Variant report

Variant	rs17128070
Chromosome Location	chr1:86135690-86135691
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:86133885..86136309-chr1:86137649..86139478,2	K562	blood:
2	chr1:86126911..86128564-chr1:86134890..86136596,2	K562	blood:

Extended variants
information (count: 38 )
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]
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]
rs17128109	1.00[AFR][1000 genomes];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:3 , 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

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86103400-86173000	Weak transcription	Pancreas	Pancrea
2	chr1:86103600-86141200	Weak transcription	Thymus	Thymus
3	chr1:86103600-86142200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr1:86103600-86145400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:86103600-86145600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:86103600-86157400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:86103600-86172600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:86103600-86172600	Weak transcription	Gastric	stomach
9	chr1:86106000-86141200	Weak transcription	Lung	lung
10	chr1:86114000-86141200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr1:86114000-86143600	Weak transcription	Colon Smooth Muscle	Colon
12	chr1:86114400-86142200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr1:86114400-86163200	Weak transcription	Esophagus	oesophagus
14	chr1:86115200-86146800	Weak transcription	Psoas Muscle	Psoas
15	chr1:86115200-86167600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr1:86115400-86141000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr1:86116400-86143600	Weak transcription	Brain Hippocampus Middle	brain
18	chr1:86116400-86146200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr1:86116600-86142200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:86116600-86145400	Weak transcription	Fetal Stomach	stomach
21	chr1:86117000-86165800	Weak transcription	Fetal Brain Female	brain
22	chr1:86117600-86172000	Weak transcription	Small Intestine	intestine
23	chr1:86119200-86142200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr1:86119200-86142200	Weak transcription	Placenta	Placenta
25	chr1:86119400-86135800	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr1:86119400-86140600	Weak transcription	Duodenum Mucosa	Duodenum
27	chr1:86119400-86140800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr1:86119400-86142200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr1:86119400-86142200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr1:86119400-86143400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr1:86119600-86138800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr1:86119600-86140600	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr1:86119600-86142200	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr1:86119600-86157800	Weak transcription	Hela-S3	cervix
35	chr1:86119600-86172000	Weak transcription	Colonic Mucosa	Colon
36	chr1:86119800-86139600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr1:86119800-86171800	Weak transcription	Fetal Brain Male	brain
38	chr1:86120000-86135800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr1:86120000-86136200	Weak transcription	Adipose Nuclei	Adipose
40	chr1:86120000-86138800	Weak transcription	Fetal Thymus	thymus
41	chr1:86120000-86140000	Weak transcription	Left Ventricle	heart
42	chr1:86120000-86140600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr1:86120000-86141000	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr1:86120000-86142000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr1:86120000-86142000	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr1:86120200-86144000	Weak transcription	Brain Anterior Caudate	brain
47	chr1:86120200-86146200	Weak transcription	Brain Angular Gyrus	brain
48	chr1:86120600-86139800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr1:86120600-86140000	Weak transcription	HSMMtube	muscle
50	chr1:86120800-86135800	Weak transcription	Fetal Muscle Trunk	muscle

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