Variant report

Variant	rs73385132
Chromosome Location	chr6:27638567-27638568
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:27638059..27640499-chr6:27771985..27774359,2	MCF-7	breast:
2	chr6:27521716..27523597-chr6:27638518..27641412,2	K562	blood:
3	chr6:27636377..27638707-chr6:28318162..28320333,2	K562	blood:
4	chr6:27520667..27523597-chr6:27638518..27640163,2	K562	blood:
5	chr6:27114631..27116159-chr6:27636447..27639406,2	K562	blood:
6	chr6:27630813..27632433-chr6:27638083..27640183,2	K562	blood:
7	chr6:27264234..27265943-chr6:27637252..27639333,2	K562	blood:
8	chr6:27638511..27640202-chr6:27651089..27652641,2	K562	blood:
9	chr6:27635489..27641593-chr6:27648456..27655439,10	K562	blood:
10	chr6:27638340..27640249-chr6:27659440..27661461,2	K562	blood:
11	chr6:27636112..27637828-chr6:27637904..27639437,2	K562	blood:
12	chr6:27638297..27640693-chr6:27651718..27653720,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000265565	Chromatin interaction
ENSG00000184825	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs16867892	1.00[AMR][1000 genomes]
rs6922926	0.89[AFR][1000 genomes]
rs73383130	1.00[AMR][1000 genomes]
rs73383133	1.00[AMR][1000 genomes]
rs73383147	1.00[AMR][1000 genomes]
rs73384335	0.89[AFR][1000 genomes]
rs73385127	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73385144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73387079	1.00[AFR][1000 genomes]
rs73387082	1.00[AFR][1000 genomes]
rs73389013	0.89[AFR][1000 genomes]
rs73389015	0.89[AFR][1000 genomes]
rs73389035	0.89[AFR][1000 genomes]
rs7751576	0.89[AFR][1000 genomes]
rs7769956	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022797	chr6:27396961-27864277	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	390 gene(s)	inside rSNPs	diseases
2	nsv883510	chr6:27550712-27730064	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
3	nsv1023673	chr6:27570731-27688782	Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv830618	chr6:27593274-27789605	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
5	nsv1031337	chr6:27596676-27734884	Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
6	nsv525669	chr6:27623511-27657647	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv883511	chr6:27623511-27660508	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
8	esv2830157	chr6:27634640-27657647	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	nsv518945	chr6:27634640-27668013	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	28 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	chr6:27634600-27640800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:27634800-27638800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr6:27634800-27639400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
4	chr6:27634800-27640000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr6:27634800-27641400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr6:27635200-27639200	Active TSS	A549	lung
7	chr6:27635200-27641200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr6:27635400-27639200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
9	chr6:27635400-27639400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
10	chr6:27636200-27638800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:27637400-27638600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr6:27637600-27638600	Active TSS	NHDF-Ad	bronchial
13	chr6:27637600-27639200	Active TSS	HepG2	liver
14	chr6:27637800-27638600	Enhancers	NH-A	brain
15	chr6:27637800-27640600	Active TSS	Ovary	ovary
16	chr6:27638000-27638600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr6:27638000-27638800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr6:27638000-27639000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr6:27638000-27639200	Active TSS	Hela-S3	cervix
20	chr6:27638000-27639200	Enhancers	Osteobl	bone
21	chr6:27638000-27639400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr6:27638000-27640200	Enhancers	Adipose Nuclei	Adipose
23	chr6:27638000-27640400	Weak transcription	Right Atrium	heart
24	chr6:27638000-27640600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr6:27638000-27640800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr6:27638000-27641200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr6:27638000-27641200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr6:27638000-27641400	Active TSS	H9 Cell Line	embryonic stem cell
29	chr6:27638200-27638600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr6:27638200-27638600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr6:27638200-27638600	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr6:27638200-27638600	Active TSS	GM12878-XiMat	blood
33	chr6:27638200-27639200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr6:27638200-27639200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr6:27638200-27641400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
36	chr6:27638400-27638600	Flanking Active TSS	HMEC	breast
37	chr6:27638400-27638600	Active TSS	HUVEC	blood vessel
38	chr6:27638400-27638600	Active TSS	NHEK	skin
39	chr6:27638400-27638800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr6:27638400-27638800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr6:27638400-27639200	Active TSS	K562	blood
42	chr6:27638400-27639800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr6:27638400-27640000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr6:27638400-27640400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr6:27638400-27641200	Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr6:27638400-27641400	Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr6:27638400-27641400	Active TSS	H1 Cell Line	embryonic stem cell

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