Variant report

Variant	rs57928913
Chromosome Location	chr8:42949811-42949812
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:42949727..42953413-chr8:42957343..42960322,3	K562	blood:
2	chr8:42750799..42753603-chr8:42948649..42950323,2	MCF-7	breast:
3	chr8:42909717..42915258-chr8:42945286..42950388,10	K562	blood:
4	chr8:42947110..42950521-chr8:43131245..43133918,5	K562	blood:
5	chr8:42946558..42950569-chr8:42993092..42998053,7	MCF-7	breast:
6	chr8:42945466..42950308-chr8:42993029..42998171,6	K562	blood:
7	chr8:42947374..42951238-chr8:42993087..42998137,7	MCF-7	breast:
8	chr8:42946276..42950766-chr8:42994093..42997306,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000165102	Chromatin interaction
ENSG00000266044	Chromatin interaction
ENSG00000168522	Chromatin interaction
ENSG00000234713	Chromatin interaction
ENSG00000168172	Chromatin interaction
ENSG00000120925	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11991073	0.87[AFR][1000 genomes]
rs11995111	0.84[AFR][1000 genomes]
rs2230266	0.87[AFR][1000 genomes]
rs36071326	1.00[AFR][1000 genomes]
rs57660488	1.00[AFR][1000 genomes]
rs58298514	0.80[AFR][1000 genomes]
rs59791313	1.00[AFR][1000 genomes]
rs73627289	0.85[AFR][1000 genomes]
rs73627301	0.89[AFR][1000 genomes]
rs73629105	0.89[AFR][1000 genomes]
rs73629119	0.89[AFR][1000 genomes]
rs73629175	1.00[AFR][1000 genomes]
rs73629201	1.00[AFR][1000 genomes]
rs73631569	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890846	chr8:42625663-43240123	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1024688	chr8:42709414-43333639	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
3	nsv539563	chr8:42709414-43333639	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	nsv1033927	chr8:42748842-43575771	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
5	nsv533812	chr8:42755447-43528350	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
6	nsv1032781	chr8:42772394-43461484	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
7	nsv1021281	chr8:42807619-43472678	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
8	nsv429912	chr8:42852444-43701143	ZNF genes & repeats Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
9	nsv869499	chr8:42858608-43541986	Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
10	nsv916847	chr8:42858611-43541984	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
11	nsv1027779	chr8:42863024-43729296	Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
12	nsv1025336	chr8:42905623-43333638	ZNF genes & repeats Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
13	nsv539564	chr8:42905623-43333638	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
14	nsv831302	chr8:42909483-43105520	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
15	nsv1029380	chr8:42924737-43729296	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
16	nsv539565	chr8:42924737-43729296	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
17	nsv1021734	chr8:42936943-43824036	Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
18	nsv470208	chr8:42937608-43791691	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
19	nsv1021100	chr8:42938287-43333639	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
20	nsv539566	chr8:42938287-43333639	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
21	nsv1035031	chr8:42940043-43575771	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
22	nsv1031842	chr8:42940043-43729296	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42947200-42950000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr8:42947200-42950000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr8:42947200-42950000	Active TSS	Right Atrium	heart
4	chr8:42947200-42950000	Active TSS	NHDF-Ad	bronchial
5	chr8:42947200-42950800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr8:42947200-42950800	Active TSS	NHLF	lung
7	chr8:42947400-42950000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:42947400-42950000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr8:42947600-42950000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr8:42947600-42950200	Active TSS	Colonic Mucosa	Colon
11	chr8:42947600-42950200	Active TSS	Ovary	ovary
12	chr8:42948000-42950000	Active TSS	H9 Cell Line	embryonic stem cell
13	chr8:42948000-42950000	Active TSS	Fetal Kidney	kidney
14	chr8:42948000-42950200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr8:42948200-42950200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr8:42948400-42950000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr8:42948400-42950000	Active TSS	Fetal Muscle Leg	muscle
18	chr8:42948400-42950000	Active TSS	HSMM	muscle
19	chr8:42948600-42950000	Active TSS	H1 Cell Line	embryonic stem cell
20	chr8:42948600-42950000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:42948600-42950000	Active TSS	Muscle Satellite Cultured Cells	--
22	chr8:42948600-42950000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr8:42948600-42950200	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr8:42948600-42950400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr8:42948600-42950400	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr8:42948600-42950400	Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr8:42949000-42950000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr8:42949200-42951000	Weak transcription	Gastric	stomach
29	chr8:42949200-42951000	Weak transcription	Spleen	Spleen
30	chr8:42949400-42950000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
31	chr8:42949400-42950000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
32	chr8:42949400-42950000	Flanking Active TSS	Duodenum Mucosa	Duodenum
33	chr8:42949400-42950000	Weak transcription	Esophagus	oesophagus
34	chr8:42949400-42950000	Weak transcription	Left Ventricle	heart
35	chr8:42949400-42950000	Flanking Active TSS	Thymus	Thymus
36	chr8:42949400-42950200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr8:42949400-42950200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr8:42949400-42950200	Flanking Active TSS	HUVEC	blood vessel
39	chr8:42949400-42950200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr8:42949400-42950400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
41	chr8:42949400-42950400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr8:42949400-42950400	Flanking Active TSS	Adipose Nuclei	Adipose
43	chr8:42949400-42951000	Weak transcription	Pancreas	Pancrea
44	chr8:42949400-42951600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr8:42949400-42953200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr8:42949400-42957000	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr8:42949600-42950000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr8:42949600-42950000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr8:42949600-42950000	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr8:42949600-42950000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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