Variant report

Variant	rs2173728
Chromosome Location	chr19:21599880-21599881
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 131 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:115)

rs_ID	r²[population]
rs10405716	0.86[ASN][1000 genomes]
rs1055753	0.86[ASN][1000 genomes]
rs10854043	0.82[ASN][1000 genomes]
rs11085443	0.81[ASN][1000 genomes]
rs11085447	0.85[ASN][1000 genomes]
rs1142653	0.83[ASN][1000 genomes]
rs11667770	0.86[ASN][1000 genomes]
rs11668691	0.87[ASN][1000 genomes]
rs11673304	0.82[ASN][1000 genomes]
rs11673406	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12151067	0.82[EUR][1000 genomes]
rs12151068	0.82[EUR][1000 genomes]
rs12971736	0.81[ASN][1000 genomes]
rs12972580	0.83[ASN][1000 genomes]
rs12974735	0.82[ASN][1000 genomes]
rs12975081	0.83[ASN][1000 genomes]
rs12975464	0.82[ASN][1000 genomes]
rs12975981	0.80[EUR][1000 genomes]
rs12979646	0.88[ASN][1000 genomes]
rs12981564	0.83[ASN][1000 genomes]
rs12981735	0.83[ASN][1000 genomes]
rs12981775	0.83[ASN][1000 genomes]
rs12982162	0.83[ASN][1000 genomes]
rs12982282	0.83[ASN][1000 genomes]
rs12983787	0.86[ASN][1000 genomes]
rs12984871	0.83[ASN][1000 genomes]
rs1813234	0.84[ASN][1000 genomes]
rs1963531	0.81[ASN][1000 genomes]
rs1963532	0.82[ASN][1000 genomes]
rs1976384	0.86[ASN][1000 genomes]
rs2012013	0.82[ASN][1000 genomes]
rs2012038	0.82[ASN][1000 genomes]
rs2061917	0.82[ASN][1000 genomes]
rs2061918	0.81[ASN][1000 genomes]
rs2061919	0.81[ASN][1000 genomes]
rs2086318	0.80[ASN][1000 genomes]
rs2086320	0.85[ASN][1000 genomes]
rs2088762	0.83[ASN][1000 genomes]
rs2102072	0.84[ASN][1000 genomes]
rs2127404	0.83[ASN][1000 genomes]
rs2127405	0.83[ASN][1000 genomes]
rs2127406	0.83[ASN][1000 genomes]
rs2127407	0.83[ASN][1000 genomes]
rs2127408	0.83[ASN][1000 genomes]
rs2133819	0.81[ASN][1000 genomes]
rs2170024	0.85[ASN][1000 genomes]
rs2170025	0.85[ASN][1000 genomes]
rs2219840	0.83[ASN][1000 genomes]
rs2262896	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2358984	0.85[ASN][1000 genomes]
rs2358985	0.80[ASN][1000 genomes]
rs2358986	0.83[ASN][1000 genomes]
rs2358988	0.83[ASN][1000 genomes]
rs2358989	0.84[ASN][1000 genomes]
rs2358990	0.83[ASN][1000 genomes]
rs2358991	0.85[ASN][1000 genomes]
rs2358992	0.85[ASN][1000 genomes]
rs2434997	0.85[ASN][1000 genomes]
rs2650774	0.81[ASN][1000 genomes]
rs2650775	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2650810	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2650845	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2650847	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2884601	0.80[ASN][1000 genomes]
rs2914629	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2914638	0.85[ASN][1000 genomes]
rs2928208	0.85[ASN][1000 genomes]
rs2937161	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34560125	0.82[EUR][1000 genomes]
rs35773446	0.86[ASN][1000 genomes]
rs35829872	0.84[ASN][1000 genomes]
rs4315457	0.83[ASN][1000 genomes]
rs4341872	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4438422	0.84[ASN][1000 genomes]
rs4461198	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56080558	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6511228	0.84[ASN][1000 genomes]
rs6511229	0.81[ASN][1000 genomes]
rs6511231	0.83[ASN][1000 genomes]
rs6511232	0.83[ASN][1000 genomes]
rs6511233	0.83[ASN][1000 genomes]
rs6511237	0.82[ASN][1000 genomes]
rs6511238	0.86[ASN][1000 genomes]
rs6511239	0.86[ASN][1000 genomes]
rs6511242	0.86[ASN][1000 genomes]
rs6511245	0.87[ASN][1000 genomes]
rs6511246	0.87[ASN][1000 genomes]
rs67723811	0.81[EUR][1000 genomes]
rs7245920	0.83[ASN][1000 genomes]
rs7247411	0.85[ASN][1000 genomes]
rs7248601	0.86[ASN][1000 genomes]
rs7249412	0.86[ASN][1000 genomes]
rs7252873	0.84[ASN][1000 genomes]
rs7254059	0.86[ASN][1000 genomes]
rs7257580	0.85[ASN][1000 genomes]
rs7257857	0.85[ASN][1000 genomes]
rs7258086	0.85[ASN][1000 genomes]
rs7258335	0.83[ASN][1000 genomes]
rs7259311	0.87[ASN][1000 genomes]
rs7508092	0.81[ASN][1000 genomes]
rs7508671	0.83[ASN][1000 genomes]
rs8099940	0.83[ASN][1000 genomes]
rs8102328	0.85[ASN][1000 genomes]
rs8102342	0.81[ASN][1000 genomes]
rs8103325	0.83[ASN][1000 genomes]
rs8103459	0.83[ASN][1000 genomes]
rs8103908	0.83[ASN][1000 genomes]
rs8104017	0.82[ASN][1000 genomes]
rs8106936	0.83[ASN][1000 genomes]
rs8110230	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8110690	0.83[ASN][1000 genomes]
rs8110967	0.80[ASN][1000 genomes]
rs8111549	0.80[ASN][1000 genomes]
rs8112583	0.83[ASN][1000 genomes]
rs8113558	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3518033	chr19:21278465-21747567	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv3518034	chr19:21278465-21747567	ZNF genes & repeats Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv3414204	chr19:21301761-21839451	ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv3325271	chr19:21445407-21792817	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv911420	chr19:21454672-21613397	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	esv2751783	chr19:21465822-21726337	Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS 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 target site	31 gene(s)	inside rSNPs	diseases
