Variant report

Variant	rs58296042
Chromosome Location	chr1:86172607-86172608
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:86043660..86051626-chr1:86167839..86177430,17	K562	blood:
2	chr1:86046116..86050935-chr1:86168336..86177340,12	K562	blood:
3	chr1:86048055..86050244-chr1:86170828..86173299,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000142871	Chromatin interaction
ENSG00000153904	Chromatin interaction
ENSG00000272691	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1871764	1.00[AMR][1000 genomes]
rs55929629	1.00[AMR][1000 genomes]
rs56276114	0.85[AFR][1000 genomes]
rs59342371	1.00[AMR][1000 genomes]
rs74097076	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74097609	1.00[AMR][1000 genomes]
rs74097611	1.00[AMR][1000 genomes]
rs74098855	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	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv3391173	chr1:86005637-86337469	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv817212	chr1:86127851-86658426	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv871471	chr1:86143084-86211516	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86103400-86173000	Weak transcription	Pancreas	Pancrea
2	chr1:86147200-86172800	Weak transcription	Aorta	Aorta
3	chr1:86157800-86173000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:86158000-86173000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:86167800-86173000	Weak transcription	Lung	lung
6	chr1:86170600-86173000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:86171200-86173000	Weak transcription	Esophagus	oesophagus
8	chr1:86171400-86172800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr1:86171400-86173000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:86171600-86173000	Weak transcription	Left Ventricle	heart
11	chr1:86171600-86174600	Active TSS	GM12878-XiMat	blood
12	chr1:86171800-86173000	Weak transcription	Fetal Muscle Trunk	muscle
13	chr1:86171800-86173800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:86172000-86172800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:86172000-86172800	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr1:86172000-86173000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr1:86172000-86173000	Weak transcription	Placenta	Placenta
18	chr1:86172000-86173400	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr1:86172000-86174800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr1:86172200-86172800	Weak transcription	Fetal Thymus	thymus
21	chr1:86172200-86173000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr1:86172200-86173000	Flanking Active TSS	Fetal Kidney	kidney
23	chr1:86172200-86173000	Flanking Active TSS	NHEK	skin
24	chr1:86172200-86173000	Flanking Active TSS	Osteobl	bone
25	chr1:86172200-86173200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:86172200-86174600	Active TSS	K562	blood
27	chr1:86172200-86174600	Active TSS	NHLF	lung
28	chr1:86172400-86172800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
29	chr1:86172400-86172800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr1:86172400-86172800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr1:86172400-86172800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
32	chr1:86172400-86172800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr1:86172400-86172800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr1:86172400-86172800	Flanking Active TSS	Brain Germinal Matrix	brain
35	chr1:86172400-86172800	Enhancers	Fetal Heart	heart
36	chr1:86172400-86172800	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr1:86172400-86172800	Flanking Active TSS	HepG2	liver
38	chr1:86172400-86173000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr1:86172400-86173000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr1:86172400-86173000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr1:86172400-86173000	Enhancers	Placenta Amnion	Placenta Amnion
42	chr1:86172400-86173000	Enhancers	Stomach Mucosa	stomach
43	chr1:86172400-86173200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr1:86172400-86173400	Flanking Active TSS	Primary B cells from cord blood	blood
45	chr1:86172400-86173400	Flanking Active TSS	Primary T cells from cord blood	blood
46	chr1:86172400-86173400	Flanking Active TSS	Brain Cingulate Gyrus	brain
47	chr1:86172400-86173400	Flanking Active TSS	Dnd41	blood
48	chr1:86172400-86173600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr1:86172400-86173600	Flanking Active TSS	HUVEC	blood vessel
50	chr1:86172400-86173600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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