Variant report

Variant	rs72903391
Chromosome Location	chr18:44352127-44352128
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs55633240	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs55650860	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs55754830	0.93[EUR][1000 genomes]
rs55877804	1.00[AFR][1000 genomes]
rs55929919	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs56009869	1.00[AFR][1000 genomes]
rs56010507	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs56050035	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs56109213	1.00[AFR][1000 genomes]
rs56119924	0.80[EUR][1000 genomes]
rs56138442	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs56142565	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs56148866	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs56163470	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs56169983	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs56236054	1.00[AFR][1000 genomes]
rs56299848	1.00[AFR][1000 genomes]
rs61743415	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs61743594	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs72903352	1.00[AFR][1000 genomes]
rs72903388	1.00[AFR][1000 genomes]
rs72905218	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72905234	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72905239	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72905257	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72905263	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72905266	1.00[AFR][1000 genomes]
rs72905286	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72905296	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72905301	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72907111	0.93[EUR][1000 genomes]
rs72907120	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72907122	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72907125	0.93[EUR][1000 genomes]
rs72907137	1.00[AFR][1000 genomes]
rs72907140	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72907146	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72907148	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72907151	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72907152	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72907162	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72907165	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72907174	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72909104	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs72909181	1.00[AFR][1000 genomes]
rs72909200	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs72911116	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs72911123	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs72913049	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs72913052	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs72913066	0.80[EUR][1000 genomes]
rs72913075	0.80[EUR][1000 genomes]
rs72913087	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs72915064	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs72915071	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs72917106	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs72917111	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs72917116	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs72917122	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs72917167	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs72917200	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs72917202	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs72919218	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs72919221	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs72919226	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs72919229	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs72919238	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs72919241	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs72919260	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs72919265	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs72919273	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs72919278	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs72919289	0.80[EUR][1000 genomes]
rs72919290	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs72919296	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs72921303	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs72921305	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs72921319	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs8083773	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428355	chr18:44160181-44406285	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv9629	chr18:44264693-44757511	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv909591	chr18:44279892-44370518	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv909592	chr18:44279892-44385150	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv909593	chr18:44279892-44396246	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv909594	chr18:44279892-44400621	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv909595	chr18:44279892-44422661	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv909597	chr18:44291419-44385150	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv909598	chr18:44291419-44422661	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
10	nsv909599	chr18:44294722-44385150	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv909600	chr18:44294722-44396246	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
12	nsv909601	chr18:44294722-44400621	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
13	nsv909602	chr18:44294722-44422661	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
14	nsv909604	chr18:44300281-44370518	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv909605	chr18:44316719-44422661	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
16	nsv909606	chr18:44318548-44422661	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
17	nsv909607	chr18:44320836-44422661	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
18	nsv909608	chr18:44335724-44422661	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
19	nsv1056282	chr18:44351115-44388233	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44347800-44353600	Enhancers	Brain Germinal Matrix	brain
2	chr18:44348200-44352200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr18:44349400-44353200	Weak transcription	HSMMtube	muscle
4	chr18:44349600-44353000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr18:44349600-44381600	Weak transcription	Psoas Muscle	Psoas
6	chr18:44349800-44352800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr18:44349800-44353000	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr18:44349800-44353200	Weak transcription	Right Ventricle	heart
9	chr18:44350000-44357600	Weak transcription	Left Ventricle	heart
10	chr18:44350200-44352400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr18:44350600-44352400	Enhancers	Primary hematopoietic stem cells	blood
12	chr18:44350600-44352400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr18:44350600-44352600	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr18:44350600-44352800	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr18:44350800-44352200	Enhancers	Fetal Brain Male	brain
16	chr18:44350800-44352800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr18:44350800-44352800	Enhancers	Fetal Heart	heart
18	chr18:44350800-44353000	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr18:44351000-44353200	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr18:44351200-44352400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr18:44351200-44352600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr18:44351200-44352800	Enhancers	Brain Cingulate Gyrus	brain
23	chr18:44351400-44352400	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr18:44351400-44352600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr18:44351400-44353200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr18:44351400-44353800	Enhancers	Fetal Muscle Leg	muscle
27	chr18:44351400-44354000	Enhancers	H1 Cell Line	embryonic stem cell
28	chr18:44351400-44354400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr18:44351800-44352200	Weak transcription	Right Atrium	heart
30	chr18:44351800-44352800	Weak transcription	Fetal Muscle Trunk	muscle
31	chr18:44351800-44352800	Enhancers	GM12878-XiMat	blood
32	chr18:44351800-44354000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr18:44352000-44352200	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr18:44352000-44352600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr18:44352000-44353400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr18:44352000-44354400	Enhancers	iPS-15b Cell Line	embryonic stem cell

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