Variant report

Variant	rs7247729
Chromosome Location	chr19:19837946-19837947
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12985888	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34761854	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34893416	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4281843	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4499350	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55954125	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1828240	chr19:19591146-19900900	Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1063273	chr19:19591146-20061367	ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv3330851	chr19:19755507-19852881	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1065704	chr19:19797999-19865818	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv543929	chr19:19797999-19865818	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1062017	chr19:19803482-19865818	Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv543930	chr19:19803482-19865818	Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv1057601	chr19:19803482-19873623	ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers 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	14 gene(s)	inside rSNPs	diseases
9	nsv1063535	chr19:19806386-19863631	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv1062212	chr19:19806386-19869332	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv1060122	chr19:19814678-19879575	Bivalent Enhancer ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv2436	chr19:19815858-19869171	Weak transcription ZNF genes & repeats 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	11 gene(s)	inside rSNPs	diseases
13	nsv911311	chr19:19831544-19863284	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	esv11743	chr19:19832965-19839599	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv828479	chr19:19832965-19839690	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv512566	chr19:19833186-19840187	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	esv3395976	chr19:19833252-19840350	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	esv3318427	chr19:19833252-19841650	ZNF genes & repeats Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	nsv578790	chr19:19833347-19839439	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	nsv578791	chr19:19833627-19840768	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	nsv436259	chr19:19833686-19840914	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	esv3376479	chr19:19833702-19840800	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
23	nsv578792	chr19:19834231-19839439	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
24	esv3318429	chr19:19834279-19839732	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
25	esv3318428	chr19:19834281-19839750	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
26	esv3485700	chr19:19834283-19839745	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
27	esv3485701	chr19:19834283-19839745	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
28	esv3318426	chr19:19834430-19839667	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
29	nsv498894	chr19:19834443-19839666	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
30	esv3318431	chr19:19834444-19839666	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
31	nsv819368	chr19:19835552-19839767	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
32	esv3317809	chr19:19836977-19839825	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
33	esv3317810	chr19:19836977-19839825	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
34	nsv578794	chr19:19837029-19839079	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
35	nsv821501	chr19:19837606-19839690	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
36	esv17935	chr19:19837791-19839599	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
37	nsv828480	chr19:19837824-19839664	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
38	nsv578795	chr19:19837892-19839439	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19828400-19843200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr19:19828600-19838200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr19:19831000-19842600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr19:19831200-19843000	Weak transcription	NH-A	brain
5	chr19:19833200-19840400	Weak transcription	Fetal Kidney	kidney
6	chr19:19833200-19840600	Weak transcription	Fetal Brain Male	brain
7	chr19:19833200-19842600	Weak transcription	HSMM	muscle
8	chr19:19833400-19839800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr19:19833400-19842400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr19:19833800-19839400	Weak transcription	Fetal Lung	lung
11	chr19:19833800-19839600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr19:19835200-19841200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr19:19836400-19838200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr19:19836400-19842600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr19:19836600-19842800	Weak transcription	Osteobl	bone
16	chr19:19836800-19839800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
17	chr19:19836800-19841800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr19:19836800-19842400	ZNF genes & repeats	Fetal Muscle Leg	muscle
19	chr19:19837000-19839400	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr19:19837000-19841800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr19:19837000-19842400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr19:19837000-19842600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
23	chr19:19837200-19838000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr19:19837200-19838200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr19:19837200-19838200	ZNF genes & repeats	Ovary	ovary
26	chr19:19837200-19838400	ZNF genes & repeats	Rectal Smooth Muscle	rectum
27	chr19:19837200-19839800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
28	chr19:19837200-19841400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
29	chr19:19837200-19842800	ZNF genes & repeats	Fetal Intestine Small	intestine
30	chr19:19837400-19838200	ZNF genes & repeats	Fetal Stomach	stomach
31	chr19:19837400-19839000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
32	chr19:19837400-19840000	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
33	chr19:19837400-19840400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
34	chr19:19837400-19841000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
35	chr19:19837400-19841200	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
36	chr19:19837400-19841400	ZNF genes & repeats	Brain Anterior Caudate	brain
37	chr19:19837400-19842400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
38	chr19:19837400-19842800	ZNF genes & repeats	Fetal Brain Female	brain
39	chr19:19837600-19838000	Strong transcription	Primary T cells from cord blood	blood
40	chr19:19837600-19838200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr19:19837600-19838200	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
42	chr19:19837600-19839200	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
43	chr19:19837600-19840400	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
44	chr19:19837600-19841000	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
45	chr19:19837600-19841200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr19:19837600-19841200	ZNF genes & repeats	Brain Cingulate Gyrus	brain
47	chr19:19837600-19841400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
48	chr19:19837600-19841400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
49	chr19:19837600-19841600	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
50	chr19:19837600-19842200	ZNF genes & repeats	Dnd41	blood

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