Variant report

Variant	rs570420819
Chromosome Location	chr1:169894000-169894001
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:169861783..169864814-chr1:169892837..169895451,3	MCF-7	breast:
2	chr1:169887846..169894353-chr1:169898169..169903456,7	K562	blood:
3	chr1:169885836..169887922-chr1:169893783..169895856,2	MCF-7	breast:
4	chr1:169891530..169894353-chr1:169899147..169901987,3	K562	blood:

Variant related genes	Relation type
ENSG00000000457	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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	esv3451367	chr1:169630075-169976964	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	esv1845220	chr1:169782006-169933886	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv1007190	chr1:169890542-169929582	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv997360	chr1:169892284-169946436	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1015110	chr1:169892661-169929582	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1013271	chr1:169892661-169960549	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169876200-169903600	Weak transcription	Aorta	Aorta
2	chr1:169878400-169895200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr1:169878400-169946200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr1:169878600-169895000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr1:169881400-169901000	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr1:169884200-169913000	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr1:169884600-169895200	Weak transcription	Fetal Intestine Small	intestine
8	chr1:169884600-169900600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:169884600-169900600	Weak transcription	NHDF-Ad	bronchial
10	chr1:169885200-169900800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:169885400-169894000	Weak transcription	Right Ventricle	heart
12	chr1:169885400-169913200	Weak transcription	Ovary	ovary
13	chr1:169885600-169903200	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr1:169885800-169896600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr1:169885800-169898000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr1:169886000-169894000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:169886400-169894600	Weak transcription	Primary B cells from cord blood	blood
18	chr1:169886400-169895200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:169886400-169913000	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr1:169886600-169915600	Weak transcription	Stomach Smooth Muscle	stomach
21	chr1:169887000-169911400	Weak transcription	Left Ventricle	heart
22	chr1:169888800-169894800	Weak transcription	GM12878-XiMat	blood
23	chr1:169888800-169900600	Weak transcription	Fetal Stomach	stomach
24	chr1:169889000-169895200	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr1:169889600-169900600	Weak transcription	Fetal Lung	lung
26	chr1:169889800-169898000	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr1:169890200-169895200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:169890800-169894800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:169890800-169906200	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr1:169891000-169895200	Weak transcription	Primary T cells from cord blood	blood
31	chr1:169891000-169896800	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr1:169891000-169898200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:169891000-169911400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr1:169891000-169913200	Weak transcription	Adipose Nuclei	Adipose
35	chr1:169891200-169894800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr1:169891800-169894200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr1:169892800-169895600	Enhancers	Fetal Heart	heart
38	chr1:169894000-169894200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr1:169894000-169894200	Enhancers	Right Ventricle	heart
40	chr1:169894000-169895400	Enhancers	HSMMtube	muscle

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