Variant report

Variant	rs1044595
Chromosome Location	chr1:180943529-180943530
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:180939499..180941423-chr1:180943499..180945030,2	MCF-7	breast:
2	chr1:180941247..180944022-chr1:180945114..180947896,2	K562	blood:
3	chr1:180942605..180944590-chr1:180960185..180961783,2	K562	blood:
4	chr1:180943158..180945355-chr1:181056625..181059622,2	K562	blood:
5	chr1:180942530..180944885-chr1:181056383..181057996,2	K562	blood:
6	chr1:180942067..180943771-chr1:180945084..180947487,2	MCF-7	breast:
7	chr1:180943290..180946518-chr1:180988963..180992899,3	MCF-7	breast:
8	chr1:180934169..180936242-chr1:180943181..180945047,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000135823	Chromatin interaction
ENSG00000243155	Chromatin interaction
ENSG00000162783	Chromatin interaction
ENSG00000270711	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10753232	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11586493	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12744212	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12754041	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1411478	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2331903	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3747957	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3789362	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3789364	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4111520	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4495657	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4652545	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4652547	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4652548	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59145927	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6425657	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6425658	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6665134	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6680541	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7516739	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7528526	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7543927	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7553330	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[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	esv3342865	chr1:180933678-181018012	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	esv3383831	chr1:180937224-181029755	Strong transcription Active TSS Weak transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180918600-180944800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:180922600-180949400	Strong transcription	Dnd41	blood
3	chr1:180923600-180944800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:180923600-180958800	Weak transcription	Small Intestine	intestine
5	chr1:180923800-180944800	Weak transcription	HUVEC	blood vessel
6	chr1:180923800-180944800	Weak transcription	NH-A	brain
7	chr1:180929000-180956200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:180930200-180950200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr1:180931600-180950800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr1:180932000-180944800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr1:180933200-180947200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:180933400-180948000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr1:180933400-180974600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:180933800-180944200	Strong transcription	Primary T cells from cord blood	blood
15	chr1:180933800-180948800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:180934200-180943800	Strong transcription	Fetal Intestine Large	intestine
17	chr1:180936600-180944000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr1:180937800-180950200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:180937800-180950400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr1:180938000-180944200	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr1:180938000-180947000	Strong transcription	Thymus	Thymus
22	chr1:180938200-180943600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:180938200-180946600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:180938400-180944000	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr1:180938400-180944200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr1:180938600-180944200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr1:180938600-180946600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:180938600-180946800	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr1:180938600-180950600	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr1:180938800-180944200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr1:180938800-180948200	Strong transcription	Fetal Muscle Trunk	muscle
32	chr1:180939000-180948000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr1:180939000-180948400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr1:180939000-180950000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr1:180939200-180944200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr1:180939200-180950600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr1:180939200-180950600	Strong transcription	Primary B cells from cord blood	blood
38	chr1:180939200-180954400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr1:180939200-180965600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr1:180939400-180944200	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr1:180939400-180944200	Strong transcription	Fetal Thymus	thymus
42	chr1:180939400-180948000	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr1:180939600-180944800	Weak transcription	Right Atrium	heart
44	chr1:180939600-180948800	Strong transcription	Primary hematopoietic stem cells	blood
45	chr1:180939600-180949600	Strong transcription	Primary B cells from peripheral blood	blood
46	chr1:180939800-180947800	Strong transcription	GM12878-XiMat	blood
47	chr1:180940000-180944200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr1:180940000-180948600	Strong transcription	HMEC	breast
49	chr1:180940200-180943600	Strong transcription	Osteobl	bone
50	chr1:180940200-180944800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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