Variant report

Variant	rs45497695
Chromosome Location	chr19:40826964-40826965
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:40825864..40828845-chr19:40848574..40850485,2	K562	blood:

Variant related genes	Relation type
ENSG00000160392	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11666690	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11666860	0.90[EUR][1000 genomes]
rs11667443	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11667768	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11667774	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11668006	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11668520	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11669006	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11669332	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11670323	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11670860	0.82[EUR][1000 genomes]
rs11670912	0.85[EUR][1000 genomes]
rs11671439	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17846842	0.81[EUR][1000 genomes]
rs2356230	0.87[EUR][1000 genomes]
rs28746190	0.81[EUR][1000 genomes]
rs35090721	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3730052	0.82[EUR][1000 genomes]
rs3730055	0.81[EUR][1000 genomes]
rs41275746	0.83[EUR][1000 genomes]
rs41275748	0.81[EUR][1000 genomes]
rs41275750	0.83[EUR][1000 genomes]
rs56672337	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58094119	0.83[EUR][1000 genomes]
rs59058760	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59106111	0.92[EUR][1000 genomes]
rs6508937	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs66623822	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67587726	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7245751	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7247515	0.83[EUR][1000 genomes]
rs7249819	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7252506	0.87[EUR][1000 genomes]
rs73933225	0.83[EUR][1000 genomes]
rs73933232	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73933236	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73933237	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73933238	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73933240	0.93[EUR][1000 genomes]
rs73933241	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8105478	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs873143	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs874269	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv2758499	chr19:40612420-40839520	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Enhancers 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 miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv2758761	chr19:40612420-40839520	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	esv1833489	chr19:40722123-40923908	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	esv3386713	chr19:40794161-40828617	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv833831	chr19:40796740-40960865	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer 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 miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40802800-40828000	Weak transcription	NH-A	brain
2	chr19:40810600-40829800	Weak transcription	NHDF-Ad	bronchial
3	chr19:40811800-40831600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr19:40815400-40832800	Weak transcription	Fetal Brain Male	brain
5	chr19:40817400-40827400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr19:40817600-40827200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr19:40819200-40834000	Weak transcription	Fetal Kidney	kidney
8	chr19:40819400-40828200	Weak transcription	Osteobl	bone
9	chr19:40820000-40827400	Weak transcription	HepG2	liver
10	chr19:40820600-40827400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr19:40820800-40848400	Strong transcription	Dnd41	blood
12	chr19:40821200-40831800	Weak transcription	K562	blood
13	chr19:40821400-40827200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr19:40821400-40827800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr19:40821400-40835000	Strong transcription	Fetal Intestine Small	intestine
16	chr19:40821400-40846000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr19:40821800-40829000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr19:40822000-40829200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr19:40822000-40833400	Weak transcription	Fetal Heart	heart
20	chr19:40822000-40842400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr19:40822000-40843400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr19:40822000-40851000	Strong transcription	Fetal Stomach	stomach
23	chr19:40822200-40828000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr19:40822200-40828600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr19:40822200-40842400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr19:40822200-40842600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr19:40822200-40843200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr19:40822200-40845400	Strong transcription	Fetal Muscle Leg	muscle
29	chr19:40822400-40846200	Strong transcription	Fetal Muscle Trunk	muscle
30	chr19:40822600-40828200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr19:40823400-40842400	Strong transcription	Fetal Brain Female	brain
32	chr19:40823400-40845400	Strong transcription	Thymus	Thymus
33	chr19:40824000-40839400	Strong transcription	NHLF	lung
34	chr19:40824000-40842200	Strong transcription	Liver	Liver
35	chr19:40824000-40842400	Strong transcription	Brain Germinal Matrix	brain
36	chr19:40824000-40842600	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr19:40824200-40828200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr19:40824200-40828600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr19:40824200-40846400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr19:40824200-40848600	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr19:40824200-40849600	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr19:40824400-40828800	Strong transcription	Placenta Amnion	Placenta Amnion
43	chr19:40824400-40843000	Strong transcription	Fetal Thymus	thymus
44	chr19:40824600-40827200	Weak transcription	Rectal Smooth Muscle	rectum
45	chr19:40824800-40827000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr19:40825000-40827600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr19:40825000-40827600	Weak transcription	GM12878-XiMat	blood
48	chr19:40825200-40836800	Weak transcription	Stomach Mucosa	stomach
49	chr19:40825200-40842800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr19:40825400-40842600	Strong transcription	Duodenum Mucosa	Duodenum

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