Variant report

Variant	rs58068435
Chromosome Location	chr4:148715797-148715798
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:148713641..148716368-chr4:148719518..148721494,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10001327	1.00[ASN][1000 genomes]
rs10519917	0.81[ASN][1000 genomes]
rs1119887	0.87[AFR][1000 genomes]
rs11935450	0.81[ASN][1000 genomes]
rs11935510	0.81[ASN][1000 genomes]
rs11935620	0.81[ASN][1000 genomes]
rs11940379	0.81[ASN][1000 genomes]
rs17023844	0.87[AFR][1000 genomes]
rs17023845	0.86[ASN][1000 genomes]
rs17023846	0.90[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs17023870	0.81[ASN][1000 genomes]
rs2134707	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs55714518	0.87[AFR][1000 genomes]
rs58274809	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58762227	0.88[ASN][1000 genomes]
rs59535925	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs60042554	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028958	chr4:148377752-148793485	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv498083	chr4:148519825-148917583	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv880242	chr4:148659137-148727355	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148701800-148716800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:148708400-148721200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:148709000-148721200	Weak transcription	Lung	lung
4	chr4:148709000-148721400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr4:148709000-148721400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:148709000-148721400	Weak transcription	Esophagus	oesophagus
7	chr4:148710400-148729600	Weak transcription	HSMM	muscle
8	chr4:148711000-148720200	Weak transcription	Fetal Stomach	stomach
9	chr4:148711000-148729200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr4:148711600-148721200	Weak transcription	Pancreas	Pancrea
11	chr4:148713000-148715800	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr4:148713000-148721400	Weak transcription	Fetal Muscle Trunk	muscle
13	chr4:148713800-148720400	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr4:148714000-148716600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr4:148714200-148716400	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr4:148714200-148716400	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr4:148714200-148716600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr4:148714200-148716600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr4:148714200-148716800	Enhancers	Thymus	Thymus
20	chr4:148714200-148717800	Enhancers	Fetal Thymus	thymus
21	chr4:148714200-148720200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr4:148714400-148716400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr4:148714400-148716600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr4:148714400-148716800	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr4:148714400-148716800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr4:148714600-148715800	Flanking Active TSS	NHEK	skin
27	chr4:148714600-148716000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr4:148714600-148716200	Enhancers	Adipose Nuclei	Adipose
29	chr4:148714600-148716400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr4:148714600-148716400	Enhancers	Primary T cells from cord blood	blood
31	chr4:148714600-148716400	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr4:148714600-148716600	Enhancers	Fetal Intestine Small	intestine
33	chr4:148714600-148716600	Enhancers	HepG2	liver
34	chr4:148714600-148716800	Enhancers	Fetal Intestine Large	intestine
35	chr4:148714800-148716400	Enhancers	Small Intestine	intestine
36	chr4:148714800-148716600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr4:148714800-148716600	Flanking Active TSS	GM12878-XiMat	blood
38	chr4:148715000-148716000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr4:148715000-148716000	Weak transcription	Fetal Kidney	kidney
40	chr4:148715000-148716200	Weak transcription	Placenta	Placenta
41	chr4:148715000-148721000	Weak transcription	Right Atrium	heart
42	chr4:148715200-148716000	Enhancers	Duodenum Mucosa	Duodenum
43	chr4:148715200-148716400	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr4:148715200-148716400	Enhancers	HMEC	breast
45	chr4:148715200-148719200	Weak transcription	Fetal Lung	lung
46	chr4:148715200-148720000	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr4:148715200-148720200	Weak transcription	Rectal Smooth Muscle	rectum
48	chr4:148715200-148721400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr4:148715200-148735200	Weak transcription	Stomach Mucosa	stomach
50	chr4:148715400-148715800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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