Variant report

Variant	rs72716625
Chromosome Location	chr1:180452344-180452345
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:179850633..179853167-chr1:180451916..180454813,2	MCF-7	breast:
2	chr1:180447230..180448996-chr1:180450484..180453034,2	K562	blood:
3	chr1:180407009..180409434-chr1:180451418..180454392,2	K562	blood:
4	chr1:180223335..180225527-chr1:180451966..180453650,2	K562	blood:
5	chr1:180452066..180455283-chr1:180469732..180473290,4	MCF-7	breast:
6	chr1:180451760..180453720-chr1:180467061..180469064,2	K562	blood:

Variant related genes	Relation type
ENSG00000135847	Chromatin interaction
ENSG00000265435	Chromatin interaction
ENSG00000272906	Chromatin interaction
ENSG00000143337	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10914021	0.88[EUR][1000 genomes]
rs10914022	0.86[EUR][1000 genomes]
rs12407684	0.80[EUR][1000 genomes]
rs13373944	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13374104	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13374665	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13376342	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1416822	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17300282	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17300340	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17300600	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17300712	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17372281	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17372295	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17372362	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17372667	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28816398	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4405110	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4446932	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4651065	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56759227	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs57537558	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs57882351	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs58047798	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58677059	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs59022209	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59113753	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs59829460	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60927564	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6425643	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6425646	0.80[EUR][1000 genomes]
rs6672501	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6680668	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6694896	0.86[EUR][1000 genomes]
rs6702245	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6704001	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72712995	0.84[EUR][1000 genomes]
rs72713000	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72714804	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72714834	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72714847	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72714855	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72714856	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72714861	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72714864	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72714866	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72714870	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72714877	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72714879	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72714887	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72714902	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72716607	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72716615	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72716616	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72716627	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72716629	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72716632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72720914	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs74132851	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs74135185	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7517775	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7525689	0.87[EUR][1000 genomes]
rs7547266	0.85[EUR][1000 genomes]
rs946636	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs961162	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9650999	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[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:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180404400-180469000	Weak transcription	Pancreas	Pancrea
2	chr1:180425800-180457600	Weak transcription	Aorta	Aorta
3	chr1:180428000-180470000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr1:180429600-180455000	Weak transcription	Left Ventricle	heart
5	chr1:180430200-180454600	Weak transcription	Thymus	Thymus
6	chr1:180431200-180470200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:180432000-180470600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:180433600-180454200	Weak transcription	Adipose Nuclei	Adipose
9	chr1:180433800-180455000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr1:180434000-180465600	Weak transcription	Fetal Brain Male	brain
11	chr1:180434200-180470200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr1:180434800-180458800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr1:180435000-180456400	Weak transcription	Fetal Kidney	kidney
14	chr1:180435200-180454400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr1:180435200-180469000	Weak transcription	Brain Angular Gyrus	brain
16	chr1:180437600-180454600	Weak transcription	Gastric	stomach
17	chr1:180437600-180455200	Weak transcription	Ovary	ovary
18	chr1:180437600-180470400	Weak transcription	Right Ventricle	heart
19	chr1:180437600-180470600	Weak transcription	Spleen	Spleen
20	chr1:180437600-180471000	Weak transcription	Lung	lung
21	chr1:180437800-180454400	Weak transcription	Fetal Intestine Large	intestine
22	chr1:180438400-180453000	Weak transcription	Placenta	Placenta
23	chr1:180438600-180454400	Weak transcription	Fetal Thymus	thymus
24	chr1:180438800-180454400	Weak transcription	HepG2	liver
25	chr1:180440000-180455200	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr1:180440000-180469000	Weak transcription	HSMMtube	muscle
27	chr1:180440200-180468400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr1:180440200-180469000	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr1:180441400-180455200	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr1:180441600-180453800	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr1:180441800-180462800	Weak transcription	NHLF	lung
32	chr1:180442200-180454800	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr1:180442200-180454800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr1:180443400-180468200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr1:180444800-180454800	Weak transcription	Psoas Muscle	Psoas
36	chr1:180444800-180470600	Weak transcription	Esophagus	oesophagus
37	chr1:180446400-180455200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr1:180446400-180455400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr1:180447000-180470400	Weak transcription	Colonic Mucosa	Colon
40	chr1:180447400-180457000	Weak transcription	NH-A	brain
41	chr1:180447800-180469000	Weak transcription	Brain Cingulate Gyrus	brain
42	chr1:180448200-180454400	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr1:180448400-180454200	Weak transcription	Fetal Lung	lung
44	chr1:180448400-180454600	Weak transcription	Stomach Smooth Muscle	stomach
45	chr1:180448400-180470200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr1:180448600-180454200	Weak transcription	HSMM	muscle
47	chr1:180448600-180455200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:180448800-180454400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr1:180448800-180460800	Weak transcription	Brain Germinal Matrix	brain
50	chr1:180449000-180453000	Weak transcription	GM12878-XiMat	blood

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