Variant report

Variant	rs4043745
Chromosome Location	chr1:151467349-151467350
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:151465693..151469281-chr1:151809820..151814205,4	MCF-7	breast:
2	1:151411623-151426875..1:151461759-151468043	Hela-S3	cervix:
3	chr1:151464854..151467789-chr1:151473265..151475428,2	K562	blood:
4	1:151461759-151468043..1:151516085-151535167	Hela-S3	cervix:
5	chr1:151430347..151433120-chr1:151465110..151469553,7	MCF-7	breast:
6	chr1:151463912..151470062-chr1:151482602..151487656,8	MCF-7	breast:
7	1:151461759-151468043..1:151618750-151636526	K562	blood:

Variant related genes	Relation type
ENSG00000207606	Chromatin interaction
ENSG00000143375	Chromatin interaction
ENSG00000143442	Chromatin interaction
ENSG00000143367	Chromatin interaction
ENSG00000143376	Chromatin interaction
ENSG00000225556	Chromatin interaction
ENSG00000223861	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10749664	0.83[AMR][1000 genomes]
rs10888417	0.89[AFR][1000 genomes]
rs11204831	1.00[AMR][1000 genomes]
rs1342928	0.83[AMR][1000 genomes]
rs1539491	1.00[AMR][1000 genomes]
rs2211436	1.00[AMR][1000 genomes]
rs4246523	1.00[AMR][1000 genomes]
rs4970915	1.00[AMR][1000 genomes]
rs4970917	1.00[AMR][1000 genomes]
rs4970959	0.83[AMR][1000 genomes]
rs6587600	0.83[AMR][1000 genomes]
rs6668079	0.83[AMR][1000 genomes]
rs9661205	0.83[AMR][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	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
2	nsv831581	chr1:151289151-151478605	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151459400-151468200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:151465000-151471000	Weak transcription	K562	blood
3	chr1:151466400-151468400	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr1:151466400-151468400	Enhancers	Fetal Intestine Small	intestine
5	chr1:151466600-151468200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr1:151466600-151468600	Enhancers	Fetal Intestine Large	intestine
7	chr1:151466800-151467400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:151466800-151467400	Enhancers	Fetal Muscle Trunk	muscle
9	chr1:151466800-151467400	Enhancers	Fetal Muscle Leg	muscle
10	chr1:151467000-151468000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:151467000-151468200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:151467000-151468200	Enhancers	Hela-S3	cervix
13	chr1:151467000-151468400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:151467000-151468400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:151467000-151468400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:151467000-151468400	Enhancers	Muscle Satellite Cultured Cells	--
17	chr1:151467000-151468600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:151467000-151468600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:151467000-151468600	Enhancers	Brain Substantia Nigra	brain
20	chr1:151467000-151468600	Enhancers	HUVEC	blood vessel
21	chr1:151467000-151468800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:151467000-151468800	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr1:151467200-151467400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:151467200-151467400	Enhancers	Brain Anterior Caudate	brain
25	chr1:151467200-151467400	Enhancers	Duodenum Mucosa	Duodenum
26	chr1:151467200-151467400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr1:151467200-151467400	Enhancers	Lung	lung
28	chr1:151467200-151467400	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr1:151467200-151467600	Enhancers	Adipose Nuclei	Adipose
30	chr1:151467200-151467600	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr1:151467200-151467800	Enhancers	GM12878-XiMat	blood
32	chr1:151467200-151468000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:151467200-151468000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:151467200-151468000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:151467200-151468000	Enhancers	Osteobl	bone
36	chr1:151467200-151468200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:151467200-151468200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr1:151467200-151468200	Enhancers	HSMM	muscle
39	chr1:151467200-151468200	Enhancers	HSMMtube	muscle
40	chr1:151467200-151468200	Enhancers	NH-A	brain
41	chr1:151467200-151468400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr1:151467200-151468400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr1:151467200-151468400	Enhancers	A549	lung
44	chr1:151467200-151468400	Enhancers	HepG2	liver
45	chr1:151467200-151468400	Enhancers	HMEC	breast
46	chr1:151467200-151468400	Enhancers	NHLF	lung
47	chr1:151467200-151468600	Enhancers	Brain Cingulate Gyrus	brain
48	chr1:151467200-151468600	Enhancers	Brain Hippocampus Middle	brain
49	chr1:151467200-151468600	Enhancers	NHEK	skin

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