Variant report

Variant	rs7748053
Chromosome Location	chr6:144585022-144585023
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:144584007..144585940-chr6:144587463..144589189,2	K562	blood:
2	chr6:144417225..144419515-chr6:144583886..144585730,2	MCF-7	breast:
3	chr6:144584440..144585949-chr6:144587463..144589405,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17073557	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs56817389	1.00[ASN][1000 genomes]
rs56957762	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7747486	0.96[ASN][1000 genomes]
rs7753308	1.00[CEU][hapmap]
rs7771665	1.00[CEU][hapmap]
rs9484853	0.84[ASN][1000 genomes]
rs9484861	1.00[ASN][1000 genomes]
rs9496909	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9496976	1.00[CEU][hapmap]

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	nsv830831	chr6:144501371-144649509	Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv830832	chr6:144572378-144759023	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv2422260	chr6:144574591-144731630	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144569800-144585200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr6:144581600-144587200	Weak transcription	Brain Germinal Matrix	brain
3	chr6:144582000-144585200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr6:144582200-144585600	Weak transcription	Fetal Intestine Large	intestine
5	chr6:144582600-144587400	Weak transcription	Ovary	ovary
6	chr6:144584000-144585400	Weak transcription	Pancreas	Pancrea
7	chr6:144584000-144585400	Enhancers	HepG2	liver
8	chr6:144584200-144587400	Weak transcription	Right Ventricle	heart
9	chr6:144584400-144587200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr6:144584600-144585200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:144584600-144585400	Enhancers	HSMM	muscle
12	chr6:144584600-144585600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr6:144584600-144585600	Enhancers	Osteobl	bone
14	chr6:144584600-144585800	Enhancers	HSMMtube	muscle
15	chr6:144584600-144586200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr6:144584600-144587800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr6:144584600-144587800	Enhancers	HUVEC	blood vessel
18	chr6:144584800-144585200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr6:144584800-144585200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr6:144584800-144585600	Enhancers	Muscle Satellite Cultured Cells	--
21	chr6:144584800-144585800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr6:144584800-144586000	Enhancers	NHDF-Ad	bronchial
23	chr6:144584800-144586200	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr6:144584800-144587000	Flanking Active TSS	A549	lung
25	chr6:144584800-144587200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr6:144585000-144585200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr6:144585000-144585600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr6:144585000-144585600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr6:144585000-144585800	Enhancers	NH-A	brain
30	chr6:144585000-144586000	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr6:144585000-144586000	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr6:144585000-144586400	Enhancers	H9 Cell Line	embryonic stem cell
33	chr6:144585000-144586400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr6:144585000-144586400	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr6:144585000-144586600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr6:144585000-144586800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr6:144585000-144586800	Enhancers	NHEK	skin
38	chr6:144585000-144587200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr6:144585000-144587200	Enhancers	Hela-S3	cervix
40	chr6:144585000-144587400	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr6:144585000-144587600	Enhancers	Fetal Intestine Small	intestine
42	chr6:144585000-144587600	Enhancers	HMEC	breast
43	chr6:144585000-144587800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr6:144585000-144587800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr6:144585000-144587800	Enhancers	Fetal Heart	heart
46	chr6:144585000-144587800	Enhancers	Fetal Muscle Leg	muscle
47	chr6:144585000-144587800	Enhancers	NHLF	lung

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