Variant report

Variant	rs73124418
Chromosome Location	chr1:224303521-224303522
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:224303077..224304578-chr1:224520459..224521727,7	K562	blood:
2	chr1:224301568..224304233-chr1:224516678..224521021,7	MCF-7	breast:
3	chr1:224303502..224304306-chr1:224490866..224491741,2	K562	blood:
4	chr1:224296083..224298373-chr1:224302570..224304923,2	K562	blood:
5	chr1:224300672..224304210-chr1:224370293..224374026,4	K562	blood:
6	chr1:224303004..224305617-chr1:224499691..224501422,2	K562	blood:
7	chr1:224293723..224297684-chr1:224300401..224303649,6	MCF-7	breast:
8	chr1:224301888..224304582-chr1:224366795..224368300,2	MCF-7	breast:
9	chr1:224302275..224304039-chr1:224543253..224546119,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000201898	Chromatin interaction
ENSG00000143771	Chromatin interaction
ENSG00000143748	Chromatin interaction
ENSG00000252484	Chromatin interaction
ENSG00000143753	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10799560	1.00[AMR][1000 genomes]
rs10799561	1.00[AMR][1000 genomes]
rs1878852	1.00[AMR][1000 genomes]
rs2404860	1.00[AMR][1000 genomes]
rs4436353	1.00[AMR][1000 genomes]
rs4653576	1.00[AMR][1000 genomes]
rs4654018	1.00[AMR][1000 genomes]
rs6426109	1.00[AMR][1000 genomes]
rs6682420	1.00[AMR][1000 genomes]
rs6682432	1.00[AMR][1000 genomes]
rs6692013	1.00[AMR][1000 genomes]
rs73118489	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73120487	1.00[AMR][1000 genomes]
rs73120493	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73124426	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73124444	1.00[AMR][1000 genomes]
rs73124475	1.00[AMR][1000 genomes]
rs73124496	1.00[AMR][1000 genomes]
rs73124501	1.00[AMR][1000 genomes]
rs7522125	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757772	chr1:223935220-224363163	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv2759000	chr1:223935220-224363163	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv427941	chr1:224085052-224363163	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv832692	chr1:224206536-224407717	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv873222	chr1:224292898-224335422	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224301200-224303600	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr1:224301200-224304000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:224301200-224304000	Active TSS	NHLF	lung
4	chr1:224301200-224304400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:224301200-224304400	Active TSS	Right Atrium	heart
6	chr1:224301400-224303600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:224301400-224303600	Active TSS	Fetal Intestine Small	intestine
8	chr1:224301400-224303600	Active TSS	GM12878-XiMat	blood
9	chr1:224301400-224303800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:224301600-224303600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:224301600-224303800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:224301600-224303800	Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr1:224301600-224304000	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr1:224301600-224304400	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr1:224301600-224304400	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr1:224302400-224303600	Flanking Active TSS	Dnd41	blood
17	chr1:224302600-224304200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:224302600-224304200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:224302600-224304200	Flanking Active TSS	HUVEC	blood vessel
20	chr1:224302600-224304400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr1:224302800-224303600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:224302800-224304200	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr1:224302800-224304200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr1:224302800-224304400	Enhancers	Primary B cells from peripheral blood	blood
25	chr1:224302800-224304400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr1:224302800-224304400	Enhancers	Brain Substantia Nigra	brain
27	chr1:224302800-224304600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr1:224302800-224304800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr1:224302800-224306200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr1:224302800-224308000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr1:224302800-224309200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr1:224302800-224309200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr1:224302800-224311600	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr1:224302800-224311600	Weak transcription	Gastric	stomach
35	chr1:224302800-224318200	Weak transcription	Fetal Muscle Trunk	muscle
36	chr1:224302800-224318200	Weak transcription	Left Ventricle	heart
37	chr1:224302800-224318200	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr1:224302800-224318400	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr1:224302800-224319600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:224302800-224319600	Weak transcription	Esophagus	oesophagus
41	chr1:224302800-224319600	Weak transcription	Lung	lung
42	chr1:224302800-224319600	Weak transcription	Small Intestine	intestine
43	chr1:224302800-224320200	Weak transcription	Pancreas	Pancrea
44	chr1:224302800-224327200	Weak transcription	Aorta	Aorta
45	chr1:224303000-224303600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr1:224303000-224303600	Weak transcription	Brain Hippocampus Middle	brain
47	chr1:224303000-224304000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:224303000-224304000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr1:224303000-224304000	Weak transcription	Brain Angular Gyrus	brain
50	chr1:224303000-224304000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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