Variant report

Variant	rs2571161
Chromosome Location	chr19:44951997-44951998
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44644669..44647100-chr19:44951741..44953337,2	K562	blood:
2	chr19:44699013..44701606-chr19:44950381..44952368,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000263002	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs2466416	0.88[ASN][1000 genomes]
rs2571158	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2571159	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2571162	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2571163	1.00[ASN][1000 genomes]
rs2571164	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2571166	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2571169	1.00[ASN][1000 genomes]
rs2571170	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2571174	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2722693	0.97[ASN][1000 genomes]
rs2722697	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2722699	1.00[ASN][1000 genomes]
rs2722700	1.00[ASN][1000 genomes]
rs2722701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2722702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2734453	0.97[ASN][1000 genomes]
rs2734457	0.97[ASN][1000 genomes]
rs4802224	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912112	chr19:44853707-45011727	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv912114	chr19:44858776-45002563	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv1061350	chr19:44869075-45035469	Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers 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	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44932000-44953200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
2	chr19:44936400-44952000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr19:44942600-44952000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr19:44944400-44952200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
5	chr19:44944600-44952200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
6	chr19:44946400-44953000	ZNF genes & repeats	Aorta	Aorta
7	chr19:44948200-44959800	ZNF genes & repeats	Liver	Liver
8	chr19:44948400-44952200	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
9	chr19:44948600-44953200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
10	chr19:44949600-44954200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
11	chr19:44950000-44952000	ZNF genes & repeats	Fetal Muscle Trunk	muscle
12	chr19:44951000-44952200	ZNF genes & repeats	Fetal Muscle Leg	muscle
13	chr19:44951200-44952200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
14	chr19:44951200-44953200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr19:44951400-44952000	ZNF genes & repeats	Primary B cells from cord blood	blood
16	chr19:44951400-44952000	ZNF genes & repeats	Brain Cingulate Gyrus	brain
17	chr19:44951400-44952000	Active TSS	Fetal Brain Male	brain
18	chr19:44951400-44952200	Flanking Active TSS	NHEK	skin
19	chr19:44951400-44953200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr19:44951400-44953400	Active TSS	NHDF-Ad	bronchial
21	chr19:44951600-44952000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr19:44951600-44952000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr19:44951600-44952000	ZNF genes & repeats	Fetal Intestine Small	intestine
24	chr19:44951600-44952200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr19:44951600-44952200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
26	chr19:44951600-44952200	Flanking Active TSS	Osteobl	bone
27	chr19:44951600-44952400	Flanking Active TSS	Brain Anterior Caudate	brain
28	chr19:44951600-44953000	Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr19:44951600-44953000	Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr19:44951600-44953000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr19:44951600-44953000	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
32	chr19:44951600-44953000	Active TSS	Brain Angular Gyrus	brain
33	chr19:44951600-44953000	ZNF genes & repeats	HSMM	muscle
34	chr19:44951600-44953200	Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr19:44951600-44953200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr19:44951800-44952000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr19:44951800-44952000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr19:44951800-44952000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr19:44951800-44952000	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr19:44951800-44952000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr19:44951800-44952000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr19:44951800-44952000	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr19:44951800-44952000	Flanking Active TSS	Brain Hippocampus Middle	brain
44	chr19:44951800-44952000	Flanking Active TSS	Fetal Kidney	kidney
45	chr19:44951800-44952000	Flanking Active TSS	Fetal Stomach	stomach
46	chr19:44951800-44952000	Enhancers	Fetal Thymus	thymus
47	chr19:44951800-44952000	Enhancers	Gastric	stomach
48	chr19:44951800-44952000	Active TSS	Ovary	ovary
49	chr19:44951800-44952000	Active TSS	Right Ventricle	heart
50	chr19:44951800-44952000	Active TSS	Skeletal Muscle Female	skeletal muscle

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