Variant report

Variant	rs72716624
Chromosome Location	chr1:180451130-180451131
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:180447230..180448996-chr1:180450484..180453034,2	K562	blood:
2	chr1:180446739..180449088-chr1:180449481..180452200,3	MCF-7	breast:
3	chr1:180160033..180161907-chr1:180449286..180451690,2	MCF-7	breast:

Extended variants
information (count: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs10494528	0.88[EUR][1000 genomes]
rs10494529	0.88[EUR][1000 genomes]
rs1069436	0.85[EUR][1000 genomes]
rs10913988	0.88[EUR][1000 genomes]
rs10913990	0.84[EUR][1000 genomes]
rs10913991	0.88[EUR][1000 genomes]
rs10913992	0.88[EUR][1000 genomes]
rs10913995	0.86[EUR][1000 genomes]
rs10913996	0.88[EUR][1000 genomes]
rs10914004	0.88[EUR][1000 genomes]
rs10914012	0.88[EUR][1000 genomes]
rs11487431	0.88[EUR][1000 genomes]
rs12058221	0.88[EUR][1000 genomes]
rs12062561	0.88[EUR][1000 genomes]
rs12065388	0.93[EUR][1000 genomes]
rs12069389	0.88[EUR][1000 genomes]
rs12070624	0.88[EUR][1000 genomes]
rs12071353	0.88[EUR][1000 genomes]
rs12076995	0.88[EUR][1000 genomes]
rs12077656	0.88[EUR][1000 genomes]
rs12077791	0.88[EUR][1000 genomes]
rs12077839	0.88[EUR][1000 genomes]
rs12081494	0.86[EUR][1000 genomes]
rs12083900	0.88[EUR][1000 genomes]
rs12084039	0.88[EUR][1000 genomes]
rs12087060	0.93[EUR][1000 genomes]
rs12087325	0.88[EUR][1000 genomes]
rs12089373	0.86[EUR][1000 genomes]
rs12093073	0.88[EUR][1000 genomes]
rs1339721	0.88[EUR][1000 genomes]
rs16856042	0.93[EUR][1000 genomes]
rs2254465	0.85[EUR][1000 genomes]
rs2764433	0.85[EUR][1000 genomes]
rs4403592	0.88[EUR][1000 genomes]
rs55660948	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55962675	0.88[EUR][1000 genomes]
rs56079047	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs56303477	0.84[EUR][1000 genomes]
rs56333717	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56747078	0.93[EUR][1000 genomes]
rs57070632	0.93[EUR][1000 genomes]
rs57424497	0.88[EUR][1000 genomes]
rs57493263	0.88[EUR][1000 genomes]
rs58145394	0.85[EUR][1000 genomes]
rs58369506	0.88[EUR][1000 genomes]
rs59357483	0.88[EUR][1000 genomes]
rs59371134	0.93[EUR][1000 genomes]
rs60528279	0.83[EUR][1000 genomes]
rs61024380	0.88[EUR][1000 genomes]
rs6425635	0.88[EUR][1000 genomes]
rs6659477	0.84[EUR][1000 genomes]
rs66619942	0.88[EUR][1000 genomes]
rs6663823	0.88[EUR][1000 genomes]
rs6667388	0.88[EUR][1000 genomes]
rs6670242	0.88[EUR][1000 genomes]
rs6673113	0.93[EUR][1000 genomes]
rs6676778	0.88[EUR][1000 genomes]
rs66913400	0.88[EUR][1000 genomes]
rs6696075	0.88[EUR][1000 genomes]
rs67071426	0.88[EUR][1000 genomes]
rs67343454	0.93[EUR][1000 genomes]
rs67517246	0.93[EUR][1000 genomes]
rs67621570	0.88[EUR][1000 genomes]
rs67623108	0.93[EUR][1000 genomes]
rs67716213	0.88[EUR][1000 genomes]
rs67830766	0.88[EUR][1000 genomes]
rs68010689	0.93[EUR][1000 genomes]
rs68046305	0.91[EUR][1000 genomes]
rs72714809	0.85[EUR][1000 genomes]
rs72714814	0.83[EUR][1000 genomes]
rs72714815	0.81[EUR][1000 genomes]
rs72714816	0.90[EUR][1000 genomes]
rs72714819	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs72714820	0.90[EUR][1000 genomes]
rs72714824	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72714859	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs72714872	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72714883	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72714890	0.95[EUR][1000 genomes]
rs72714891	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72714892	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72714894	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72714896	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72716605	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72716619	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72716634	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72716637	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72720921	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73037411	0.88[EUR][1000 genomes]
rs73048237	0.88[EUR][1000 genomes]
rs7533389	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7542223	0.88[EUR][1000 genomes]
