Variant report

Variant	rs29988
Chromosome Location	chr19:23523616-23523617
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10415339	1.00[CEU][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10417541	1.00[CEU][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1044095	0.84[CEU][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10854068	0.89[CEU][hapmap];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11879939	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs167154	0.89[AFR][1000 genomes]
rs1821845	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2127370	0.89[CEU][hapmap];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2885846	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs293895	0.90[ASN][1000 genomes]
rs295392	0.86[AFR][1000 genomes]
rs295409	0.88[AFR][1000 genomes]
rs295412	0.85[AFR][1000 genomes]
rs295413	0.82[AFR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs295418	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs296083	0.83[AFR][1000 genomes]
rs29983	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs29984	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs29985	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs29986	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs29989	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs29990	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs36119092	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs40561	0.89[CEU][hapmap];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs423265	0.92[ASN][1000 genomes]
rs426564	0.85[AFR][1000 genomes]
rs429771	0.90[ASN][1000 genomes]
rs431270	0.90[ASN][1000 genomes]
rs604495	0.89[CEU][hapmap];0.87[ASN][1000 genomes]
rs6511434	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs771701	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34470	chr19:22922549-23659458	ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	80 gene(s)	inside rSNPs	diseases
2	esv34907	chr19:22922549-23683097	Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	80 gene(s)	inside rSNPs	diseases
3	nsv9686	chr19:22989454-23653750	Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	76 gene(s)	inside rSNPs	diseases
4	nsv817826	chr19:23000745-23620632	Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
5	esv3693269	chr19:23000745-23652839	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	76 gene(s)	inside rSNPs	diseases
6	esv2758491	chr19:23071299-23940467	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases
7	nsv1065157	chr19:23091826-23812323	Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
8	nsv543959	chr19:23091826-23812323	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
9	esv3429878	chr19:23246650-23590744	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
10	esv3410568	chr19:23246670-23590714	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
11	esv3433243	chr19:23249108-23585814	Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
12	esv3387823	chr19:23265885-23590028	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS 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	47 gene(s)	inside rSNPs	diseases
13	nsv579034	chr19:23387788-23610784	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
14	nsv833790	chr19:23405972-23557520	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
15	esv3332495	chr19:23451842-23598069	Active TSS Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
16	esv3319024	chr19:23456003-23598068	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
17	esv3319025	chr19:23456003-23598068	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
18	esv3447830	chr19:23465035-23610690	Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
19	esv3382338	chr19:23476728-23631356	Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
20	esv3323302	chr19:23477342-23648545	ZNF genes & repeats Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
21	esv3523857	chr19:23477614-23632199	ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
22	esv3523858	chr19:23477614-23632199	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:23506000-23548400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr19:23512400-23540400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr19:23512400-23548400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:23513200-23570400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr19:23513600-23527400	Weak transcription	Osteobl	bone
6	chr19:23518200-23525200	ZNF genes & repeats	Primary B cells from cord blood	blood
7	chr19:23518400-23535800	ZNF genes & repeats	Dnd41	blood
8	chr19:23519200-23526200	Weak transcription	HSMMtube	muscle
9	chr19:23519400-23524600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr19:23519400-23524800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr19:23519400-23524800	Weak transcription	HSMM	muscle
12	chr19:23519400-23526400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr19:23519400-23527400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr19:23519400-23530000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr19:23519800-23526200	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr19:23519800-23526400	Weak transcription	Pancreas	Pancrea
17	chr19:23520000-23524600	Weak transcription	Fetal Kidney	kidney
18	chr19:23520000-23526400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr19:23520000-23527400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr19:23521400-23525000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
21	chr19:23521400-23525800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr19:23521800-23524800	Weak transcription	NHDF-Ad	bronchial
23	chr19:23521800-23526000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr19:23521800-23526200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr19:23521800-23526400	Weak transcription	Placenta	Placenta
26	chr19:23521800-23527600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr19:23521800-23529400	Weak transcription	Right Ventricle	heart
28	chr19:23522000-23524000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr19:23522000-23526200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr19:23522000-23526400	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr19:23522200-23524600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr19:23522600-23523800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr19:23522600-23526400	Weak transcription	Left Ventricle	heart
34	chr19:23522600-23526600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr19:23522600-23527600	Weak transcription	Gastric	stomach
36	chr19:23522800-23523800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr19:23522800-23523800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr19:23522800-23523800	Weak transcription	Aorta	Aorta
39	chr19:23522800-23523800	Weak transcription	Fetal Intestine Small	intestine
40	chr19:23522800-23523800	Weak transcription	Fetal Stomach	stomach
41	chr19:23522800-23523800	Weak transcription	Ovary	ovary
42	chr19:23522800-23524000	Weak transcription	Thymus	Thymus
43	chr19:23522800-23524600	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr19:23522800-23525000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr19:23522800-23526400	Weak transcription	Colonic Mucosa	Colon
46	chr19:23523000-23535600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
47	chr19:23523400-23524200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr19:23523400-23524600	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr19:23523600-23526400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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