Variant report

Variant	rs12127633
Chromosome Location	chr1:95586159-95586160
allele	A/G
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: 2 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs4565770	0.83[ASN][1000 genomes]

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	chr1:95584400-95586200	Enhancers	Brain Cingulate Gyrus	brain
10	chr1:95584400-95586400	Enhancers	Brain Hippocampus Middle	brain
11	chr1:95584400-95587400	Weak transcription	Fetal Intestine Large	intestine
12	chr1:95584400-95587600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr1:95584400-95588400	Weak transcription	Hela-S3	cervix
14	chr1:95584400-95590400	Enhancers	HepG2	liver
15	chr1:95584400-95603400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr1:95584600-95588400	Enhancers	Duodenum Mucosa	Duodenum
17	chr1:95584600-95602200	Weak transcription	Right Ventricle	heart
18	chr1:95584800-95586200	Enhancers	Fetal Heart	heart
19	chr1:95584800-95586600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr1:95585000-95586400	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr1:95585000-95589400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr1:95585200-95587000	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr1:95585200-95587200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:95585200-95592200	Weak transcription	Psoas Muscle	Psoas
25	chr1:95585400-95636800	Weak transcription	Colon Smooth Muscle	Colon
26	chr1:95585800-95586200	Weak transcription	A549	lung
27	chr1:95585800-95586400	Weak transcription	Right Atrium	heart
28	chr1:95585800-95586800	Weak transcription	Pancreas	Pancrea
29	chr1:95585800-95587000	Flanking Active TSS	Liver	Liver
30	chr1:95585800-95587000	Enhancers	Left Ventricle	heart
31	chr1:95585800-95588200	Genic enhancers	K562	blood
32	chr1:95586000-95586400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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