rs7552701	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9662762	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003739	chr1:180027760-180483292	Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv535217	chr1:180027760-180483292	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv1013716	chr1:180287338-180477072	Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
4	nsv535221	chr1:180287338-180477072	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
5	esv2762200	chr1:180300936-180493841	ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
6	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
7	nsv949311	chr1:180438895-180692815	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180404400-180469000	Weak transcription	Pancreas	Pancrea
2	chr1:180421200-180451600	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr1:180425800-180457600	Weak transcription	Aorta	Aorta
4	chr1:180428000-180470000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr1:180429600-180455000	Weak transcription	Left Ventricle	heart
6	chr1:180430200-180454600	Weak transcription	Thymus	Thymus
7	chr1:180431200-180470200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:180432000-180451400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr1:180432000-180470600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr1:180433600-180454200	Weak transcription	Adipose Nuclei	Adipose
11	chr1:180433800-180455000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr1:180434000-180465600	Weak transcription	Fetal Brain Male	brain
13	chr1:180434200-180470200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr1:180434400-180451400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr1:180434800-180451400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr1:180434800-180458800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr1:180435000-180456400	Weak transcription	Fetal Kidney	kidney
18	chr1:180435200-180454400	Weak transcription	Fetal Muscle Trunk	muscle
19	chr1:180435200-180469000	Weak transcription	Brain Angular Gyrus	brain
20	chr1:180437600-180451400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr1:180437600-180454600	Weak transcription	Gastric	stomach
22	chr1:180437600-180455200	Weak transcription	Ovary	ovary
23	chr1:180437600-180470400	Weak transcription	Right Ventricle	heart
24	chr1:180437600-180470600	Weak transcription	Spleen	Spleen
25	chr1:180437600-180471000	Weak transcription	Lung	lung
26	chr1:180437800-180454400	Weak transcription	Fetal Intestine Large	intestine
27	chr1:180438200-180451400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr1:180438400-180453000	Weak transcription	Placenta	Placenta
29	chr1:180438600-180451400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr1:180438600-180454400	Weak transcription	Fetal Thymus	thymus
31	chr1:180438800-180451400	Weak transcription	HUVEC	blood vessel
32	chr1:180438800-180454400	Weak transcription	HepG2	liver
33	chr1:180440000-180451800	Weak transcription	Brain Hippocampus Middle	brain
34	chr1:180440000-180455200	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr1:180440000-180469000	Weak transcription	HSMMtube	muscle
36	chr1:180440200-180468400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr1:180440200-180469000	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr1:180441400-180451400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr1:180441400-180455200	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr1:180441600-180453800	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr1:180441800-180462800	Weak transcription	NHLF	lung
42	chr1:180442200-180451800	Weak transcription	Hela-S3	cervix
43	chr1:180442200-180454800	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr1:180442200-180454800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr1:180443400-180468200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr1:180444800-180454800	Weak transcription	Psoas Muscle	Psoas
47	chr1:180444800-180470600	Weak transcription	Esophagus	oesophagus
48	chr1:180445600-180451400	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr1:180446400-180455200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr1:180446400-180455400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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