Variant report

Variant	rs4653479
Chromosome Location	chr1:227275981-227275982
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	chr1:227263840..227266585-chr1:227275633..227278048,3	K562	blood:
2	chr1:227274632..227277428-chr1:227279390..227281436,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10799381	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10916080	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12039370	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12139758	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1320494	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1483	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1929858	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2102634	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2482454	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2492630	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2670462	0.80[AMR][1000 genomes]
rs2813947	0.80[AMR][1000 genomes]
rs2813948	0.80[AMR][1000 genomes]
rs3754418	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4351610	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs485234	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs488104	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs498020	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56219094	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs648877	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6662583	0.83[AMR][1000 genomes]
rs6682472	0.80[AMR][1000 genomes]
rs6682642	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6685823	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6692080	0.80[AMR][1000 genomes]
rs6699828	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs689094	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs694740	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7412928	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7521110	0.83[AMR][1000 genomes]
rs7521639	1.00[ASN][1000 genomes]
rs7523167	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7543579	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7549520	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv1011654	chr1:227196502-227308416	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv832792	chr1:227211378-227364992	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv873239	chr1:227222125-227361072	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv468227	chr1:227223736-227340790	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv549269	chr1:227223736-227340790	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv873240	chr1:227228946-227361072	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv873241	chr1:227242247-227361072	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227154400-227294200	Weak transcription	Hela-S3	cervix
2	chr1:227203000-227278800	Weak transcription	Pancreas	Pancrea
3	chr1:227209200-227301600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:227214800-227329200	Weak transcription	Right Ventricle	heart
5	chr1:227216800-227287600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:227217000-227278800	Weak transcription	Placenta	Placenta
7	chr1:227220600-227288000	Weak transcription	Colon Smooth Muscle	Colon
8	chr1:227226800-227278400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr1:227226800-227285600	Weak transcription	Brain Germinal Matrix	brain
10	chr1:227227000-227282200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:227227400-227281200	Weak transcription	Fetal Kidney	kidney
12	chr1:227227400-227284200	Weak transcription	Brain Angular Gyrus	brain
13	chr1:227228000-227277000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr1:227232800-227279200	Weak transcription	Stomach Mucosa	stomach
15	chr1:227236000-227286200	Weak transcription	Fetal Brain Male	brain
16	chr1:227238600-227278400	Weak transcription	Brain Hippocampus Middle	brain
17	chr1:227240000-227286800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr1:227246400-227278400	Weak transcription	NH-A	brain
19	chr1:227247400-227299800	Weak transcription	HMEC	breast
20	chr1:227251000-227300000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr1:227253600-227278600	Weak transcription	Adipose Nuclei	Adipose
22	chr1:227257000-227278400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr1:227257600-227288000	Weak transcription	HSMMtube	muscle
24	chr1:227257800-227312200	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr1:227259000-227280600	Weak transcription	HepG2	liver
26	chr1:227259400-227349000	Weak transcription	Colonic Mucosa	Colon
27	chr1:227260000-227278600	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr1:227260200-227278600	Weak transcription	Stomach Smooth Muscle	stomach
29	chr1:227260200-227281800	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr1:227260400-227287800	Weak transcription	NHEK	skin
31	chr1:227261400-227287800	Weak transcription	Osteobl	bone
32	chr1:227268600-227278600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr1:227268800-227287000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr1:227270200-227278400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr1:227270800-227276000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr1:227271400-227276000	Strong transcription	Duodenum Mucosa	Duodenum
37	chr1:227271800-227278200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:227271800-227278600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr1:227271800-227278600	Weak transcription	Brain Anterior Caudate	brain
40	chr1:227271800-227278800	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr1:227271800-227279800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:227271800-227279800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr1:227271800-227286600	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr1:227271800-227286800	Weak transcription	NHDF-Ad	bronchial
45	chr1:227271800-227287800	Weak transcription	Rectal Smooth Muscle	rectum
46	chr1:227271800-227288000	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr1:227271800-227299600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr1:227272000-227276000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr1:227272000-227285800	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr1:227272400-227279400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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