Variant report

Variant	rs4613428
Chromosome Location	chr3:133967362-133967363
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:133966207..133969204-chr3:134075829..134077344,2	MCF-7	breast:
2	chr3:133959235..133962152-chr3:133965404..133967966,3	K562	blood:
3	chr3:133966982..133969357-chr3:134203200..134205519,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000129055	Chromatin interaction
ENSG00000182923	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs57032924	0.86[AFR][1000 genomes]
rs59757921	1.00[AMR][1000 genomes]
rs61387165	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6767331	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6771052	0.92[AFR][1000 genomes]
rs6792002	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72984466	0.86[AFR][1000 genomes]
rs72984483	0.92[AFR][1000 genomes]
rs72984488	0.86[AFR][1000 genomes]
rs72984501	0.94[AFR][1000 genomes]
rs72986403	0.94[AFR][1000 genomes]
rs72986405	0.97[AFR][1000 genomes]
rs72986428	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72986432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3522171	chr3:133889405-134156571	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv3522172	chr3:133889405-134156571	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	esv1794616	chr3:133949713-133973731	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
4	esv1798974	chr3:133949713-133973731	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
5	esv1802675	chr3:133949713-133973731	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
6	esv1815799	chr3:133949713-133973731	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
7	esv1819695	chr3:133949713-133973731	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
8	esv1822126	chr3:133949713-133973731	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
9	esv1839030	chr3:133949713-133973731	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
10	esv1799165	chr3:133959746-133973731	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
11	esv1803106	chr3:133959746-133973731	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133930200-133968000	Weak transcription	Fetal Kidney	kidney
2	chr3:133941400-133967400	Weak transcription	Fetal Muscle Leg	muscle
3	chr3:133953200-133967800	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr3:133957600-133968000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr3:133957600-133968000	Weak transcription	Fetal Stomach	stomach
6	chr3:133958800-133967800	Weak transcription	Stomach Mucosa	stomach
7	chr3:133958800-133968200	Weak transcription	Brain Substantia Nigra	brain
8	chr3:133959000-133967600	Weak transcription	GM12878-XiMat	blood
9	chr3:133959000-133968200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr3:133959000-133968800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr3:133959200-133967800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr3:133959600-133967800	Enhancers	HepG2	liver
13	chr3:133962000-133967600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr3:133962000-133968200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr3:133962200-133967600	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr3:133962200-133967600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr3:133962400-133967600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr3:133962400-133967600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr3:133962400-133968000	Weak transcription	HSMMtube	muscle
20	chr3:133962400-133968200	Weak transcription	Aorta	Aorta
21	chr3:133962400-133968200	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr3:133962600-133967600	Weak transcription	HSMM	muscle
23	chr3:133962600-133967600	Weak transcription	NH-A	brain
24	chr3:133962600-133967600	Weak transcription	Osteobl	bone
25	chr3:133962600-133968000	Weak transcription	Fetal Intestine Small	intestine
26	chr3:133962800-133967600	Weak transcription	NHLF	lung
27	chr3:133962800-133968200	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr3:133963200-133968400	Weak transcription	Placenta	Placenta
29	chr3:133963400-133967600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr3:133963400-133967600	Weak transcription	Small Intestine	intestine
31	chr3:133963400-133968000	Weak transcription	Fetal Intestine Large	intestine
32	chr3:133963400-133968400	Weak transcription	Lung	lung
33	chr3:133963400-133968800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr3:133963600-133967600	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr3:133963600-133968000	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr3:133963600-133968000	Weak transcription	K562	blood
37	chr3:133963600-133968400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr3:133963600-133968400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr3:133963800-133967600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr3:133963800-133967600	Weak transcription	Brain Cingulate Gyrus	brain
41	chr3:133963800-133968000	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr3:133964000-133967400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr3:133964000-133968200	Weak transcription	Right Atrium	heart
44	chr3:133964000-133968600	Weak transcription	Left Ventricle	heart
45	chr3:133964200-133968200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr3:133964400-133967600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr3:133964400-133967800	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr3:133964400-133968200	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr3:133964600-133967400	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr3:133964600-133967800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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