Variant report

Variant	rs7515673
Chromosome Location	chr1:225801554-225801555
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	chr1:225799000..225801839-chr1:225807483..225809407,2	K562	blood:
2	chr1:225800166..225801810-chr1:225805052..225806586,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11801322	0.94[AFR][1000 genomes]
rs11808089	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28617210	0.87[AFR][1000 genomes]
rs55865602	0.81[AFR][1000 genomes]
rs55893672	0.82[AFR][1000 genomes]
rs57616580	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58221350	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58384340	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59481688	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60271197	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60588592	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6426081	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6666276	0.93[ASW][hapmap];1.00[GIH][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6687755	0.94[AFR][1000 genomes]
rs6687947	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6696683	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6698989	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6702446	1.00[ASN][1000 genomes]
rs73124025	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73125705	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73125706	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73125707	0.80[AFR][1000 genomes]
rs7531033	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7555097	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv832714	chr1:225592333-225805396	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS 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 target site	20 gene(s)	inside rSNPs	diseases
2	nsv832725	chr1:225726998-225910121	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225760000-225820600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:225768800-225805600	Weak transcription	Aorta	Aorta
3	chr1:225780800-225815400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:225781000-225825400	Weak transcription	Fetal Stomach	stomach
5	chr1:225782400-225806200	Weak transcription	Right Ventricle	heart
6	chr1:225784200-225807800	Weak transcription	Fetal Brain Male	brain
7	chr1:225791600-225802000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:225792000-225805000	Weak transcription	NHDF-Ad	bronchial
9	chr1:225793600-225813200	Weak transcription	Left Ventricle	heart
10	chr1:225793600-225813800	Weak transcription	NH-A	brain
11	chr1:225794600-225813200	Weak transcription	Lung	lung
12	chr1:225795000-225806000	Weak transcription	Small Intestine	intestine
13	chr1:225795600-225802200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr1:225795600-225805000	Weak transcription	HSMMtube	muscle
15	chr1:225795600-225805400	Weak transcription	NHLF	lung
16	chr1:225795600-225813200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:225795600-225813200	Weak transcription	Psoas Muscle	Psoas
18	chr1:225795600-225813800	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr1:225795800-225802000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr1:225795800-225802000	Weak transcription	Brain Hippocampus Middle	brain
21	chr1:225796400-225802000	Weak transcription	Fetal Muscle Leg	muscle
22	chr1:225796400-225810200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:225796400-225812600	Weak transcription	Right Atrium	heart
24	chr1:225796600-225812200	Weak transcription	Fetal Muscle Trunk	muscle
25	chr1:225797000-225802200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:225797200-225802200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:225797200-225802200	Weak transcription	Brain Substantia Nigra	brain
28	chr1:225797200-225806200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr1:225797200-225815200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:225797400-225802200	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr1:225797400-225812600	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr1:225797400-225814000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr1:225797600-225804400	Weak transcription	Fetal Heart	heart
34	chr1:225798600-225804600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:225798800-225802200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:225798800-225805000	Weak transcription	HSMM	muscle
37	chr1:225798800-225806200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr1:225798800-225808800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr1:225799400-225801600	Enhancers	Fetal Lung	lung
40	chr1:225799400-225801800	Enhancers	Ovary	ovary
41	chr1:225799400-225802800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:225799600-225801600	Enhancers	HepG2	liver
43	chr1:225799600-225802800	Enhancers	A549	lung
44	chr1:225800000-225802600	Enhancers	Osteobl	bone
45	chr1:225800000-225802800	Enhancers	Rectal Smooth Muscle	rectum
46	chr1:225800200-225802000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:225800200-225802200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr1:225800200-225802200	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr1:225800200-225805000	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr1:225800200-225805200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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