Variant report

Variant	rs12114571
Chromosome Location	chr8:6406745-6406746
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:6405547..6408006-chr8:6408375..6411218,3	K562	blood:
2	chr8:6405224..6409336-chr8:6413306..6416659,4	K562	blood:
3	chr8:6404729..6406920-chr8:6412870..6416150,3	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11992336	1.00[AMR][1000 genomes]
rs2911993	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890034	chr8:5926632-6427868	Enhancers Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1021175	chr8:5965453-6880364	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1027682	chr8:6018123-6920312	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	esv3506199	chr8:6116693-6536592	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
5	esv3506200	chr8:6116693-6536592	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
6	nsv933282	chr8:6261036-6440592	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1015981	chr8:6286575-6578450	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
8	nsv1027313	chr8:6286575-6920312	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats 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	37 gene(s)	inside rSNPs	diseases
9	nsv890057	chr8:6317165-6427868	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1021684	chr8:6350091-6809455	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
11	nsv1022895	chr8:6355213-6414874	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
12	nsv933260	chr8:6357124-6410013	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
13	esv2422383	chr8:6362389-6781593	Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
14	nsv610004	chr8:6402366-6772913	Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6342400-6421400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr8:6364200-6417200	Weak transcription	Fetal Kidney	kidney
3	chr8:6364200-6478200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr8:6367200-6417000	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr8:6373600-6420200	Weak transcription	Esophagus	oesophagus
6	chr8:6374800-6408800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr8:6377400-6414600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:6386200-6417400	Weak transcription	Pancreas	Pancrea
9	chr8:6390400-6407000	Weak transcription	Gastric	stomach
10	chr8:6391600-6416400	Weak transcription	Primary B cells from peripheral blood	blood
11	chr8:6398200-6417200	Weak transcription	Brain Substantia Nigra	brain
12	chr8:6398400-6407000	Weak transcription	Spleen	Spleen
13	chr8:6398800-6407600	Weak transcription	Lung	lung
14	chr8:6399000-6408000	Weak transcription	Brain Hippocampus Middle	brain
15	chr8:6400200-6415600	Weak transcription	Stomach Mucosa	stomach
16	chr8:6401000-6407000	Weak transcription	Right Ventricle	heart
17	chr8:6401000-6412200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr8:6401200-6407000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr8:6401200-6407400	Weak transcription	Ovary	ovary
20	chr8:6404600-6407800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr8:6404600-6407800	Weak transcription	Psoas Muscle	Psoas
22	chr8:6404600-6411400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:6405400-6412200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr8:6405400-6417000	Weak transcription	Brain Anterior Caudate	brain
25	chr8:6405400-6417200	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr8:6405600-6407800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr8:6405800-6407000	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr8:6405800-6407600	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr8:6405800-6408400	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr8:6405800-6408800	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr8:6405800-6409600	Weak transcription	HMEC	breast
32	chr8:6405800-6414200	Weak transcription	Dnd41	blood
33	chr8:6405800-6416600	Weak transcription	Adipose Nuclei	Adipose
34	chr8:6405800-6418400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr8:6405800-6419400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr8:6405800-6419400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr8:6406000-6406800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr8:6406000-6406800	Enhancers	HUVEC	blood vessel
39	chr8:6406000-6407000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr8:6406000-6407000	Weak transcription	Thymus	Thymus
41	chr8:6406000-6407200	Weak transcription	NHLF	lung
42	chr8:6406000-6407400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr8:6406000-6407400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr8:6406000-6407600	Enhancers	NHDF-Ad	bronchial
45	chr8:6406000-6407800	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr8:6406000-6407800	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr8:6406000-6407800	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr8:6406000-6407800	Weak transcription	Right Atrium	heart
49	chr8:6406000-6409800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr8:6406000-6412200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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