Variant report

Variant	rs12084387
Chromosome Location	chr1:95586323-95586324
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:95580754..95585035-chr1:95586074..95591340,6	K562	blood:

Variant related genes	Relation type
ENSG00000152078	Chromatin interaction
ENSG00000271092	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10874906	0.93[CHB][hapmap];0.83[CHD][hapmap];0.93[JPT][hapmap];0.88[MEX][hapmap];0.88[AMR][1000 genomes]
rs11165314	0.82[ASW][hapmap];0.93[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.96[AMR][1000 genomes]
rs11165317	0.85[AMR][1000 genomes]
rs11165318	0.93[CHB][hapmap];0.83[CHD][hapmap];0.93[JPT][hapmap];0.88[MEX][hapmap];0.91[YRI][hapmap];0.88[AMR][1000 genomes]
rs11165319	0.88[AMR][1000 genomes]
rs11165333	0.84[CHB][hapmap];0.92[JPT][hapmap];0.88[AMR][1000 genomes]
rs11165343	0.85[AMR][1000 genomes]
rs11165346	0.92[CHB][hapmap]
rs12021650	0.85[AMR][1000 genomes]
rs12036706	0.88[AMR][1000 genomes]
rs12037572	0.85[AMR][1000 genomes]
rs12048133	0.93[CHB][hapmap];0.93[JPT][hapmap];0.88[AMR][1000 genomes]
rs12067935	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12085822	0.88[AMR][1000 genomes]
rs12407571	0.85[AMR][1000 genomes]
rs2147587	0.93[CHB][hapmap]
rs2148797	0.93[CHB][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes]
rs2296308	0.93[CHB][hapmap]
rs259340	0.93[CHB][hapmap]
rs259342	0.93[CHB][hapmap];0.88[MEX][hapmap]
rs259344	0.93[CHB][hapmap]
rs259356	0.93[CHB][hapmap]
rs3753872	0.93[CHB][hapmap]
rs61771764	0.85[AMR][1000 genomes]
rs61771765	0.85[AMR][1000 genomes]
rs61771766	0.85[AMR][1000 genomes]
rs61773101	0.95[EUR][1000 genomes]
rs6666528	0.93[CHB][hapmap]
rs6702139	0.93[CHB][hapmap];0.93[JPT][hapmap];0.96[AMR][1000 genomes]
rs7528790	0.93[CHB][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	nsv830636	chr1:95495849-95703126	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95583800-95587600	Weak transcription	Gastric	stomach
2	chr1:95584000-95586400	Enhancers	Brain Angular Gyrus	brain
3	chr1:95584000-95586600	Enhancers	Brain Anterior Caudate	brain
4	chr1:95584000-95586800	Enhancers	Brain Substantia Nigra	brain
5	chr1:95584000-95587600	Weak transcription	Fetal Intestine Small	intestine
6	chr1:95584000-95592600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:95584000-95629400	Weak transcription	Aorta	Aorta
8	chr1:95584200-95586800	Enhancers	Fetal Lung	lung
9	chr1:95584400-95586400	Enhancers	Brain Hippocampus Middle	brain
10	chr1:95584400-95587400	Weak transcription	Fetal Intestine Large	intestine
11	chr1:95584400-95587600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr1:95584400-95588400	Weak transcription	Hela-S3	cervix
13	chr1:95584400-95590400	Enhancers	HepG2	liver
14	chr1:95584400-95603400	Weak transcription	Stomach Smooth Muscle	stomach
15	chr1:95584600-95588400	Enhancers	Duodenum Mucosa	Duodenum
16	chr1:95584600-95602200	Weak transcription	Right Ventricle	heart
17	chr1:95584800-95586600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr1:95585000-95586400	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr1:95585000-95589400	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr1:95585200-95587000	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr1:95585200-95587200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:95585200-95592200	Weak transcription	Psoas Muscle	Psoas
23	chr1:95585400-95636800	Weak transcription	Colon Smooth Muscle	Colon
24	chr1:95585800-95586400	Weak transcription	Right Atrium	heart
25	chr1:95585800-95586800	Weak transcription	Pancreas	Pancrea
26	chr1:95585800-95587000	Flanking Active TSS	Liver	Liver
27	chr1:95585800-95587000	Enhancers	Left Ventricle	heart
28	chr1:95585800-95588200	Genic enhancers	K562	blood
29	chr1:95586000-95586400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr1:95586200-95586400	Enhancers	A549	lung
31	chr1:95586200-95586800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr1:95586200-95587400	Weak transcription	Fetal Heart	heart

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