Variant report

Variant	rs12028839
Chromosome Location	chr1:95653031-95653032
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:95645766..95648260-chr1:95651851..95654402,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12030774	1.00[JPT][hapmap]
rs12037609	1.00[JPT][hapmap]
rs12090360	0.90[JPT][hapmap]
rs3738169	0.82[ASN][1000 genomes]
rs57721962	0.85[ASN][1000 genomes]
rs58021105	1.00[EUR][1000 genomes]
rs74103664	1.00[EUR][1000 genomes]
rs74103669	1.00[EUR][1000 genomes]
rs74103688	1.00[EUR][1000 genomes]
rs74103693	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv870669	chr1:95586773-95690269	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95592800-95661800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr1:95630600-95655200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr1:95634400-95673200	Weak transcription	Gastric	stomach
4	chr1:95634800-95653400	Weak transcription	Fetal Intestine Large	intestine
5	chr1:95634800-95661200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr1:95634800-95663800	Weak transcription	Duodenum Mucosa	Duodenum
7	chr1:95637800-95661200	Weak transcription	Pancreas	Pancrea
8	chr1:95638200-95665000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:95641000-95654200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr1:95641000-95662800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:95641200-95663400	Weak transcription	A549	lung
12	chr1:95645400-95661200	Weak transcription	Psoas Muscle	Psoas
13	chr1:95645400-95662000	Weak transcription	Adipose Nuclei	Adipose
14	chr1:95645400-95663400	Weak transcription	Left Ventricle	heart
15	chr1:95645800-95657400	Weak transcription	Fetal Heart	heart
16	chr1:95649600-95655800	Strong transcription	Liver	Liver
17	chr1:95650200-95665400	Weak transcription	Brain Anterior Caudate	brain
18	chr1:95650400-95663400	Weak transcription	Fetal Lung	lung
19	chr1:95650800-95660000	Weak transcription	HepG2	liver
20	chr1:95651200-95663600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr1:95651800-95661200	Weak transcription	K562	blood
22	chr1:95653000-95653200	Weak transcription	Fetal Intestine Small	intestine
23	chr1:95653000-95653200	Weak transcription	Fetal Kidney	kidney

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