Variant report

Variant	rs57231754
Chromosome Location	chr3:140993544-140993545
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:140949328..140952346-chr3:140991131..140995521,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000155893	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10935426	0.85[AFR][1000 genomes]
rs4683593	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs57865508	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6772975	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6790263	0.83[AFR][1000 genomes]
rs73232953	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73232954	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[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	nsv460870	chr3:140938546-141005574	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv591892	chr3:140938546-141005574	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv877551	chr3:140970556-141029860	Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	esv3336617	chr3:140992062-140995160	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:140957400-141001000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr3:140959200-140998400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr3:140961200-141012600	Weak transcription	Aorta	Aorta
4	chr3:140978000-140998000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr3:140978200-140993600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr3:140979000-141000800	Weak transcription	Fetal Kidney	kidney
7	chr3:140979000-141013200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr3:140980800-141005600	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr3:140981000-140998400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr3:140981200-141013200	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr3:140981200-141013400	Weak transcription	Colonic Mucosa	Colon
12	chr3:140981400-141001000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr3:140983600-141021600	Weak transcription	Esophagus	oesophagus
14	chr3:140984000-140997400	Weak transcription	Fetal Brain Female	brain
15	chr3:140984200-141000800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr3:140984600-140997600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr3:140984800-141006400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr3:140985800-140993800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr3:140986200-140997600	Weak transcription	Brain Anterior Caudate	brain
20	chr3:140986200-140997600	Weak transcription	Brain Hippocampus Middle	brain
21	chr3:140986200-140997600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr3:140986200-140998000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr3:140986200-141000800	Weak transcription	Fetal Lung	lung
24	chr3:140986600-140994200	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr3:140986600-140994400	Genic enhancers	Dnd41	blood
26	chr3:140986800-140997400	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr3:140987200-140997400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr3:140987600-140993600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr3:140987800-140997600	Weak transcription	HSMMtube	muscle
30	chr3:140988200-141022600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr3:140988400-141001800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr3:140990000-140993800	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr3:140990800-140998600	Weak transcription	Gastric	stomach
34	chr3:140991000-140996400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr3:140991000-140996800	Weak transcription	Fetal Intestine Large	intestine
36	chr3:140991000-140997400	Weak transcription	Right Atrium	heart
37	chr3:140991000-140997800	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr3:140991000-140999600	Weak transcription	Pancreas	Pancrea
39	chr3:140991200-140993600	Weak transcription	Fetal Heart	heart
40	chr3:140991200-140993800	Weak transcription	HepG2	liver
41	chr3:140991800-140994400	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr3:140991800-140996800	Enhancers	Placenta	Placenta
43	chr3:140992000-140994400	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr3:140992200-140997600	Weak transcription	Brain Angular Gyrus	brain
45	chr3:140992400-140994400	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr3:140992600-140993600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr3:140992600-140993600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr3:140992600-140993800	Strong transcription	Stomach Smooth Muscle	stomach
49	chr3:140992600-140994000	Strong transcription	Fetal Muscle Leg	muscle
50	chr3:140992600-140995200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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