7	esv3363678	chr19:21483148-21756908	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers 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 miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv578952	chr19:21535707-21868584	Genic enhancers Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
9	esv1793996	chr19:21544242-21609607	Active TSS Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	esv1801985	chr19:21544242-21609607	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	esv1844586	chr19:21544242-21609607	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	esv1834499	chr19:21557835-21609607	Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	esv1834993	chr19:21557835-21609607	Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv911421	chr19:21579718-21613397	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	n/a
15	nsv578953	chr19:21586797-21609607	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
16	nsv578954	chr19:21587261-21604510	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2173728	ZNF738	Cis_1M	lymphoblastoid	RTeQTL
rs2173728	RP11-678G14.2	cis	Skin Sun Exposed Lower leg	GTEx
rs2173728	ZNF493	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21580600-21600200	Weak transcription	Gastric	stomach
2	chr19:21580600-21602400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr19:21581600-21601800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr19:21581800-21607000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr19:21585000-21614000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr19:21590000-21600200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr19:21590200-21606400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
8	chr19:21590600-21608200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
9	chr19:21590800-21601200	Strong transcription	Ovary	ovary
10	chr19:21591800-21607000	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
11	chr19:21592800-21601200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr19:21593200-21602400	Weak transcription	HSMM	muscle
13	chr19:21593400-21610200	ZNF genes & repeats	Liver	Liver
14	chr19:21593600-21606600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr19:21594000-21600400	Strong transcription	Left Ventricle	heart
16	chr19:21594200-21601200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
17	chr19:21595000-21601400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr19:21595400-21601200	Strong transcription	H1 Cell Line	embryonic stem cell
19	chr19:21595400-21601400	Strong transcription	Fetal Intestine Large	intestine
20	chr19:21596600-21600200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr19:21596600-21600800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr19:21596800-21601200	Weak transcription	Fetal Muscle Leg	muscle
23	chr19:21597000-21600800	Weak transcription	Pancreas	Pancrea
24	chr19:21597000-21601000	Weak transcription	Placenta	Placenta
25	chr19:21597000-21601200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr19:21597000-21602200	Weak transcription	HSMMtube	muscle
27	chr19:21597200-21600000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr19:21597200-21600000	Weak transcription	Brain Substantia Nigra	brain
29	chr19:21597200-21600000	Weak transcription	Fetal Lung	lung
30	chr19:21597200-21600400	Weak transcription	Brain Cingulate Gyrus	brain
31	chr19:21597200-21600400	Weak transcription	Lung	lung
32	chr19:21597200-21601200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr19:21597200-21601800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr19:21597200-21602400	Weak transcription	Rectal Smooth Muscle	rectum
35	chr19:21597600-21600200	Weak transcription	Stomach Smooth Muscle	stomach
36	chr19:21597600-21600800	Strong transcription	Primary T cells from cord blood	blood
37	chr19:21597600-21600800	Weak transcription	Aorta	Aorta
38	chr19:21597600-21601000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr19:21597600-21602400	Weak transcription	Right Ventricle	heart
40	chr19:21597800-21600200	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr19:21597800-21601000	Weak transcription	Brain Angular Gyrus	brain
42	chr19:21597800-21601200	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr19:21597800-21601800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr19:21598000-21602000	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr19:21598200-21601400	Strong transcription	Brain Hippocampus Middle	brain
46	chr19:21598400-21601600	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr19:21598600-21600000	Weak transcription	Primary B cells from cord blood	blood
48	chr19:21598600-21600000	Weak transcription	Fetal Brain Male	brain
49	chr19:21598600-21600200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr19:21598600-21600200	Weak transcription	Dnd41	blood

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