Variant report

Variant	rs56090943
Chromosome Location	chr3:133530647-133530648
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:133523328..133525267-chr3:133529249..133532239,3	MCF-7	breast:
2	chr3:133523551..133526872-chr3:133527016..133531055,8	MCF-7	breast:
3	chr3:133523642..133526680-chr3:133527233..133530883,4	K562	blood:
4	chr3:133522634..133526763-chr3:133529104..133532905,8	K562	blood:

Variant related genes	Relation type
ENSG00000144867	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1107413	0.86[ASN][1000 genomes]
rs13321680	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13324779	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1464937	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3817524	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7355929	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9810872	0.84[ASN][1000 genomes]
rs9853615	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9876158	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9881405	0.86[ASN][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	nsv877506	chr3:133423473-133569777	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv933605	chr3:133425907-133680641	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv829729	chr3:133444871-133620387	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv4018	chr3:133485867-133530668	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133525400-133532800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:133525400-133532800	Weak transcription	Esophagus	oesophagus
3	chr3:133525400-133533600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr3:133525400-133533600	Weak transcription	Spleen	Spleen
5	chr3:133525400-133539000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:133525600-133531600	Weak transcription	Colonic Mucosa	Colon
7	chr3:133525600-133532800	Weak transcription	Ovary	ovary
8	chr3:133525600-133533600	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr3:133525600-133533600	Weak transcription	Pancreas	Pancrea
10	chr3:133525600-133533800	Weak transcription	Fetal Kidney	kidney
11	chr3:133525600-133533800	Weak transcription	Psoas Muscle	Psoas
12	chr3:133525600-133534200	Weak transcription	Right Ventricle	heart
13	chr3:133525600-133534400	Weak transcription	Brain Substantia Nigra	brain
14	chr3:133525600-133538400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr3:133525600-133539000	Weak transcription	Gastric	stomach
16	chr3:133525600-133539200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr3:133525600-133541000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr3:133525800-133531400	Weak transcription	Fetal Heart	heart
19	chr3:133525800-133531800	Weak transcription	HSMMtube	muscle
20	chr3:133525800-133533600	Weak transcription	Brain Hippocampus Middle	brain
21	chr3:133525800-133534000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr3:133525800-133536400	Weak transcription	Colon Smooth Muscle	Colon
23	chr3:133525800-133538800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr3:133525800-133538800	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr3:133525800-133538800	Weak transcription	Stomach Mucosa	stomach
26	chr3:133525800-133541000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr3:133526000-133531600	Weak transcription	Adipose Nuclei	Adipose
28	chr3:133526200-133531000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr3:133526200-133537400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr3:133526200-133540600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr3:133526200-133543400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr3:133526400-133532200	Strong transcription	Primary B cells from cord blood	blood
33	chr3:133526400-133536800	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr3:133526400-133537200	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr3:133526400-133537400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr3:133526400-133540200	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr3:133526400-133543800	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr3:133526400-133544000	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr3:133526400-133544000	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr3:133526600-133531000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr3:133526600-133531200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr3:133526600-133531200	Strong transcription	Osteobl	bone
43	chr3:133526600-133532600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr3:133526600-133536200	Strong transcription	HSMM	muscle
45	chr3:133526600-133536800	Strong transcription	Fetal Muscle Leg	muscle
46	chr3:133526600-133537000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr3:133526600-133537000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr3:133526600-133537000	Strong transcription	Placenta	Placenta
49	chr3:133526600-133537200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr3:133526600-133537600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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