Variant report

Variant	rs4500279
Chromosome Location	chr1:227484482-227484483
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:227484375..227486737-chr1:227489822..227491362,2	K562	blood:
2	chr1:227480336..227482044-chr1:227483405..227484935,2	K562	blood:
3	chr1:227482589..227485572-chr1:227485987..227487557,2	K562	blood:
4	chr1:227480441..227495625-chr1:227496855..227507828,32	K562	blood:
5	chr1:227483357..227485572-chr1:227486057..227488627,3	K562	blood:

Variant related genes	Relation type
ENSG00000143776	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10495253	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10916104	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1483	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2670462	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2670471	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2718193	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2813947	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2813948	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2813950	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2813965	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2813967	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2813969	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2813970	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4653813	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61834571	0.82[EUR][1000 genomes]
rs6662583	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6682472	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6692080	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6697665	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7512409	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7521110	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7523167	0.83[AMR][1000 genomes]
rs7543579	0.83[AMR][1000 genomes];0.80[EUR][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	nsv1003656	chr1:227034700-227559665	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats 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	35 gene(s)	inside rSNPs	diseases
2	nsv535318	chr1:227034700-227559665	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
4	nsv873242	chr1:227371906-227579344	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv549271	chr1:227411003-227581017	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv1001353	chr1:227474785-227660691	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227431600-227486200	Weak transcription	NHDF-Ad	bronchial
2	chr1:227462600-227500200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:227467200-227485800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr1:227469200-227500200	Weak transcription	Left Ventricle	heart
5	chr1:227469200-227502600	Weak transcription	HSMM	muscle
6	chr1:227469600-227501800	Weak transcription	Fetal Stomach	stomach
7	chr1:227470600-227485800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:227473800-227486200	Weak transcription	Aorta	Aorta
9	chr1:227474200-227486200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:227474600-227486000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:227474800-227485800	Weak transcription	HUVEC	blood vessel
12	chr1:227474800-227486200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:227474800-227486200	Weak transcription	Duodenum Mucosa	Duodenum
14	chr1:227475000-227486200	Weak transcription	HMEC	breast
15	chr1:227475000-227491800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:227475000-227502000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr1:227475200-227500200	Weak transcription	Fetal Intestine Small	intestine
18	chr1:227475800-227484800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr1:227475800-227485200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:227475800-227486400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr1:227476200-227486200	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr1:227477000-227486200	Weak transcription	Brain Anterior Caudate	brain
23	chr1:227477200-227485000	Weak transcription	K562	blood
24	chr1:227478000-227491800	Weak transcription	Psoas Muscle	Psoas
25	chr1:227479600-227486200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:227481200-227486200	Weak transcription	Liver	Liver
27	chr1:227481800-227485200	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr1:227482800-227486200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr1:227483600-227486200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:227483600-227486200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr1:227483600-227486400	Weak transcription	Stomach Mucosa	stomach
32	chr1:227483600-227489800	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr1:227483600-227500200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr1:227483800-227486000	Weak transcription	Colon Smooth Muscle	Colon
35	chr1:227483800-227486200	Weak transcription	Brain Angular Gyrus	brain
36	chr1:227483800-227486200	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr1:227483800-227500400	Weak transcription	Right Atrium	heart
38	chr1:227484000-227486400	Weak transcription	Fetal Heart	heart

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