Variant report

Variant	rs7533889
Chromosome Location	chr1:171221021-171221022
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10912616	0.87[ASN][1000 genomes]
rs12065544	0.85[ASN][1000 genomes]
rs12402732	0.87[ASN][1000 genomes]
rs12403890	0.87[ASN][1000 genomes]
rs12720462	0.89[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs16864174	0.89[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs16864177	0.90[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs16864194	0.81[ASN][1000 genomes]
rs16864216	0.90[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs1987921	0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1987944	0.87[ASN][1000 genomes]
rs2020863	0.89[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs2049920	0.89[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs2064077	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2072755	0.89[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs2075988	0.89[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs2179106	0.87[ASN][1000 genomes]
rs28369891	0.81[ASN][1000 genomes]
rs28369914	0.83[CHB][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs3861947	0.85[ASN][1000 genomes]
rs4073692	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4073693	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4622096	0.99[ASN][1000 genomes]
rs4631734	0.90[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs4916273	0.83[JPT][hapmap]
rs56370691	0.84[ASN][1000 genomes]
rs57305992	0.87[ASN][1000 genomes]
rs61815363	0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs61815421	0.87[ASN][1000 genomes]
rs61815423	0.87[ASN][1000 genomes]
rs61815424	0.87[ASN][1000 genomes]
rs61815425	0.87[ASN][1000 genomes]
rs61815427	0.87[ASN][1000 genomes]
rs72714167	0.87[ASN][1000 genomes]
rs7535210	0.88[ASN][1000 genomes]
rs7551934	0.90[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001228	chr1:170885787-171452579	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1005902	chr1:171036690-171254916	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv535203	chr1:171036690-171254916	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	esv10193	chr1:171128845-171414611	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv831882	chr1:171166224-171326083	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171217600-171221200	Active TSS	Fetal Intestine Large	intestine
2	chr1:171219600-171221200	Active TSS	Fetal Lung	lung
3	chr1:171220000-171221200	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr1:171220200-171221200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:171220200-171221200	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr1:171220200-171221200	Active TSS	Brain Cingulate Gyrus	brain
7	chr1:171220200-171221200	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr1:171220200-171221200	Active TSS	K562	blood
9	chr1:171220200-171221200	Flanking Active TSS	NHEK	skin
10	chr1:171220200-171221200	Active TSS	NHLF	lung
11	chr1:171220200-171221200	Active TSS	Osteobl	bone
12	chr1:171220200-171221400	Active TSS	Right Ventricle	heart
13	chr1:171220200-171221800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
14	chr1:171220400-171221200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:171220400-171221200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
16	chr1:171220400-171221200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:171220400-171221200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:171220400-171221200	Bivalent/Poised TSS	Brain Anterior Caudate	brain
19	chr1:171220400-171221200	Active TSS	Brain Substantia Nigra	brain
20	chr1:171220400-171221200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
21	chr1:171220400-171221200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
22	chr1:171220400-171221200	Active TSS	Fetal Brain Female	brain
23	chr1:171220400-171221200	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
24	chr1:171220400-171221200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
25	chr1:171220400-171221200	Active TSS	Ovary	ovary
26	chr1:171220400-171221200	Active TSS	Psoas Muscle	Psoas
27	chr1:171220400-171221200	Active TSS	Rectal Smooth Muscle	rectum
28	chr1:171220400-171221200	Active TSS	Right Atrium	heart
29	chr1:171220400-171221200	Bivalent/Poised TSS	A549	lung
30	chr1:171220400-171221200	Flanking Active TSS	GM12878-XiMat	blood
31	chr1:171220400-171221200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
32	chr1:171220600-171221200	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr1:171220600-171221200	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:171220600-171221200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:171220600-171221200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr1:171220600-171221200	Active TSS	Adipose Nuclei	Adipose
37	chr1:171220600-171221200	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
38	chr1:171220600-171221200	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
39	chr1:171220600-171221200	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr1:171220600-171221200	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
41	chr1:171220800-171221200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr1:171220800-171221200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr1:171220800-171221200	Flanking Active TSS	Primary B cells from peripheral blood	blood
44	chr1:171220800-171221200	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
45	chr1:171220800-171221200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr1:171220800-171221200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr1:171220800-171221200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr1:171220800-171221200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr1:171220800-171221200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr1:171220800-171221200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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