Variant report

Variant	rs58047756
Chromosome Location	chr1:180923587-180923588
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:180921716..180926405-chr1:180990463..180993659,6	MCF-7	breast:
2	chr1:180922049..180926985-chr1:181056376..181059811,8	MCF-7	breast:
3	chr1:180920141..180924832-chr1:180927695..180934337,6	MCF-7	breast:
4	chr1:180921700..180925041-chr1:180990802..180993603,10	MCF-7	breast:
5	chr1:180922269..180924346-chr1:181056350..181059480,3	MCF-7	breast:
6	chr1:180894020..180896970-chr1:180921543..180923993,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135823	Chromatin interaction
ENSG00000251520	Chromatin interaction
ENSG00000162783	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10753229	0.98[ASN][1000 genomes]
rs2068800	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4651080	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[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	nsv1014404	chr1:180770155-181090200	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv872579	chr1:180881148-180931508	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv2754938	chr1:180919343-180934343	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180905400-180940600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:180911600-180928400	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr1:180911800-180927600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:180918000-180930000	Weak transcription	HSMMtube	muscle
5	chr1:180918400-180929000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr1:180918400-180929800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr1:180918400-180930000	Weak transcription	Hela-S3	cervix
8	chr1:180918600-180939800	Weak transcription	K562	blood
9	chr1:180918600-180944800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:180919000-180925000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr1:180919600-180923600	Weak transcription	Fetal Kidney	kidney
12	chr1:180919800-180928800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr1:180919800-180935800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr1:180920200-180923800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:180920200-180929000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr1:180920600-180923600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:180920800-180923600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:180921400-180926600	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr1:180921800-180923600	Enhancers	H1 Cell Line	embryonic stem cell
20	chr1:180922200-180928200	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr1:180922200-180929200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr1:180922400-180923800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:180922400-180923800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
24	chr1:180922400-180924000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
25	chr1:180922400-180924000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:180922400-180926800	Enhancers	Fetal Brain Male	brain
27	chr1:180922600-180923800	Active TSS	Primary T cells from cord blood	blood
28	chr1:180922600-180923800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:180922600-180923800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:180922600-180923800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr1:180922600-180923800	Active TSS	HepG2	liver
32	chr1:180922600-180924000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
33	chr1:180922600-180924000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
34	chr1:180922600-180949400	Strong transcription	Dnd41	blood
35	chr1:180922800-180923600	Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr1:180922800-180923600	Active TSS	Brain Cingulate Gyrus	brain
37	chr1:180922800-180923600	Active TSS	Esophagus	oesophagus
38	chr1:180922800-180923600	Active TSS	Gastric	stomach
39	chr1:180922800-180923600	Active TSS	Lung	lung
40	chr1:180922800-180923600	Active TSS	Pancreas	Pancrea
41	chr1:180922800-180923600	Active TSS	Small Intestine	intestine
42	chr1:180922800-180923600	Active TSS	Spleen	Spleen
43	chr1:180922800-180923600	Active TSS	NHDF-Ad	bronchial
44	chr1:180922800-180923800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:180922800-180923800	Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr1:180922800-180923800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr1:180922800-180923800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
48	chr1:180922800-180923800	Active TSS	Brain Anterior Caudate	brain
49	chr1:180922800-180923800	Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr1:180922800-180923800	Active TSS	Pancreatic Islets	Pancreatic Islet

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