Variant report

Variant	rs72736474
Chromosome Location	chr1:197050844-197050845
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10484502	0.81[ASN][1000 genomes]
rs10737685	0.81[ASN][1000 genomes]
rs10754209	0.85[ASN][1000 genomes]
rs10754216	0.83[ASN][1000 genomes]
rs10801589	0.81[ASN][1000 genomes]
rs10922163	0.81[ASN][1000 genomes]
rs1127661	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1332661	0.89[ASN][1000 genomes]
rs1412635	0.86[ASN][1000 genomes]
rs1611982	0.86[ASN][1000 genomes]
rs1615413	0.89[ASN][1000 genomes]
rs17514309	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17514324	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17549312	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17549360	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17549430	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17550014	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17550411	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17662710	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1794011	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2225565	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2298882	0.89[ASN][1000 genomes]
rs2878749	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3737110	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3737111	0.83[ASN][1000 genomes]
rs3748557	0.80[ASN][1000 genomes]
rs3762271	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs41304071	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs41308365	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs41310911	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs41310925	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs41310927	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs45445493	0.87[ASN][1000 genomes]
rs45489701	0.80[ASN][1000 genomes]
rs4581302	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4628533	1.00[AFR][1000 genomes]
rs55857606	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56084994	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56111948	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56387334	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5990	0.81[ASN][1000 genomes]
rs5996	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5998	0.81[ASN][1000 genomes]
rs60002789	0.80[ASN][1000 genomes]
rs61819074	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61819087	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61819088	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61819089	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61819095	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61819096	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61819116	1.00[AFR][1000 genomes]
rs61819117	1.00[AFR][1000 genomes]
rs61819118	1.00[AFR][1000 genomes]
rs61819119	0.91[AFR][1000 genomes]
rs61819124	1.00[AFR][1000 genomes]
rs61820789	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61820800	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6690730	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6700180	0.81[ASN][1000 genomes]
rs6702252	0.81[ASN][1000 genomes]
rs698859	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72468006	0.80[ASN][1000 genomes]
rs72736469	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72738635	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72738637	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72738645	1.00[AFR][1000 genomes]
rs72738652	1.00[AFR][1000 genomes]
rs7514071	0.91[ASN][1000 genomes]
rs7517428	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7518773	0.85[ASN][1000 genomes]
rs7525490	0.84[ASN][1000 genomes]
rs857018	0.85[ASN][1000 genomes]
rs857024	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs857025	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs955927	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528460	chr1:196542567-197446702	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2758990	chr1:196590837-197169772	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv427897	chr1:196590837-197169772	Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	esv2756880	chr1:196709223-197066074	ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	esv2757767	chr1:196977799-197169772	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv873065	chr1:197027749-197076194	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv873067	chr1:197028634-197064496	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv873068	chr1:197046782-197076194	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197049800-197051800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:197050000-197052800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
3	chr1:197050200-197051400	Weak transcription	Fetal Kidney	kidney
4	chr1:197050200-197052200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
5	chr1:197050200-197052400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:197050400-197051600	ZNF genes & repeats	Fetal Muscle Trunk	muscle
7	chr1:197050400-197051800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:197050400-197052000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:197050400-197052200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:197050400-197052200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:197050400-197052200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
12	chr1:197050400-197052200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:197050400-197052200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:197050400-197052200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:197050400-197052200	ZNF genes & repeats	Fetal Intestine Small	intestine
16	chr1:197050400-197052400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:197050400-197052400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
18	chr1:197050400-197055200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
19	chr1:197050400-197065600	Weak transcription	Stomach Mucosa	stomach
20	chr1:197050600-197051200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:197050600-197051600	Weak transcription	K562	blood
22	chr1:197050600-197051800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr1:197050600-197052000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:197050600-197052200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
25	chr1:197050600-197052200	ZNF genes & repeats	Fetal Brain Female	brain
26	chr1:197050600-197052200	ZNF genes & repeats	Fetal Muscle Leg	muscle
27	chr1:197050600-197052200	ZNF genes & repeats	Fetal Stomach	stomach
28	chr1:197050600-197052200	ZNF genes & repeats	Thymus	Thymus
29	chr1:197050600-197052200	ZNF genes & repeats	HSMM	muscle
30	chr1:197050600-197052800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:197050600-197053000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr1:197050600-197055200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
33	chr1:197050600-197055400	ZNF genes & repeats	Dnd41	blood
34	chr1:197050600-197059600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr1:197050600-197064400	Weak transcription	Fetal Heart	heart
36	chr1:197050800-197051000	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
37	chr1:197050800-197051400	ZNF genes & repeats	Fetal Lung	lung
38	chr1:197050800-197051600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr1:197050800-197051800	Weak transcription	HMEC	breast
40	chr1:197050800-197052200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
41	chr1:197050800-197052400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:197050800-197052800	ZNF genes & repeats	A549	lung
43	chr1:197050800-197053000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
44	chr1:197050800-197053600	Weak transcription	Gastric	stomach
45	chr1:197050800-197055600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr1:197050800-197057200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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