Variant report

Variant	rs58038045
Chromosome Location	chr19:45604266-45604267
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:45603847..45605776-chr19:45612544..45615012,2	K562	blood:
2	chr19:45576493..45586900-chr19:45588536..45604492,49	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170684	Chromatin interaction
ENSG00000007047	Chromatin interaction
ENSG00000142252	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2079763	1.00[AMR][1000 genomes]
rs34292003	0.82[AFR][1000 genomes]
rs57157368	0.83[AFR][1000 genomes]
rs58260098	1.00[AMR][1000 genomes]
rs58660494	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73560254	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3449420	chr19:45523560-45626884	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv912142	chr19:45570051-45708758	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv833842	chr19:45593888-45684308	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv833843	chr19:45593888-45793682	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45597400-45604600	Enhancers	Placenta	Placenta
2	chr19:45597400-45609400	Enhancers	Stomach Mucosa	stomach
3	chr19:45597600-45606200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:45597600-45609200	Enhancers	Pancreas	Pancrea
5	chr19:45598200-45604400	Enhancers	Gastric	stomach
6	chr19:45598200-45606000	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr19:45598400-45605600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr19:45598400-45606000	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr19:45598400-45606000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr19:45598400-45606000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr19:45598400-45606600	Genic enhancers	Fetal Intestine Small	intestine
12	chr19:45599400-45605800	Weak transcription	Primary B cells from peripheral blood	blood
13	chr19:45599800-45605800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr19:45600000-45604400	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr19:45600000-45606200	Enhancers	Fetal Intestine Large	intestine
16	chr19:45600000-45607800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr19:45600200-45605400	Enhancers	Placenta Amnion	Placenta Amnion
18	chr19:45600400-45604400	Genic enhancers	Fetal Stomach	stomach
19	chr19:45600400-45605000	Weak transcription	GM12878-XiMat	blood
20	chr19:45600800-45607800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr19:45601000-45604600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr19:45601000-45604600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr19:45601400-45604400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr19:45601400-45606200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr19:45601400-45608000	Enhancers	Esophagus	oesophagus
26	chr19:45601400-45608000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr19:45601600-45605600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr19:45601600-45605800	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr19:45601600-45605800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr19:45601600-45606400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr19:45601800-45604800	Enhancers	NH-A	brain
32	chr19:45602000-45604400	Enhancers	HSMM	muscle
33	chr19:45602000-45605600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr19:45602000-45606200	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr19:45602000-45606200	Weak transcription	Rectal Smooth Muscle	rectum
36	chr19:45602000-45612200	Weak transcription	Hela-S3	cervix
37	chr19:45602200-45604600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr19:45602200-45604600	Enhancers	Muscle Satellite Cultured Cells	--
39	chr19:45602200-45605200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr19:45602200-45605600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr19:45602200-45606400	Weak transcription	Colon Smooth Muscle	Colon
42	chr19:45602400-45604400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr19:45602400-45604400	Weak transcription	Adipose Nuclei	Adipose
44	chr19:45602400-45604600	Enhancers	Brain Anterior Caudate	brain
45	chr19:45602400-45604800	Enhancers	NHDF-Ad	bronchial
46	chr19:45602400-45605000	Weak transcription	Primary T cells from cord blood	blood
47	chr19:45602400-45607200	Enhancers	NHLF	lung
48	chr19:45602400-45607600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr19:45602600-45604400	Genic enhancers	Right Ventricle	heart
50	chr19:45602600-45605400	Weak transcription	Primary T helper cells PMA-I stimulated	--

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