Variant report

Variant	rs10914145
Chromosome Location	chr1:180937456-180937457
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:180933034..180938105-chr1:180938834..180942220,6	MCF-7	breast:
2	chr1:180933010..180935811-chr1:180935883..180937757,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251520	Chromatin interaction
ENSG00000234237	Chromatin interaction
ENSG00000270711	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10737352	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10753230	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10753231	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10798796	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10914142	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12145907	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3737061	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3737062	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4651079	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4652543	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59805843	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7516077	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7537859	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7538053	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7551728	0.95[AMR][1000 genomes];0.97[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:119 , 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	chr1:180918600-180939800	Weak transcription	K562	blood
3	chr1:180918600-180944800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:180922600-180949400	Strong transcription	Dnd41	blood
5	chr1:180923600-180944800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr1:180923600-180958800	Weak transcription	Small Intestine	intestine
7	chr1:180923800-180938600	Weak transcription	Aorta	Aorta
8	chr1:180923800-180942800	Weak transcription	Fetal Lung	lung
9	chr1:180923800-180944800	Weak transcription	HUVEC	blood vessel
10	chr1:180923800-180944800	Weak transcription	NH-A	brain
11	chr1:180924000-180937800	Weak transcription	Right Ventricle	heart
12	chr1:180924000-180938400	Weak transcription	NHLF	lung
13	chr1:180924000-180938800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr1:180924000-180939000	Weak transcription	Colonic Mucosa	Colon
15	chr1:180924000-180939200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr1:180924000-180939400	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr1:180924000-180940000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr1:180924000-180940200	Weak transcription	Gastric	stomach
19	chr1:180924000-180941600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr1:180924200-180939000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr1:180924200-180940000	Weak transcription	NHDF-Ad	bronchial
22	chr1:180924200-180941600	Weak transcription	Pancreas	Pancrea
23	chr1:180924200-180942000	Weak transcription	Liver	Liver
24	chr1:180924200-180943400	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr1:180926000-180938200	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr1:180929000-180956200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr1:180929600-180939200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr1:180930200-180939600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr1:180930200-180950200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr1:180930800-180939000	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr1:180930800-180939200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr1:180931000-180938600	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr1:180931000-180939000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr1:180931000-180939000	Weak transcription	A549	lung
35	chr1:180931200-180938400	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr1:180931200-180939600	Weak transcription	HSMM	muscle
37	chr1:180931400-180938600	Weak transcription	Esophagus	oesophagus
38	chr1:180931400-180939200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr1:180931600-180941800	Weak transcription	Placenta	Placenta
40	chr1:180931600-180950800	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr1:180931800-180938600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:180932000-180937800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr1:180932000-180938000	Weak transcription	Brain Anterior Caudate	brain
44	chr1:180932000-180938200	Weak transcription	Brain Hippocampus Middle	brain
45	chr1:180932000-180938200	Weak transcription	Brain Substantia Nigra	brain
46	chr1:180932000-180940200	Weak transcription	Ovary	ovary
47	chr1:180932000-180942600	Weak transcription	HSMMtube	muscle
48	chr1:180932000-180944800	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr1:180932200-180938400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:180932200-180938400	Weak transcription	Brain Germinal Matrix	brain

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