Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:211871387..211873380-chr1:212206140..212208197,2	K562	blood:
2	chr1:211872037..211874391-chr1:211908147..211910585,2	MCF-7	breast:
3	chr1:211872653..211875227-chr1:212001371..212003518,2	K562	blood:
4	chr1:211872225..211875741-chr1:211876150..211878812,3	K562	blood:
5	chr1:211872121..211873841-chr1:212003918..212005931,2	K562	blood:

Variant related genes	Relation type
ENSG00000229258	Chromatin interaction
ENSG00000123684	Chromatin interaction

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10494940	0.81[MEX][hapmap]
rs1067244	0.81[JPT][hapmap]
rs12071408	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12092549	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58801062	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[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	esv2754845	chr1:211846605-211878605	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10494941	C4BPB	cis	cerebellum	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211872200-211878800	Weak transcription	Right Atrium	heart
2	chr1:211872400-211873200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:211872400-211874400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:211872400-211874800	Weak transcription	K562	blood
5	chr1:211872600-211877000	Weak transcription	Pancreas	Pancrea
6	chr1:211872600-211877200	Weak transcription	Spleen	Spleen
7	chr1:211872600-211878000	Weak transcription	HMEC	breast
8	chr1:211872800-211876800	Weak transcription	Brain Anterior Caudate	brain
9	chr1:211872800-211877000	Weak transcription	Fetal Thymus	thymus
10	chr1:211872800-211884000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:211873000-211873200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
12	chr1:211873000-211873200	Bivalent Enhancer	HepG2	liver
13	chr1:211873000-211874600	Weak transcription	GM12878-XiMat	blood
14	chr1:211873000-211874600	Weak transcription	NHEK	skin
15	chr1:211873000-211875200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr1:211873000-211875800	Weak transcription	Brain Hippocampus Middle	brain
17	chr1:211873000-211876000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr1:211873000-211876400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr1:211873000-211876400	Weak transcription	Brain Substantia Nigra	brain
20	chr1:211873000-211876600	Weak transcription	Brain Angular Gyrus	brain
21	chr1:211873000-211877600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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