Variant report

Variant	rs28483089
Chromosome Location	chr4:99433358-99433359
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	chr4:99428008..99431537-chr4:99432874..99435399,3	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10010485	0.86[EUR][1000 genomes]
rs10029528	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10030396	0.86[EUR][1000 genomes]
rs17027682	0.86[EUR][1000 genomes]
rs1919212	0.86[EUR][1000 genomes]
rs28372028	0.89[EUR][1000 genomes]
rs28420592	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28502504	0.86[EUR][1000 genomes]
rs28504661	0.86[EUR][1000 genomes]
rs28532945	0.89[EUR][1000 genomes]
rs28550027	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28648419	0.86[EUR][1000 genomes]
rs28704122	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28712025	0.86[EUR][1000 genomes]
rs28758777	0.86[EUR][1000 genomes]
rs9990571	0.86[EUR][1000 genomes]
rs9991086	0.86[EUR][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	nsv529623	chr4:98501338-99460166	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	esv2754250	chr4:99094922-99527122	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv879651	chr4:99105055-99441349	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1004181	chr4:99208152-99529576	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99397600-99439400	Weak transcription	Primary B cells from cord blood	blood
2	chr4:99417800-99438600	Weak transcription	Right Atrium	heart
3	chr4:99419600-99436400	Weak transcription	HUVEC	blood vessel
4	chr4:99420200-99435800	Weak transcription	Spleen	Spleen
5	chr4:99420400-99436400	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr4:99420400-99436400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr4:99423000-99434200	Weak transcription	Aorta	Aorta
8	chr4:99423000-99434200	Weak transcription	Esophagus	oesophagus
9	chr4:99425000-99436200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr4:99425600-99434200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr4:99430800-99433800	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr4:99431000-99435600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr4:99431200-99433600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr4:99431200-99434000	Weak transcription	Fetal Intestine Small	intestine
15	chr4:99431200-99436000	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr4:99431200-99436000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr4:99431200-99436200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:99431200-99439600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr4:99431200-99443600	Weak transcription	Fetal Brain Male	brain
20	chr4:99431400-99436200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:99431400-99436400	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr4:99431400-99436600	Weak transcription	Brain Germinal Matrix	brain
23	chr4:99431600-99433800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr4:99431600-99434000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr4:99431600-99435600	Weak transcription	K562	blood
26	chr4:99431600-99436000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr4:99431600-99436600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr4:99431800-99433400	Weak transcription	Fetal Heart	heart
29	chr4:99431800-99438600	Weak transcription	Stomach Mucosa	stomach
30	chr4:99432000-99435800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr4:99432200-99435600	Weak transcription	Fetal Thymus	thymus
32	chr4:99432200-99435800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr4:99432200-99435800	Weak transcription	Brain Anterior Caudate	brain
34	chr4:99432200-99436200	Weak transcription	HSMM	muscle
35	chr4:99432200-99436600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr4:99432200-99438600	Weak transcription	Brain Angular Gyrus	brain
37	chr4:99432400-99433600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr4:99432400-99434200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr4:99432400-99435800	Weak transcription	Primary hematopoietic stem cells	blood
40	chr4:99432400-99435800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr4:99432400-99436400	Weak transcription	Fetal Muscle Leg	muscle
42	chr4:99432400-99437000	Weak transcription	HSMMtube	muscle
43	chr4:99432600-99433600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr4:99432600-99433600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr4:99432600-99433600	Weak transcription	Ovary	ovary
46	chr4:99432600-99434000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr4:99432600-99434000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr4:99432600-99434200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr4:99432600-99434200	Weak transcription	Brain Substantia Nigra	brain
50	chr4:99432600-99434200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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