Variant report

Variant	rs12022782
Chromosome Location	chr1:180869516-180869517
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:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:180866617..180870349-chr1:180876247..180878371,3	MCF-7	breast:
2	chr1:180868023..180870697-chr1:180871039..180876030,6	K562	blood:
3	chr1:180869114..180871088-chr1:181108466..181111253,2	MCF-7	breast:
4	chr1:180857763..180859865-chr1:180868905..180871208,2	K562	blood:
5	chr1:180869131..180871250-chr1:180872098..180874284,2	MCF-7	breast:
6	chr1:180868533..180870624-chr1:180874498..180876030,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-XPR1-1	chr1:180868088-180869874	XLOC_000478

No data

Variant related genes	Relation type
ENSG00000225857	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10753223	0.85[EUR][1000 genomes]
rs10798788	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs10798789	0.85[EUR][1000 genomes]
rs10798792	0.81[EUR][1000 genomes]
rs10798793	0.85[CEU][hapmap];0.86[EUR][1000 genomes]
rs10798794	0.83[EUR][1000 genomes]
rs10914083	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs10914112	0.82[CEU][hapmap];0.86[EUR][1000 genomes]
rs10914123	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs12120797	0.85[EUR][1000 genomes]
rs12131056	0.82[EUR][1000 genomes]
rs12562489	0.85[CEU][hapmap];0.87[EUR][1000 genomes]
rs12564487	0.92[CEU][hapmap];0.93[EUR][1000 genomes]
rs1973674	0.82[EUR][1000 genomes]
rs2944261	0.86[EUR][1000 genomes]
rs3002118	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs3002119	0.85[CEU][hapmap];0.86[EUR][1000 genomes]
rs3761903	0.92[CEU][hapmap];0.96[EUR][1000 genomes]
rs3789370	0.87[EUR][1000 genomes]
rs3908048	0.89[CEU][hapmap]
rs4598454	0.88[EUR][1000 genomes]
rs4652529	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs4652530	0.85[EUR][1000 genomes]
rs6700926	0.85[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.85[EUR][1000 genomes]
rs6702006	0.86[EUR][1000 genomes]
rs7349119	0.88[EUR][1000 genomes]
rs7536258	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs7546227	0.92[CEU][hapmap]
rs7556592	0.84[CEU][hapmap];0.85[EUR][1000 genomes]
rs9661675	0.89[EUR][1000 genomes]
rs9919167	0.89[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180805800-180881000	Weak transcription	Aorta	Aorta
2	chr1:180824000-180880800	Weak transcription	Right Ventricle	heart
3	chr1:180835800-180870400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:180844200-180872200	Weak transcription	Esophagus	oesophagus
5	chr1:180847400-180875400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:180852000-180870400	Weak transcription	A549	lung
7	chr1:180857600-180869600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:180858400-180870600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr1:180861200-180880800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr1:180864600-180870200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr1:180867400-180869600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr1:180867600-180869600	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr1:180867600-180869800	Enhancers	H1 Cell Line	embryonic stem cell
14	chr1:180867600-180869800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:180868000-180870600	Weak transcription	Brain Germinal Matrix	brain
16	chr1:180868000-180878600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:180868400-180869600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:180868400-180869800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr1:180868400-180878400	Weak transcription	Fetal Lung	lung
20	chr1:180868800-180869600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:180868800-180879400	Weak transcription	Fetal Stomach	stomach
22	chr1:180868800-180880400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr1:180868800-180881000	Weak transcription	Right Atrium	heart
24	chr1:180869200-180869600	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr1:180869200-180877400	Weak transcription	Fetal Muscle Leg	muscle
26	chr1:180869400-180869600	Enhancers	Pancreas	Pancrea
27	chr1:180869400-180875800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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