Variant report

Variant	rs73124493
Chromosome Location	chr1:224336810-224336811
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:224335933..224338116-chr1:224346191..224348944,2	K562	blood:
2	chr1:224307124..224309430-chr1:224336604..224339479,2	MCF-7	breast:
3	chr1:224334889..224337691-chr1:224341206..224343070,2	K562	blood:
4	chr1:224334889..224338444-chr1:224339776..224343070,5	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10495221	1.00[EUR][1000 genomes]
rs11801211	1.00[EUR][1000 genomes]
rs11802182	1.00[EUR][1000 genomes]
rs11807149	1.00[EUR][1000 genomes]
rs11809688	1.00[EUR][1000 genomes]
rs11811935	1.00[EUR][1000 genomes]
rs12025911	1.00[EUR][1000 genomes]
rs12027762	1.00[EUR][1000 genomes]
rs12047952	1.00[EUR][1000 genomes]
rs12239235	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12239466	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1401319	1.00[EUR][1000 genomes]
rs16842341	1.00[EUR][1000 genomes]
rs16846190	1.00[EUR][1000 genomes]
rs16846212	1.00[EUR][1000 genomes]
rs16846293	1.00[EUR][1000 genomes]
rs16846494	1.00[EUR][1000 genomes]
rs16847675	1.00[EUR][1000 genomes]
rs1857042	1.00[EUR][1000 genomes]
rs2068945	1.00[EUR][1000 genomes]
rs28458390	1.00[EUR][1000 genomes]
rs28684725	1.00[EUR][1000 genomes]
rs57469223	1.00[EUR][1000 genomes]
rs57967341	1.00[EUR][1000 genomes]
rs58090997	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs58304668	1.00[EUR][1000 genomes]
rs58649883	1.00[EUR][1000 genomes]
rs58788859	1.00[EUR][1000 genomes]
rs58954846	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59561838	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59577766	1.00[EUR][1000 genomes]
rs59710928	1.00[EUR][1000 genomes]
rs59819476	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs59970447	1.00[EUR][1000 genomes]
rs60715845	1.00[EUR][1000 genomes]
rs60831135	1.00[EUR][1000 genomes]
rs61056357	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61144016	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs61162360	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61278437	1.00[EUR][1000 genomes]
rs61347348	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6426167	1.00[EUR][1000 genomes]
rs6664674	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6674133	1.00[EUR][1000 genomes]
rs6681611	1.00[EUR][1000 genomes]
rs6702649	1.00[EUR][1000 genomes]
rs73121865	1.00[EUR][1000 genomes]
rs73122500	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73123788	1.00[EUR][1000 genomes]
rs73124453	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs73124468	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73124491	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73126411	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73126416	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs73128442	1.00[EUR][1000 genomes]
rs7515215	1.00[EUR][1000 genomes]
rs969008	0.84[AFR][1000 genomes];0.83[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	esv1792939	chr1:224336636-224351023	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224303000-224363400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:224314400-224343400	Weak transcription	Psoas Muscle	Psoas
3	chr1:224316600-224352200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:224320200-224344800	Weak transcription	Gastric	stomach
5	chr1:224320200-224345000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr1:224320200-224345000	Weak transcription	HUVEC	blood vessel
7	chr1:224320400-224344800	Weak transcription	Small Intestine	intestine
8	chr1:224320400-224345000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:224320400-224345000	Weak transcription	Right Ventricle	heart
10	chr1:224320400-224345200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr1:224320600-224344000	Weak transcription	Brain Germinal Matrix	brain
12	chr1:224320600-224345000	Weak transcription	Pancreas	Pancrea
13	chr1:224320600-224345200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:224320800-224339000	Weak transcription	A549	lung
15	chr1:224320800-224343200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr1:224320800-224344200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr1:224320800-224344800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr1:224320800-224345200	Weak transcription	Brain Substantia Nigra	brain
19	chr1:224321000-224337200	Weak transcription	Brain Hippocampus Middle	brain
20	chr1:224321000-224338400	Weak transcription	Brain Angular Gyrus	brain
21	chr1:224321000-224343200	Weak transcription	Colon Smooth Muscle	Colon
22	chr1:224321000-224343400	Weak transcription	Fetal Brain Male	brain
23	chr1:224321000-224344200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr1:224321000-224344800	Weak transcription	NHLF	lung
25	chr1:224321000-224345000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr1:224321000-224345400	Weak transcription	Fetal Heart	heart
27	chr1:224322000-224345400	Weak transcription	HMEC	breast
28	chr1:224322400-224337600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:224322600-224345000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr1:224323000-224337000	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr1:224323000-224337200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:224323000-224341000	Weak transcription	NH-A	brain
33	chr1:224323000-224343200	Weak transcription	NHDF-Ad	bronchial
34	chr1:224324200-224337000	Weak transcription	Hela-S3	cervix
35	chr1:224324200-224343800	Weak transcription	HepG2	liver
36	chr1:224325000-224351000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr1:224326200-224345200	Weak transcription	Colonic Mucosa	Colon
38	chr1:224326800-224344000	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr1:224327000-224340200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr1:224327000-224345000	Weak transcription	GM12878-XiMat	blood
41	chr1:224327200-224341000	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr1:224327400-224343200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr1:224327400-224343400	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr1:224327400-224344000	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr1:224327600-224340200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr1:224327600-224340800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr1:224327600-224356400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr1:224327800-224341400	Weak transcription	Lung	lung
49	chr1:224327800-224344000	Weak transcription	Left Ventricle	heart
50	chr1:224327800-224345000	Weak transcription	Aorta	Aorta

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