Variant report

Variant	rs57529227
Chromosome Location	chr4:151195227-151195228
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10003215	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10004618	0.86[AMR][1000 genomes]
rs10007367	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10007538	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10010611	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10018151	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10222778	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10471054	0.85[AMR][1000 genomes]
rs1080194	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12331959	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13136928	0.85[AMR][1000 genomes]
rs1546417	0.85[AMR][1000 genomes]
rs17632215	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17688556	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17688594	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2055688	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2359928	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28885675	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4696085	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4696647	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56145629	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59545554	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6535732	0.81[AMR][1000 genomes]
rs6535733	0.85[AMR][1000 genomes]
rs7657948	0.81[AMR][1000 genomes]
rs7659675	0.81[AMR][1000 genomes]
rs7672419	0.88[AMR][1000 genomes]
rs7687678	0.81[AMR][1000 genomes]
rs7691809	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026797	chr4:150246932-151217137	Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv932022	chr4:150831733-151419552	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1032689	chr4:150971003-151316856	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv537300	chr4:150971003-151316856	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv880256	chr4:151126725-151751369	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv880257	chr4:151170387-151231371	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151166400-151199000	Weak transcription	Gastric	stomach
2	chr4:151170000-151199000	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr4:151172800-151201600	Weak transcription	GM12878-XiMat	blood
4	chr4:151173400-151201400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:151176400-151202800	Weak transcription	Psoas Muscle	Psoas
6	chr4:151178200-151204200	Weak transcription	Colonic Mucosa	Colon
7	chr4:151178400-151201400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr4:151178400-151201600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr4:151178400-151208600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr4:151180000-151198800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr4:151180200-151197800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr4:151180400-151201200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr4:151181200-151195400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr4:151181400-151198800	Weak transcription	Spleen	Spleen
15	chr4:151181400-151201800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr4:151181600-151198600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr4:151181600-151202000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr4:151181600-151202000	Weak transcription	Fetal Kidney	kidney
19	chr4:151181600-151203400	Weak transcription	Right Ventricle	heart
20	chr4:151181800-151201600	Weak transcription	Brain Angular Gyrus	brain
21	chr4:151181800-151209000	Weak transcription	Brain Cingulate Gyrus	brain
22	chr4:151182000-151198800	Weak transcription	Esophagus	oesophagus
23	chr4:151182000-151201200	Weak transcription	Fetal Heart	heart
24	chr4:151182600-151208000	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr4:151184600-151199000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr4:151184800-151209200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr4:151185000-151202000	Weak transcription	K562	blood
28	chr4:151186200-151198200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr4:151186200-151200800	Weak transcription	NHLF	lung
30	chr4:151186200-151208000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr4:151186400-151204800	Weak transcription	Placenta	Placenta
32	chr4:151187200-151199000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr4:151187400-151198800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr4:151187600-151198800	Weak transcription	Thymus	Thymus
35	chr4:151187600-151199000	Weak transcription	Rectal Smooth Muscle	rectum
36	chr4:151187600-151200400	Weak transcription	HSMM	muscle
37	chr4:151187600-151202000	Weak transcription	Left Ventricle	heart
38	chr4:151187600-151206000	Weak transcription	Dnd41	blood
39	chr4:151187800-151198600	Weak transcription	Fetal Thymus	thymus
40	chr4:151187800-151199400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr4:151187800-151200400	Weak transcription	NH-A	brain
42	chr4:151187800-151200400	Weak transcription	Osteobl	bone
43	chr4:151187800-151200600	Weak transcription	HSMMtube	muscle
44	chr4:151187800-151201400	Weak transcription	Brain Hippocampus Middle	brain
45	chr4:151187800-151202400	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr4:151188000-151200200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr4:151188000-151200200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr4:151188000-151201400	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr4:151188600-151201400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr4:151189000-151198400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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