Variant report

Variant	rs28607362
Chromosome Location	chr3:48502811-48502812
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:48486886..48491367-chr3:48500074..48506067,6	K562	blood:
2	chr3:48486148..48488610-chr3:48500568..48503394,2	MCF-7	breast:
3	chr3:48500633..48504132-chr3:48506064..48508496,3	K562	blood:
4	chr3:48499115..48502193-chr3:48502794..48505644,3	K562	blood:
5	chr3:48480426..48482624-chr3:48500836..48502866,2	MCF-7	breast:
6	chr3:48498934..48503338-chr3:48504611..48507641,8	MCF-7	breast:
7	chr3:48499666..48503460-chr3:48503849..48508877,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164053	Chromatin interaction
ENSG00000232112	Chromatin interaction
ENSG00000213689	Chromatin interaction
ENSG00000244380	Chromatin interaction
ENSG00000164051	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs13433990	1.00[AFR][1000 genomes]
rs9829727	0.87[AFR][1000 genomes]
rs9848493	1.00[AFR][1000 genomes]
rs9872722	1.00[AFR][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	nsv834684	chr3:48385699-48589323	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv590242	chr3:48433635-48556339	Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	esv1802114	chr3:48498822-48577670	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 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	chr3:48489200-48506200	Weak transcription	Stomach Mucosa	stomach
2	chr3:48489200-48507400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr3:48489600-48506400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:48489800-48506600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr3:48491000-48503200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr3:48491400-48503000	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr3:48491400-48503000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
8	chr3:48491400-48503200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr3:48491400-48503200	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr3:48491400-48506600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr3:48491600-48503000	Strong transcription	Adipose Nuclei	Adipose
12	chr3:48491600-48503200	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr3:48491800-48503200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr3:48491800-48506400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr3:48492000-48503200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr3:48492000-48503200	Strong transcription	Liver	Liver
17	chr3:48492000-48503600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr3:48492200-48503200	Strong transcription	Thymus	Thymus
19	chr3:48492200-48503400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr3:48492200-48503400	Strong transcription	Fetal Stomach	stomach
21	chr3:48492400-48503000	Strong transcription	H1 Cell Line	embryonic stem cell
22	chr3:48492400-48503000	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr3:48492600-48503000	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr3:48492600-48503000	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr3:48492600-48503000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr3:48492600-48503000	Strong transcription	Brain Germinal Matrix	brain
27	chr3:48492600-48503000	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr3:48492600-48503200	Strong transcription	Primary T cells from cord blood	blood
29	chr3:48492600-48503200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr3:48492600-48503200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr3:48492600-48503200	Strong transcription	Dnd41	blood
32	chr3:48492600-48503400	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr3:48492600-48503600	Strong transcription	H9 Cell Line	embryonic stem cell
34	chr3:48492600-48504400	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr3:48492600-48505800	Strong transcription	Fetal Muscle Leg	muscle
36	chr3:48492600-48506000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr3:48492800-48503000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr3:48492800-48503000	Strong transcription	Brain Anterior Caudate	brain
39	chr3:48492800-48503000	Strong transcription	Duodenum Mucosa	Duodenum
40	chr3:48492800-48503000	Strong transcription	Fetal Intestine Large	intestine
41	chr3:48492800-48503000	Strong transcription	GM12878-XiMat	blood
42	chr3:48492800-48503200	Strong transcription	Left Ventricle	heart
43	chr3:48492800-48503200	Strong transcription	Osteobl	bone
44	chr3:48492800-48503400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr3:48492800-48503400	Strong transcription	Fetal Thymus	thymus
46	chr3:48492800-48506000	Strong transcription	Fetal Muscle Trunk	muscle
47	chr3:48493000-48503400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr3:48493200-48503000	Strong transcription	Brain Inferior Temporal Lobe	brain
49	chr3:48493200-48503000	Strong transcription	Ovary	ovary
50	chr3:48493200-48506400	Weak transcription	Fetal Heart	heart

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