Variant report

Variant	rs17128041
Chromosome Location	chr1:86122177-86122178
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	chr1:86117515..86119531-chr1:86121414..86124189,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs17127983	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17127994	0.91[ASN][1000 genomes]
rs17128015	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17128025	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17128031	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17128046	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17128058	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17128059	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17128061	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17128070	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17128074	0.92[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17128075	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17128078	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17128084	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17128098	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17128109	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17128114	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17128165	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128173	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128176	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128181	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128216	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128220	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128234	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128240	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128242	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128243	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128249	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128271	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128273	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128279	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128284	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128287	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128290	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17128302	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17395346	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7512713	1.00[JPT][hapmap]
rs7540592	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86095400-86134800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:86103400-86173000	Weak transcription	Pancreas	Pancrea
3	chr1:86103600-86141200	Weak transcription	Thymus	Thymus
4	chr1:86103600-86142200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr1:86103600-86145400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:86103600-86145600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:86103600-86157400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:86103600-86172600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:86103600-86172600	Weak transcription	Gastric	stomach
10	chr1:86106000-86141200	Weak transcription	Lung	lung
11	chr1:86114000-86141200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr1:86114000-86143600	Weak transcription	Colon Smooth Muscle	Colon
13	chr1:86114400-86142200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr1:86114400-86163200	Weak transcription	Esophagus	oesophagus
15	chr1:86115200-86123400	Strong transcription	Primary B cells from peripheral blood	blood
16	chr1:86115200-86124800	Weak transcription	Brain Substantia Nigra	brain
17	chr1:86115200-86146800	Weak transcription	Psoas Muscle	Psoas
18	chr1:86115200-86167600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr1:86115400-86141000	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr1:86116000-86123400	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr1:86116400-86127000	Weak transcription	Fetal Kidney	kidney
22	chr1:86116400-86143600	Weak transcription	Brain Hippocampus Middle	brain
23	chr1:86116400-86146200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr1:86116600-86122200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr1:86116600-86123600	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr1:86116600-86129200	Weak transcription	Aorta	Aorta
27	chr1:86116600-86142200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:86116600-86145400	Weak transcription	Fetal Stomach	stomach
29	chr1:86116800-86124600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr1:86117000-86165800	Weak transcription	Fetal Brain Female	brain
31	chr1:86117400-86122400	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr1:86117400-86122800	Strong transcription	Dnd41	blood
33	chr1:86117400-86123200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr1:86117600-86172000	Weak transcription	Small Intestine	intestine
35	chr1:86117800-86122200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr1:86117800-86122800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr1:86118600-86122800	Strong transcription	Primary T cells from cord blood	blood
38	chr1:86118800-86122200	Strong transcription	Primary B cells from cord blood	blood
39	chr1:86118800-86123600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr1:86119200-86123400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:86119200-86133000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:86119200-86142200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr1:86119200-86142200	Weak transcription	Placenta	Placenta
44	chr1:86119400-86122600	Weak transcription	Spleen	Spleen
45	chr1:86119400-86125800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr1:86119400-86128800	Weak transcription	Fetal Intestine Small	intestine
47	chr1:86119400-86134000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr1:86119400-86135800	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr1:86119400-86140600	Weak transcription	Duodenum Mucosa	Duodenum
50	chr1:86119400-86140800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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