Variant report

Variant	rs17128114
Chromosome Location	chr1:86173116-86173117
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
ENSG00000142871	Chromatin interaction
ENSG00000153904	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	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17128025	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17128031	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17128041	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17128046	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17128058	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17128059	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17128061	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17128070	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17128074	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17128075	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17128078	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17128084	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17128098	0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17128109	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17128165	1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128173	1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128176	1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128181	1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128216	1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128220	1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128234	1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128240	1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128242	1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128243	1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128249	1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128271	0.92[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128273	0.92[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128279	0.92[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128284	0.92[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128287	0.92[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128290	0.92[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128302	0.92[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17395346	1.00[AFR][1000 genomes];0.96[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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86171600-86174600	Active TSS	GM12878-XiMat	blood
2	chr1:86171800-86173800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:86172000-86173400	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr1:86172000-86174800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:86172200-86173200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:86172200-86174600	Active TSS	K562	blood
7	chr1:86172200-86174600	Active TSS	NHLF	lung
8	chr1:86172400-86173200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
9	chr1:86172400-86173400	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr1:86172400-86173400	Flanking Active TSS	Primary T cells from cord blood	blood
11	chr1:86172400-86173400	Flanking Active TSS	Brain Cingulate Gyrus	brain
12	chr1:86172400-86173400	Flanking Active TSS	Dnd41	blood
13	chr1:86172400-86173600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:86172400-86173600	Flanking Active TSS	HUVEC	blood vessel
15	chr1:86172400-86173600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr1:86172400-86174000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr1:86172400-86174600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:86172400-86174800	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr1:86172400-86174800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:86172400-86175000	Active TSS	A549	lung
21	chr1:86172600-86173200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr1:86172600-86173200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
23	chr1:86172600-86173200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
24	chr1:86172600-86173200	Flanking Active TSS	Brain Anterior Caudate	brain
25	chr1:86172600-86173200	Flanking Active TSS	Brain Substantia Nigra	brain
26	chr1:86172600-86173200	Flanking Active TSS	NH-A	brain
27	chr1:86172600-86173400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
28	chr1:86172600-86173400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
29	chr1:86172600-86173400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
30	chr1:86172600-86173400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
31	chr1:86172600-86173400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:86172600-86173400	Flanking Active TSS	Brain Angular Gyrus	brain
33	chr1:86172600-86173400	Flanking Active TSS	Brain Hippocampus Middle	brain
34	chr1:86172600-86173400	Flanking Active TSS	Fetal Brain Male	brain
35	chr1:86172600-86173400	Flanking Active TSS	Fetal Brain Female	brain
36	chr1:86172600-86173400	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr1:86172600-86173400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr1:86172600-86173400	Flanking Active TSS	Stomach Smooth Muscle	stomach
39	chr1:86172600-86173400	Enhancers	Spleen	Spleen
40	chr1:86172600-86173400	Flanking Active TSS	Hela-S3	cervix
41	chr1:86172600-86173600	Flanking Active TSS	Primary B cells from peripheral blood	blood
42	chr1:86172600-86173600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr1:86172600-86173600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr1:86172600-86173600	Flanking Active TSS	Duodenum Mucosa	Duodenum
45	chr1:86172600-86173600	Flanking Active TSS	Fetal Lung	lung
46	chr1:86172600-86173800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
47	chr1:86172600-86173800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr1:86172600-86173800	Flanking Active TSS	Adipose Nuclei	Adipose
49	chr1:86172600-86173800	Flanking Active TSS	Liver	Liver
50	chr1:86172600-86173800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum

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