Variant report

Variant	rs73124891
Chromosome Location	chr1:222884437-222884438
allele	C/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	GATA1	chr1:222882747-222884443	K562	blood:	n/a	chr1:222883269-222883277 chr1:222883982-222883991 chr1:222883978-222883994

No.	Distal block	Cell Line	Cell type
1	chr1:222760324..222764721-chr1:222884429..222887789,6	K562	blood:
2	chr1:222836221..222837854-chr1:222884380..222886530,2	MCF-7	breast:
3	chr1:222814795..222819438-chr1:222884035..222887873,13	K562	blood:
4	chr1:222762075..222764721-chr1:222883311..222887470,5	K562	blood:
5	chr1:222815622..222820703-chr1:222883498..222888165,14	K562	blood:

Variant related genes	Relation type
BROX	TF binding region
RN7SL276P	TF binding region
ENSG00000154305	Chromatin interaction
ENSG00000225265	Chromatin interaction
ENSG00000229399	Chromatin interaction
ENSG00000143498	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1986348	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2291833	0.80[ASN][1000 genomes]
rs2936019	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2936024	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2936025	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2936026	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3002150	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3008611	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3008613	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3008624	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3008627	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3008628	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3008632	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3008635	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3008639	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34290674	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34851033	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73124815	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73124822	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73124862	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs73124880	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73124889	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73126803	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73126812	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73126814	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73126825	0.81[ASN][1000 genomes]
rs7520650	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873205	chr1:222718718-222923351	Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222835200-222884600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:222839000-222884600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:222839600-222884600	Weak transcription	Esophagus	oesophagus
4	chr1:222840000-222884600	Weak transcription	Colonic Mucosa	Colon
5	chr1:222845000-222884600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:222855200-222884600	Weak transcription	Pancreas	Pancrea
7	chr1:222860000-222884600	Weak transcription	Left Ventricle	heart
8	chr1:222860200-222884600	Weak transcription	Aorta	Aorta
9	chr1:222860200-222884600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr1:222860200-222884600	Weak transcription	Gastric	stomach
11	chr1:222860200-222884600	Weak transcription	Lung	lung
12	chr1:222861000-222885000	Weak transcription	Spleen	Spleen
13	chr1:222873800-222884600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr1:222874000-222884600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:222881800-222884600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr1:222882000-222884600	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr1:222882200-222884600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr1:222882400-222884600	Enhancers	Small Intestine	intestine
19	chr1:222882800-222884600	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr1:222883000-222884600	Enhancers	Brain Cingulate Gyrus	brain
21	chr1:222883200-222884600	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr1:222883200-222884600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr1:222883200-222887600	Active TSS	Brain Anterior Caudate	brain
24	chr1:222883400-222884600	Enhancers	Liver	Liver
25	chr1:222883400-222884600	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr1:222883600-222884800	Flanking Active TSS	Fetal Brain Male	brain
27	chr1:222883800-222884600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr1:222883800-222884600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr1:222883800-222884800	Flanking Active TSS	Dnd41	blood
30	chr1:222883800-222885200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:222883800-222887400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr1:222883800-222887600	Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr1:222883800-222887600	Active TSS	Fetal Kidney	kidney
34	chr1:222883800-222887600	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr1:222883800-222887600	Active TSS	NHLF	lung
36	chr1:222883800-222887800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr1:222883800-222887800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:222883800-222888000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr1:222883800-222888000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr1:222884000-222884600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr1:222884000-222884600	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr1:222884000-222884800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr1:222884000-222884800	Active TSS	Brain Germinal Matrix	brain
44	chr1:222884000-222885000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
45	chr1:222884000-222885400	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr1:222884000-222887200	Active TSS	Brain Angular Gyrus	brain
47	chr1:222884000-222887400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr1:222884000-222887400	Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr1:222884000-222887600	Active TSS	H1 Cell Line	embryonic stem cell
50	chr1:222884000-222887600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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