Variant report

Variant	rs11883295
Chromosome Location	chr19:56806326-56806327
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	MAFK	chr19:56806021-56806334	HepG2	liver:	n/a	chr19:56806176-56806191
2	MAFK	chr19:56806027-56806334	HepG2	liver:	n/a	chr19:56806176-56806191
3	FOS	chr19:56805872-56806403	MCF10A-Er-Src	breast:	n/a	n/a
4	MAFK	chr19:56806000-56806373	IMR90	lung:	n/a	chr19:56806176-56806191
5	FOS	chr19:56805902-56806542	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000267710	TF binding region

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10775568	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11084440	0.82[CEU][hapmap];0.80[EUR][1000 genomes]
rs11667369	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs11670857	0.93[CEU][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11670870	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11672079	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11672081	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11672220	0.93[CEU][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12460523	0.80[EUR][1000 genomes]
rs12461130	0.89[CEU][hapmap];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17273365	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.88[YRI][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2869158	0.92[CEU][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3205192	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.84[YRI][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57090480	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs57731201	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs58815584	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs59503198	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs59820036	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62122532	0.80[EUR][1000 genomes]
rs62122534	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62122536	0.80[EUR][1000 genomes]
rs7247765	0.94[CHB][hapmap];0.89[JPT][hapmap];0.89[ASN][1000 genomes]
rs7252570	0.96[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.92[YRI][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7259945	0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs73069662	0.80[EUR][1000 genomes]
rs755058	0.80[CEU][hapmap]
rs758758	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs758760	0.93[CEU][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8101809	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8103418	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[YRI][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8104291	0.93[CEU][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064371	chr19:56418215-56842450	ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
2	nsv1057316	chr19:56418215-56849458	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
3	nsv912516	chr19:56601298-56981382	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	93 gene(s)	inside rSNPs	diseases
4	nsv526325	chr19:56741186-56852035	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv949121	chr19:56754719-57591038	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
6	nsv1062341	chr19:56794070-57273332	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
7	nsv544094	chr19:56794070-57273332	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
8	nsv912517	chr19:56794645-56822466	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1056713	chr19:56799151-57265682	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
10	nsv544095	chr19:56799151-57265682	Strong transcription ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
11	nsv1058026	chr19:56799847-56833153	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56753000-56809000	Weak transcription	Gastric	stomach
2	chr19:56771400-56817200	Weak transcription	Fetal Brain Male	brain
3	chr19:56771600-56807000	Weak transcription	Right Ventricle	heart
4	chr19:56772800-56807600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr19:56772800-56824200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr19:56773000-56807400	Weak transcription	Esophagus	oesophagus
7	chr19:56775800-56815600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr19:56779600-56820200	Weak transcription	Hela-S3	cervix
9	chr19:56779800-56807200	Weak transcription	Left Ventricle	heart
10	chr19:56782800-56825200	Weak transcription	Psoas Muscle	Psoas
11	chr19:56783000-56825000	Weak transcription	Stomach Mucosa	stomach
12	chr19:56785400-56823600	Weak transcription	Osteobl	bone
13	chr19:56786800-56813000	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr19:56788200-56824400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr19:56788800-56813000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr19:56789000-56817400	Weak transcription	Small Intestine	intestine
17	chr19:56789000-56823800	Weak transcription	Brain Angular Gyrus	brain
18	chr19:56790600-56820000	Weak transcription	Primary B cells from cord blood	blood
19	chr19:56794000-56813000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr19:56796400-56816600	Weak transcription	Fetal Kidney	kidney
21	chr19:56796600-56813000	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr19:56797600-56811800	Strong transcription	Fetal Stomach	stomach
23	chr19:56798200-56813000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr19:56799800-56825200	Weak transcription	Right Atrium	heart
25	chr19:56800800-56817400	Weak transcription	Fetal Brain Female	brain
26	chr19:56801400-56814800	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr19:56801600-56812800	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr19:56802000-56806400	Strong transcription	Placenta	Placenta
29	chr19:56802200-56810600	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr19:56802400-56807800	Strong transcription	Duodenum Mucosa	Duodenum
31	chr19:56802400-56821800	Weak transcription	Primary B cells from peripheral blood	blood
32	chr19:56802600-56807000	Weak transcription	Aorta	Aorta
33	chr19:56802600-56809400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr19:56802800-56813000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr19:56803000-56807800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr19:56803000-56808200	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr19:56803000-56809400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr19:56803000-56812800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr19:56803000-56813000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr19:56803000-56816600	Weak transcription	Dnd41	blood
41	chr19:56803000-56824200	Weak transcription	Fetal Thymus	thymus
42	chr19:56803200-56807600	Strong transcription	Fetal Lung	lung
43	chr19:56803200-56808000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr19:56803200-56808000	Strong transcription	Fetal Muscle Trunk	muscle
45	chr19:56803200-56808000	Strong transcription	HepG2	liver
46	chr19:56803200-56808200	Strong transcription	Fetal Intestine Large	intestine
47	chr19:56803200-56809400	Strong transcription	Stomach Smooth Muscle	stomach
48	chr19:56803200-56825000	Weak transcription	Colon Smooth Muscle	Colon
49	chr19:56803600-56808200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr19:56803600-56816600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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