Variant report

Variant	rs17575721
Chromosome Location	chr1:226436170-226436171
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10915963	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11577454	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[YRI][hapmap];0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11579072	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11587767	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11802954	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11811952	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2169568	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28621419	0.88[AFR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4082281	0.82[ASN][1000 genomes]
rs57707220	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58149851	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs66950676	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67392783	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67440774	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67810611	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs68046363	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72762695	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72764505	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72764508	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7521958	1.00[CHB][hapmap];1.00[JPT][hapmap]

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	nsv832759	chr1:226303760-226504170	Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv2829936	chr1:226375267-226488826	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv517107	chr1:226375267-226508645	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv873233	chr1:226385623-226508645	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226412000-226449600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:226412000-226455400	Weak transcription	Ovary	ovary
3	chr1:226412000-226456200	Weak transcription	NH-A	brain
4	chr1:226412000-226460600	Weak transcription	Aorta	Aorta
5	chr1:226412200-226437200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:226412200-226448000	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr1:226412200-226456200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:226412200-226485400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr1:226412400-226442600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:226412400-226443000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr1:226412400-226443000	Weak transcription	Osteobl	bone
12	chr1:226412400-226446800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:226413000-226445000	Weak transcription	Fetal Muscle Trunk	muscle
14	chr1:226413000-226448600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:226413200-226456200	Weak transcription	NHDF-Ad	bronchial
16	chr1:226413600-226440600	Weak transcription	Thymus	Thymus
17	chr1:226413600-226447000	Weak transcription	Brain Germinal Matrix	brain
18	chr1:226413600-226447800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr1:226414000-226436600	Weak transcription	Fetal Muscle Leg	muscle
20	chr1:226414000-226456800	Weak transcription	Fetal Kidney	kidney
21	chr1:226414200-226447200	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr1:226414200-226454400	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr1:226414600-226457000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:226414800-226443000	Weak transcription	Placenta	Placenta
25	chr1:226414800-226484600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr1:226415400-226473800	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr1:226415600-226450000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr1:226415800-226495400	Weak transcription	Liver	Liver
29	chr1:226416200-226495600	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr1:226416400-226457400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr1:226416800-226443400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:226417000-226438000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr1:226417400-226440400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr1:226418200-226437200	Weak transcription	Left Ventricle	heart
35	chr1:226418400-226455400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr1:226418400-226484600	Weak transcription	Right Ventricle	heart
37	chr1:226418800-226437000	Weak transcription	Primary B cells from cord blood	blood
38	chr1:226421800-226438000	Weak transcription	Primary T cells from cord blood	blood
39	chr1:226421800-226457400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr1:226422000-226440200	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr1:226422800-226445000	Weak transcription	NHLF	lung
42	chr1:226423400-226436200	Weak transcription	Rectal Smooth Muscle	rectum
43	chr1:226424400-226449800	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr1:226425000-226437400	Weak transcription	HepG2	liver
45	chr1:226425000-226438000	Weak transcription	Primary B cells from peripheral blood	blood
46	chr1:226425000-226439600	Weak transcription	Brain Anterior Caudate	brain
47	chr1:226425000-226440000	Weak transcription	Adipose Nuclei	Adipose
48	chr1:226425000-226452200	Weak transcription	Stomach Smooth Muscle	stomach
49	chr1:226425000-226456200	Weak transcription	HMEC	breast
50	chr1:226425000-226456600	Weak transcription	NHEK	skin

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