Variant report

Variant	rs28469250
Chromosome Location	chr6:132146156-132146157
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:132126408..132129461-chr6:132143783..132146279,4	MCF-7	breast:
2	chr6:132126867..132133246-chr6:132138030..132146402,10	MCF-7	breast:
3	chr6:132141202..132144073-chr6:132145650..132147545,3	K562	blood:
4	chr6:132144383..132146535-chr6:132147626..132150025,2	K562	blood:
5	chr6:132144023..132146678-chr6:132164054..132166983,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000200895	Chromatin interaction
ENSG00000219532	Chromatin interaction
ENSG00000197594	Chromatin interaction
ENSG00000237115	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs45488997	1.00[AMR][1000 genomes]
rs9493108	0.87[AFR][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	nsv515476	chr6:131615425-132228577	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv7968	chr6:131917172-132321099	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv886670	chr6:132071193-132193395	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
4	nsv886671	chr6:132071193-132203432	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132132200-132148800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr6:132132200-132157800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr6:132132800-132162400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr6:132132800-132162800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr6:132136800-132160200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr6:132138200-132147400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr6:132138200-132148400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr6:132138600-132163000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:132139400-132149000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr6:132140600-132147200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr6:132141000-132176000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:132141200-132152000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr6:132141200-132158000	Weak transcription	Aorta	Aorta
14	chr6:132141400-132147200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr6:132141400-132149000	Weak transcription	NHDF-Ad	bronchial
16	chr6:132141600-132147200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr6:132141600-132151600	Weak transcription	Fetal Muscle Leg	muscle
18	chr6:132141600-132172000	Weak transcription	HSMM	muscle
19	chr6:132141800-132147800	Enhancers	HepG2	liver
20	chr6:132142400-132147200	Weak transcription	Fetal Stomach	stomach
21	chr6:132143000-132147200	Weak transcription	NHLF	lung
22	chr6:132143200-132157800	Weak transcription	Fetal Intestine Small	intestine
23	chr6:132144200-132147000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr6:132144200-132149600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr6:132144400-132146400	Weak transcription	Liver	Liver
26	chr6:132144600-132149000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr6:132145000-132146800	Weak transcription	Osteobl	bone
28	chr6:132145000-132147200	Weak transcription	Gastric	stomach
29	chr6:132145000-132147600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr6:132145000-132149800	Weak transcription	Fetal Thymus	thymus
31	chr6:132145600-132147200	Weak transcription	Pancreas	Pancrea
32	chr6:132145600-132147400	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr6:132145600-132148800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr6:132145600-132148800	Weak transcription	Placenta	Placenta
35	chr6:132145600-132150800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr6:132145800-132171800	Weak transcription	H1 Cell Line	embryonic stem cell

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