400-42808000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr19:42807400-42808000	Flanking Active TSS	Fetal Brain Female	brain
22	chr19:42807400-42808000	Enhancers	Fetal Muscle Leg	muscle
23	chr19:42807400-42808000	Enhancers	Fetal Thymus	thymus
24	chr19:42807400-42808000	Enhancers	NHLF	lung
25	chr19:42807400-42808200	Enhancers	Primary B cells from peripheral blood	blood
26	chr19:42807400-42808200	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr19:42807600-42808000	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr19:42807600-42808000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr19:42807600-42808000	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr19:42807600-42808000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr19:42807600-42808000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr19:42807600-42808000	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr19:42807600-42808000	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr19:42807600-42808000	Enhancers	Fetal Intestine Large	intestine
35	chr19:42807600-42808000	Enhancers	Placenta Amnion	Placenta Amnion
36	chr19:42807600-42808000	Enhancers	Dnd41	blood
37	chr19:42807600-42808200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr19:42807600-42808200	Enhancers	Fetal Kidney	kidney
39	chr19:42807600-42808200	Weak transcription	Gastric	stomach
40	chr19:42807600-42808200	Enhancers	A549	lung
41	chr19:42807600-42808400	Enhancers	Fetal Muscle Trunk	muscle
42	chr19:42807600-42810800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr19:42807600-42811000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr19:42807600-42814600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr19:42807800-42808000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr19:42807800-42808000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr19:42807800-42808000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr19:42807800-42808000	Enhancers	Fetal Brain Male	brain
49	chr19:42807800-42808000	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr19:42807800-42808000	Enhancers	Skeletal Muscle Female	skeletal muscle

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