Variant report

Variant	rs7252570
Chromosome Location	chr19:56799645-56799646
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:56798402..56800517-chr19:56824554..56827552,3	K562	blood:
2	chr19:56797989..56800517-chr19:56824554..56828282,3	K562	blood:
3	chr19:56793005..56795545-chr19:56798620..56800184,2	K562	blood:

Variant related genes	Relation type
ENSG00000267549	Chromatin interaction
ENSG00000200646	Chromatin interaction
ENSG00000131848	Chromatin interaction
ENSG00000267710	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10775568	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11084440	0.86[CEU][hapmap];0.84[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11667369	0.96[CEU][hapmap];0.84[JPT][hapmap];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11670857	0.96[CEU][hapmap];0.84[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11670870	0.96[CEU][hapmap];0.84[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11672079	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11672081	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11672220	0.96[CEU][hapmap];0.84[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11673002	0.83[EUR][1000 genomes]
rs11883295	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]
rs12460523	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12461130	0.85[CEU][hapmap];0.84[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17273365	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2869158	0.96[CEU][hapmap];0.84[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3205192	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57090480	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs57731201	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs58815584	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59503198	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59565427	0.82[EUR][1000 genomes]
rs59820036	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62122532	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62122534	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62122536	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7247765	0.88[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7259945	0.88[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs73069662	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs755058	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs758758	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs758760	0.96[CEU][hapmap];0.84[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8101809	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8103418	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8104291	0.96[CEU][hapmap];0.84[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs965567	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	nsv1058152	chr19:56703368-56805035	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv544093	chr19:56703368-56805035	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	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
10	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
11	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
12	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

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56729200-56803000	Weak transcription	Pancreas	Pancrea
2	chr19:56753000-56809000	Weak transcription	Gastric	stomach
3	chr19:56764600-56804000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr19:56766600-56804200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr19:56770400-56804400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr19:56771400-56817200	Weak transcription	Fetal Brain Male	brain
7	chr19:56771600-56807000	Weak transcription	Right Ventricle	heart
8	chr19:56772800-56807600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr19:56772800-56824200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr19:56773000-56807400	Weak transcription	Esophagus	oesophagus
11	chr19:56775800-56815600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr19:56779600-56820200	Weak transcription	Hela-S3	cervix
13	chr19:56779800-56800000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr19:56779800-56807200	Weak transcription	Left Ventricle	heart
15	chr19:56781400-56804600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr19:56782800-56825200	Weak transcription	Psoas Muscle	Psoas
17	chr19:56783000-56825000	Weak transcription	Stomach Mucosa	stomach
18	chr19:56783200-56804000	Weak transcription	Brain Germinal Matrix	brain
19	chr19:56783200-56805400	Weak transcription	Brain Hippocampus Middle	brain
20	chr19:56785400-56803200	Weak transcription	Stomach Smooth Muscle	stomach
21	chr19:56785400-56823600	Weak transcription	Osteobl	bone
22	chr19:56785600-56805400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr19:56785800-56802800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr19:56785800-56804000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr19:56786200-56804200	Weak transcription	Thymus	Thymus
26	chr19:56786800-56813000	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr19:56788000-56804400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr19:56788200-56824400	Weak transcription	Rectal Smooth Muscle	rectum
29	chr19:56788800-56802400	Weak transcription	Duodenum Mucosa	Duodenum
30	chr19:56788800-56803200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr19:56788800-56804200	Weak transcription	Colonic Mucosa	Colon
32	chr19:56788800-56804200	Weak transcription	HSMM	muscle
33	chr19:56788800-56804400	Weak transcription	Ovary	ovary
34	chr19:56788800-56805800	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr19:56788800-56806000	Weak transcription	Brain Anterior Caudate	brain
36	chr19:56788800-56813000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr19:56789000-56799800	Weak transcription	A549	lung
38	chr19:56789000-56801600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr19:56789000-56802400	Weak transcription	Adipose Nuclei	Adipose
40	chr19:56789000-56803000	Weak transcription	HSMMtube	muscle
41	chr19:56789000-56804000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr19:56789000-56806200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr19:56789000-56817400	Weak transcription	Small Intestine	intestine
44	chr19:56789000-56823800	Weak transcription	Brain Angular Gyrus	brain
45	chr19:56789200-56799800	Weak transcription	Fetal Lung	lung
46	chr19:56789200-56803600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr19:56789200-56804200	Weak transcription	Liver	Liver
48	chr19:56789200-56804800	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr19:56789600-56803000	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr19:56790400-56803400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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