Variant report

Variant	rs4145763
Chromosome Location	chr1:165795244-165795245
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:165735886..165744990-chr1:165791702..165805629,42	K562	blood:
2	chr1:165735066..165739781-chr1:165794447..165799093,13	MCF-7	breast:
3	chr1:165736117..165742504-chr1:165795129..165799551,11	MCF-7	breast:
4	chr1:165736523..165741866-chr1:165791420..165802380,26	K562	blood:

Variant related genes	Relation type
ENSG00000143183	Chromatin interaction
ENSG00000224358	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12079614	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7534738	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2756102	chr1:165652342-165877342	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1011720	chr1:165669589-165802516	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv517792	chr1:165785503-165811729	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases
4	esv2830094	chr1:165785503-165840411	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	31 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	chr1:165790800-165796200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr1:165790800-165796200	Weak transcription	Right Atrium	heart
3	chr1:165790800-165796800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:165792800-165796200	Weak transcription	Pancreas	Pancrea
5	chr1:165793200-165795800	Weak transcription	Brain Angular Gyrus	brain
6	chr1:165793200-165796000	Weak transcription	Brain Anterior Caudate	brain
7	chr1:165793800-165795800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:165793800-165795800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:165793800-165795800	Weak transcription	Brain Substantia Nigra	brain
10	chr1:165793800-165796000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:165793800-165796000	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr1:165793800-165796000	Weak transcription	Brain Hippocampus Middle	brain
13	chr1:165793800-165796000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr1:165793800-165796000	Weak transcription	K562	blood
15	chr1:165793800-165796200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr1:165793800-165796200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:165793800-165796200	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr1:165793800-165796200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:165793800-165796200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:165793800-165796200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:165793800-165796200	Weak transcription	HSMM	muscle
22	chr1:165793800-165796200	Weak transcription	Osteobl	bone
23	chr1:165793800-165796400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr1:165794000-165796000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:165794000-165796200	Weak transcription	NHDF-Ad	bronchial
26	chr1:165794200-165796200	Weak transcription	Aorta	Aorta
27	chr1:165795200-165795400	Enhancers	Fetal Intestine Small	intestine

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