Variant report

Variant	rs72472377
Chromosome Location	chr1:220928985-220928986
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr1:220928590-220929057	NB4	blood:	n/a	n/a
2	MYC	chr1:220928619-220929064	NB4	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:220920532..220923272-chr1:220926936..220929369,4	MCF-7	breast:

Variant related genes	Relation type
MARC2	TF binding region
ENSG00000117791	Chromatin interaction

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs11118602	1.00[EUR][1000 genomes]
rs11118603	1.00[EUR][1000 genomes]
rs1113125	1.00[EUR][1000 genomes]
rs11557506	1.00[EUR][1000 genomes]
rs12021979	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12023202	1.00[EUR][1000 genomes]
rs12023249	1.00[EUR][1000 genomes]
rs12023303	1.00[EUR][1000 genomes]
rs12023484	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12024252	1.00[EUR][1000 genomes]
rs12026176	1.00[EUR][1000 genomes]
rs12026612	1.00[EUR][1000 genomes]
rs12026813	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12027068	1.00[EUR][1000 genomes]
rs12027298	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12027302	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12027337	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12028887	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12030190	1.00[EUR][1000 genomes]
rs12030249	1.00[EUR][1000 genomes]
rs12030434	1.00[EUR][1000 genomes]
rs12030456	1.00[EUR][1000 genomes]
rs12031479	1.00[EUR][1000 genomes]
rs12031951	1.00[EUR][1000 genomes]
rs12032336	1.00[EUR][1000 genomes]
rs12033644	1.00[EUR][1000 genomes]
rs12033645	1.00[EUR][1000 genomes]
rs12033732	1.00[EUR][1000 genomes]
rs12033808	1.00[EUR][1000 genomes]
rs12034685	1.00[EUR][1000 genomes]
rs12034691	1.00[EUR][1000 genomes]
rs12038621	0.86[ASN][1000 genomes]
rs12039436	1.00[EUR][1000 genomes]
rs12041919	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12041923	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12041952	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12041956	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12043169	0.85[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs12043238	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12044903	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12045050	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12046425	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12046511	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12046515	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12047809	1.00[EUR][1000 genomes]
rs12047899	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12048193	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12048740	1.00[EUR][1000 genomes]
rs12048861	1.00[EUR][1000 genomes]
rs12049111	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1389745	1.00[EUR][1000 genomes]
rs1389746	1.00[EUR][1000 genomes]
rs1389747	1.00[EUR][1000 genomes]
rs17008639	1.00[EUR][1000 genomes]
rs17008644	1.00[EUR][1000 genomes]
rs17008646	1.00[EUR][1000 genomes]
rs17008649	0.83[EUR][1000 genomes]
rs17008667	1.00[EUR][1000 genomes]
rs17008670	1.00[EUR][1000 genomes]
rs17008680	1.00[EUR][1000 genomes]
rs182872	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1982894	1.00[EUR][1000 genomes]
rs1982895	1.00[EUR][1000 genomes]
rs2067632	1.00[EUR][1000 genomes]
rs2067633	1.00[EUR][1000 genomes]
rs2275574	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs337137	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs337140	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs337141	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs337144	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs371348	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3767324	1.00[EUR][1000 genomes]
rs3795535	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3820349	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3820350	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3820352	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3820353	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3902885	1.00[EUR][1000 genomes]
rs4124596	1.00[EUR][1000 genomes]
rs419746	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4480363	1.00[EUR][1000 genomes]
rs449699	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs453079	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58538649	0.93[ASN][1000 genomes]
rs60183673	0.91[ASN][1000 genomes]
rs67065803	1.00[EUR][1000 genomes]
rs67889619	1.00[EUR][1000 genomes]
rs72472379	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72472380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72472383	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72472384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72472389	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72472390	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72472391	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72472392	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72472394	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72472398	1.00[EUR][1000 genomes]
rs72472399	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72472402	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72473905	1.00[EUR][1000 genomes]
rs72473913	1.00[EUR][1000 genomes]
rs746767	1.00[EUR][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	esv2754270	chr1:220850116-220929155	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv523389	chr1:220926844-220956012	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220922400-220932200	Weak transcription	HSMMtube	muscle
2	chr1:220922600-220929400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:220922600-220929400	Weak transcription	Esophagus	oesophagus
4	chr1:220922600-220931000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:220922600-220943800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:220922600-220946400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:220922800-220929000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:220922800-220959600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr1:220922800-220959600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr1:220923200-220930400	Weak transcription	Spleen	Spleen
11	chr1:220923200-220948000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:220924200-220929200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:220924200-220931000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr1:220924200-220936000	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr1:220924600-220936800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:220924600-220944000	Weak transcription	Brain Hippocampus Middle	brain
17	chr1:220924800-220931200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr1:220924800-220945600	Weak transcription	Osteobl	bone
19	chr1:220925000-220929000	Weak transcription	Brain Germinal Matrix	brain
20	chr1:220925000-220946000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr1:220925000-220959400	Weak transcription	Brain Angular Gyrus	brain
22	chr1:220925200-220929200	Weak transcription	Colon Smooth Muscle	Colon
23	chr1:220925200-220942000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr1:220925200-220943400	Weak transcription	Brain Cingulate Gyrus	brain
25	chr1:220925400-220950200	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr1:220925800-220931800	Strong transcription	Fetal Intestine Small	intestine
27	chr1:220925800-220938400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr1:220926000-220929000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr1:220927000-220933000	Weak transcription	Right Ventricle	heart
30	chr1:220927200-220933200	Weak transcription	Small Intestine	intestine
31	chr1:220927400-220929800	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr1:220927400-220930400	Strong transcription	Stomach Smooth Muscle	stomach
33	chr1:220927600-220929000	Genic enhancers	Liver	Liver
34	chr1:220927600-220930800	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr1:220927600-220931200	Strong transcription	Duodenum Mucosa	Duodenum
36	chr1:220927600-220931200	Strong transcription	Fetal Muscle Leg	muscle
37	chr1:220927600-220931200	Strong transcription	Hela-S3	cervix
38	chr1:220927600-220934400	Weak transcription	Stomach Mucosa	stomach
39	chr1:220927800-220929400	Weak transcription	NHLF	lung
40	chr1:220927800-220929600	Strong transcription	HepG2	liver
41	chr1:220927800-220930800	Strong transcription	Gastric	stomach
42	chr1:220927800-220931000	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr1:220927800-220931000	Strong transcription	Skeletal Muscle Male	skeletal muscle
44	chr1:220927800-220931200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr1:220927800-220931200	Strong transcription	Fetal Intestine Large	intestine
46	chr1:220927800-220931200	Strong transcription	Pancreas	Pancrea
47	chr1:220927800-220931400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr1:220927800-220931600	Strong transcription	Lung	lung
49	chr1:220927800-220938600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:220928000-220929000	Genic enhancers	Adipose Nuclei	Adipose

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