Variant report

Variant	rs17127983
Chromosome Location	chr1:86089069-86089070
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:86045896..86049345-chr1:86088234..86091419,5	K562	blood:

Variant related genes	Relation type
ENSG00000142871	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs17127904	1.00[AFR][1000 genomes]
rs17127933	1.00[AFR][1000 genomes]
rs17127949	0.83[ASN][1000 genomes]
rs17127978	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17127986	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17127994	1.00[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs17128015	1.00[AFR][1000 genomes]
rs17128025	1.00[AFR][1000 genomes]
rs17128031	1.00[AFR][1000 genomes]
rs17128041	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17128078	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17128098	1.00[AFR][1000 genomes]
rs17128165	1.00[AFR][1000 genomes]
rs17128173	1.00[AFR][1000 genomes]
rs17128176	1.00[AFR][1000 genomes]
rs17128216	1.00[AFR][1000 genomes]
rs17128220	1.00[AFR][1000 genomes]
rs17128234	1.00[AFR][1000 genomes]
rs17128240	1.00[AFR][1000 genomes]
rs17128242	1.00[AFR][1000 genomes]
rs17128243	1.00[AFR][1000 genomes]
rs17128249	1.00[AFR][1000 genomes]
rs17128271	1.00[AFR][1000 genomes]
rs17128273	1.00[AFR][1000 genomes]
rs17128279	1.00[AFR][1000 genomes]
rs17128284	1.00[AFR][1000 genomes]
rs17128287	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs17128290	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17128302	1.00[AFR][1000 genomes]
rs6672587	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7512713	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7540592	1.00[JPT][hapmap]
rs9658588	1.00[AFR][1000 genomes]
rs9658592	1.00[AFR][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	nsv1000290	chr1:86078495-86105379	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86079200-86094400	Weak transcription	Pancreas	Pancrea
2	chr1:86083800-86095200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:86083800-86103200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr1:86084600-86092800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:86085800-86093200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr1:86087200-86089800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:86087400-86094400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr1:86087800-86089400	Strong transcription	Primary B cells from cord blood	blood
9	chr1:86087800-86089400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:86088000-86089400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
11	chr1:86088000-86089400	ZNF genes & repeats	Primary T cells from cord blood	blood
12	chr1:86088000-86090400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:86088200-86089400	Enhancers	HSMMtube	muscle
14	chr1:86088200-86089400	Enhancers	NHDF-Ad	bronchial
15	chr1:86088200-86089400	Enhancers	NHLF	lung
16	chr1:86088200-86089400	Enhancers	Osteobl	bone
17	chr1:86088200-86089600	Enhancers	Muscle Satellite Cultured Cells	--
18	chr1:86088200-86089600	Enhancers	NH-A	brain
19	chr1:86088200-86094400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:86088200-86101800	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr1:86088400-86089200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:86088400-86089400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
23	chr1:86088400-86089400	ZNF genes & repeats	Ovary	ovary
24	chr1:86088400-86094200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:86088400-86101400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:86088400-86102000	Weak transcription	Duodenum Mucosa	Duodenum
27	chr1:86088400-86103000	Weak transcription	Brain Hippocampus Middle	brain
28	chr1:86088600-86089200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:86088600-86089400	Enhancers	Placenta	Placenta
30	chr1:86088600-86089600	Enhancers	HSMM	muscle
31	chr1:86088600-86090400	Strong transcription	A549	lung
32	chr1:86088600-86091800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr1:86088600-86092200	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr1:86088600-86092400	Weak transcription	Psoas Muscle	Psoas
35	chr1:86088600-86094400	Weak transcription	Fetal Intestine Large	intestine
36	chr1:86088600-86094400	Weak transcription	Left Ventricle	heart
37	chr1:86088600-86094800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr1:86088600-86094800	Weak transcription	Right Ventricle	heart
39	chr1:86088600-86101800	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr1:86088600-86103000	Weak transcription	NHEK	skin
41	chr1:86088800-86089200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr1:86088800-86089400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
43	chr1:86088800-86090000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:86088800-86093000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr1:86088800-86093400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr1:86088800-86094200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr1:86088800-86094200	Weak transcription	Liver	Liver
48	chr1:86088800-86094400	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr1:86088800-86094400	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr1:86088800-86094400	Weak transcription	Fetal Muscle Leg	muscle

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