Variant report

Variant	rs17128109
Chromosome Location	chr1:86171885-86171886
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:86043660..86051626-chr1:86167839..86177430,17	K562	blood:
2	chr1:86046116..86050935-chr1:86168336..86177340,12	K562	blood:
3	chr1:86048055..86050244-chr1:86170828..86173299,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272691	Chromatin interaction
ENSG00000153904	Chromatin interaction
ENSG00000142871	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs17127994	0.91[ASN][1000 genomes]
rs17128015	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17128025	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17128031	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17128041	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17128046	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17128058	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17128059	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17128061	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17128070	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17128074	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17128075	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17128078	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17128084	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17128098	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17128114	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17128165	0.96[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128173	0.96[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128176	0.96[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128181	0.96[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128216	0.96[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128220	0.96[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128234	0.96[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128240	0.96[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128242	0.96[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128243	0.96[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128249	0.96[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128271	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128273	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128279	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128284	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128287	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128290	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128302	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17395346	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv3391173	chr1:86005637-86337469	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv817212	chr1:86127851-86658426	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv871471	chr1:86143084-86211516	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86103400-86173000	Weak transcription	Pancreas	Pancrea
2	chr1:86103600-86172600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:86103600-86172600	Weak transcription	Gastric	stomach
4	chr1:86117600-86172000	Weak transcription	Small Intestine	intestine
5	chr1:86119600-86172000	Weak transcription	Colonic Mucosa	Colon
6	chr1:86134200-86172600	Weak transcription	Right Ventricle	heart
7	chr1:86134600-86172400	Weak transcription	Stomach Mucosa	stomach
8	chr1:86135600-86172000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr1:86142600-86172600	Weak transcription	Thymus	Thymus
10	chr1:86142600-86172600	Weak transcription	Spleen	Spleen
11	chr1:86147000-86172600	Weak transcription	Brain Angular Gyrus	brain
12	chr1:86147200-86172000	Weak transcription	Fetal Kidney	kidney
13	chr1:86147200-86172600	Weak transcription	Psoas Muscle	Psoas
14	chr1:86147200-86172800	Weak transcription	Aorta	Aorta
15	chr1:86157800-86172600	Weak transcription	Fetal Intestine Small	intestine
16	chr1:86157800-86173000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:86158000-86173000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:86163000-86172000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr1:86163200-86172000	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr1:86163200-86172200	Strong transcription	HSMM	muscle
21	chr1:86163600-86172000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr1:86163800-86172000	Strong transcription	Primary B cells from peripheral blood	blood
23	chr1:86164200-86172000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:86164200-86172000	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr1:86164600-86172000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:86164800-86172000	Strong transcription	Osteobl	bone
27	chr1:86165400-86172000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:86165400-86172200	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr1:86165600-86172000	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr1:86165800-86172000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:86165800-86172000	Strong transcription	Adipose Nuclei	Adipose
32	chr1:86166000-86172000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr1:86166000-86172000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr1:86166200-86172000	Strong transcription	A549	lung
35	chr1:86166400-86172000	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr1:86166400-86172000	Weak transcription	Colon Smooth Muscle	Colon
37	chr1:86166400-86172000	Strong transcription	Placenta	Placenta
38	chr1:86166400-86172200	Strong transcription	Fetal Thymus	thymus
39	chr1:86166400-86172200	Strong transcription	Skeletal Muscle Female	skeletal muscle
40	chr1:86166600-86172000	Strong transcription	NHDF-Ad	bronchial
41	chr1:86166800-86172400	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr1:86166800-86172600	Weak transcription	HSMMtube	muscle
43	chr1:86167400-86172000	Strong transcription	Muscle Satellite Cultured Cells	--
44	chr1:86167600-86172000	Strong transcription	Liver	Liver
45	chr1:86167600-86172000	Weak transcription	Fetal Brain Female	brain
46	chr1:86167600-86172000	Strong transcription	Fetal Intestine Large	intestine
47	chr1:86167600-86172000	Strong transcription	Fetal Lung	lung
48	chr1:86167800-86172400	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr1:86167800-86173000	Weak transcription	Lung	lung
50	chr1:86168600-86172400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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