Variant report

Variant	rs17623771
Chromosome Location	chr8:6407162-6407163
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12541109	0.85[EUR][1000 genomes]
rs12546205	0.85[EUR][1000 genomes]
rs12547116	0.85[EUR][1000 genomes]
rs12549365	0.85[EUR][1000 genomes]
rs17553929	0.85[EUR][1000 genomes]
rs17553964	0.85[EUR][1000 genomes]
rs17623747	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17624399	0.85[EUR][1000 genomes]
rs2442549	0.85[EUR][1000 genomes]
rs2442550	0.85[EUR][1000 genomes]
rs2922826	0.85[EUR][1000 genomes]
rs3739390	0.82[EUR][1000 genomes]
rs55993125	0.85[EUR][1000 genomes]
rs56076232	0.85[EUR][1000 genomes]
rs56112478	0.85[EUR][1000 genomes]
rs73661407	0.85[EUR][1000 genomes]
rs7817104	0.85[EUR][1000 genomes]
rs7832816	0.85[EUR][1000 genomes]
rs7833871	0.85[EUR][1000 genomes]
rs7838154	0.81[EUR][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:71 , 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	chr8:6391600-6416400	Weak transcription	Primary B cells from peripheral blood	blood
10	chr8:6398200-6417200	Weak transcription	Brain Substantia Nigra	brain
11	chr8:6398800-6407600	Weak transcription	Lung	lung
12	chr8:6399000-6408000	Weak transcription	Brain Hippocampus Middle	brain
13	chr8:6400200-6415600	Weak transcription	Stomach Mucosa	stomach
14	chr8:6401000-6412200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr8:6401200-6407400	Weak transcription	Ovary	ovary
16	chr8:6404600-6407800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr8:6404600-6407800	Weak transcription	Psoas Muscle	Psoas
18	chr8:6404600-6411400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr8:6405400-6412200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr8:6405400-6417000	Weak transcription	Brain Anterior Caudate	brain
21	chr8:6405400-6417200	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr8:6405600-6407800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr8:6405800-6407600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr8:6405800-6408400	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr8:6405800-6408800	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr8:6405800-6409600	Weak transcription	HMEC	breast
27	chr8:6405800-6414200	Weak transcription	Dnd41	blood
28	chr8:6405800-6416600	Weak transcription	Adipose Nuclei	Adipose
29	chr8:6405800-6418400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr8:6405800-6419400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr8:6405800-6419400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr8:6406000-6407200	Weak transcription	NHLF	lung
33	chr8:6406000-6407400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr8:6406000-6407400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr8:6406000-6407600	Enhancers	NHDF-Ad	bronchial
36	chr8:6406000-6407800	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr8:6406000-6407800	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr8:6406000-6407800	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr8:6406000-6407800	Weak transcription	Right Atrium	heart
40	chr8:6406000-6409800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr8:6406000-6412200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr8:6406000-6414800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr8:6406000-6416000	Weak transcription	HSMM	muscle
44	chr8:6406000-6417400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr8:6406000-6417400	Weak transcription	Aorta	Aorta
46	chr8:6406200-6407200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr8:6406200-6407400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr8:6406200-6407600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr8:6406200-6407800	Weak transcription	Left Ventricle	heart
50	chr8:6406200-6408400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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