Variant report

Variant	rs72845058
Chromosome Location	chr6:27647420-27647421
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:27632657..27637879-chr6:27644957..27648332,5	K562	blood:
2	chr6:27634605..27637879-chr6:27644998..27648332,4	K562	blood:
3	chr6:26157578..26160001-chr6:27646646..27649152,2	MCF-7	breast:
4	chr6:27638628..27643322-chr6:27645901..27648389,5	K562	blood:
5	chr6:27644939..27650269-chr6:27651814..27657274,7	K562	blood:
6	chr6:27646424..27648439-chr6:27863200..27865949,2	K562	blood:

Variant related genes	Relation type
ENSG00000238610	Chromatin interaction
ENSG00000158373	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs17693877	0.86[EUR][1000 genomes]
rs56099947	0.81[AMR][1000 genomes]
rs59701161	0.80[EUR][1000 genomes]
rs60888769	0.81[AMR][1000 genomes]
rs71546544	0.81[AMR][1000 genomes]
rs72841397	0.81[AMR][1000 genomes]
rs72841398	0.81[AMR][1000 genomes]
rs72841399	0.81[AMR][1000 genomes]
rs72841400	0.81[AMR][1000 genomes]
rs72845006	0.81[AMR][1000 genomes]
rs72845008	0.81[AMR][1000 genomes]
rs72845011	0.81[AMR][1000 genomes]
rs72845012	0.81[AMR][1000 genomes]
rs72845016	0.89[AMR][1000 genomes]
rs72845025	0.81[AMR][1000 genomes]
rs72845027	0.81[AMR][1000 genomes]
rs72845028	0.81[AMR][1000 genomes]
rs72845030	0.81[AMR][1000 genomes]
rs72845031	0.81[AMR][1000 genomes]
rs72845032	0.89[AMR][1000 genomes]
rs72845042	0.81[AMR][1000 genomes]
rs72845044	0.81[AMR][1000 genomes]
rs72845050	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72845051	0.80[EUR][1000 genomes]
rs72845060	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72845061	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72845062	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72845064	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72845068	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs72845896	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs72847322	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs72847323	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs72847329	0.86[EUR][1000 genomes]
rs9380018	0.84[EUR][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:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27646000-27649000	Weak transcription	A549	lung
2	chr6:27646600-27647600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
3	chr6:27646600-27648600	Weak transcription	HepG2	liver
4	chr6:27646800-27649200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
5	chr6:27646800-27649800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
6	chr6:27646800-27649800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
7	chr6:27647000-27647600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr6:27647000-27647800	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr6:27647000-27647800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr6:27647000-27648400	Bivalent Enhancer	Placenta	Placenta
11	chr6:27647000-27648800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr6:27647000-27649000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
13	chr6:27647000-27649200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr6:27647000-27649600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
15	chr6:27647000-27649800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
16	chr6:27647000-27649800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
17	chr6:27647000-27650000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
18	chr6:27647200-27647800	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr6:27647200-27647800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
20	chr6:27647200-27647800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
21	chr6:27647200-27647800	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr6:27647200-27647800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr6:27647200-27648000	Bivalent Enhancer	Esophagus	oesophagus
24	chr6:27647200-27648200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr6:27647200-27648200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr6:27647200-27648200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
27	chr6:27647200-27648400	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr6:27647200-27648400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr6:27647200-27648600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr6:27647200-27648600	Bivalent/Poised TSS	NHEK	skin
31	chr6:27647200-27648800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
32	chr6:27647200-27648800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
33	chr6:27647200-27649000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr6:27647200-27649400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr6:27647200-27649400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
36	chr6:27647200-27649600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr6:27647200-27649600	Active TSS	Ovary	ovary
38	chr6:27647400-27647600	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr6:27647400-27647600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
40	chr6:27647400-27647600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
41	chr6:27647400-27647600	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr6:27647400-27647600	Bivalent Enhancer	Brain Germinal Matrix	brain
43	chr6:27647400-27647600	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
44	chr6:27647400-27647600	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
45	chr6:27647400-27647600	Bivalent Enhancer	Thymus	Thymus
46	chr6:27647400-27647600	Bivalent/Poised TSS	HUVEC	blood vessel
47	chr6:27647400-27647800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr6:27647400-27647800	Bivalent Enhancer	Fetal Stomach	stomach
49	chr6:27647400-27647800	ZNF genes & repeats	GM12878-XiMat	blood
50	chr6:27647400-27648000	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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