Variant report

Variant	rs2164988
Chromosome Location	chr19:21237915-21237916
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 160 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:148)

rs_ID	r²[population]
rs10164375	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10401931	0.92[ASN][1000 genomes]
rs10403266	0.81[ASN][1000 genomes]
rs10405180	0.83[ASN][1000 genomes]
rs10405218	0.89[ASN][1000 genomes]
rs10406661	0.91[ASN][1000 genomes]
rs10409844	0.95[ASN][1000 genomes]
rs10409877	0.83[ASN][1000 genomes]
rs10410901	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10411038	0.89[ASN][1000 genomes]
rs10412267	0.92[ASN][1000 genomes]
rs10412688	0.88[ASN][1000 genomes]
rs10413175	0.92[ASN][1000 genomes]
rs10413692	0.88[ASN][1000 genomes]
rs10413983	0.92[ASN][1000 genomes]
rs10414134	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10417165	0.89[ASN][1000 genomes]
rs10418706	0.82[ASN][1000 genomes]
rs10421392	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10421819	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10422193	0.85[ASN][1000 genomes]
rs10423541	0.82[ASN][1000 genomes]
rs10424283	0.92[ASN][1000 genomes]
rs10425969	0.95[ASN][1000 genomes]
rs10454116	0.83[ASN][1000 genomes]
rs11085424	0.89[ASN][1000 genomes]
rs11085431	0.83[ASN][1000 genomes]
rs11666640	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11666869	0.80[ASN][1000 genomes]
rs11667674	0.80[ASN][1000 genomes]
rs11668952	0.80[ASN][1000 genomes]
rs11670162	0.92[ASN][1000 genomes]
rs11671397	0.80[ASN][1000 genomes]
rs11671894	0.86[ASN][1000 genomes]
rs11672142	0.95[ASN][1000 genomes]
rs11672727	0.80[ASN][1000 genomes]
rs11672747	0.80[ASN][1000 genomes]
rs11878599	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12104220	0.92[ASN][1000 genomes]
rs12104387	0.83[ASN][1000 genomes]
rs12608706	0.90[ASN][1000 genomes]
rs12609005	0.95[ASN][1000 genomes]
rs12609167	0.95[ASN][1000 genomes]
rs12609510	0.86[ASN][1000 genomes]
rs12609831	0.89[ASN][1000 genomes]
rs12611115	0.88[ASN][1000 genomes]
rs12973640	0.92[ASN][1000 genomes]
rs12973921	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12974016	0.89[ASN][1000 genomes]
rs12975789	0.89[ASN][1000 genomes]
rs12976796	0.85[ASN][1000 genomes]
rs12981855	0.94[ASN][1000 genomes]
rs1470021	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1470022	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1609441	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1968523	0.92[ASN][1000 genomes]
rs1971815	0.84[ASN][1000 genomes]
rs2013048	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2081050	0.88[ASN][1000 genomes]
rs2081054	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2081057	0.83[ASN][1000 genomes]
rs2082003	0.81[ASN][1000 genomes]
rs2098681	0.87[ASN][1000 genomes]
rs2099648	0.82[ASN][1000 genomes]
rs2115494	0.80[ASN][1000 genomes]
rs2115495	0.80[ASN][1000 genomes]
rs2164989	0.95[ASN][1000 genomes]
rs2195453	0.80[ASN][1000 genomes]
rs2195454	0.80[ASN][1000 genomes]
rs2358792	0.87[ASN][1000 genomes]
rs2358795	0.89[ASN][1000 genomes]
rs2358803	0.80[ASN][1000 genomes]
rs2358804	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2884548	0.83[ASN][1000 genomes]
rs2884554	0.83[ASN][1000 genomes]
rs35137761	0.89[ASN][1000 genomes]
rs4255903	0.83[ASN][1000 genomes]
rs4292035	0.86[ASN][1000 genomes]
rs4365405	0.88[ASN][1000 genomes]
rs4488591	0.92[ASN][1000 genomes]
rs4808273	0.91[EUR][1000 genomes]
rs4808275	0.89[ASN][1000 genomes]
rs4808276	0.80[ASN][1000 genomes]
rs4809119	0.92[ASN][1000 genomes]
rs4809122	0.86[ASN][1000 genomes]
rs6511181	0.88[ASN][1000 genomes]
rs6511183	0.95[ASN][1000 genomes]
rs6511184	0.95[ASN][1000 genomes]
rs6511185	0.87[ASN][1000 genomes]
rs6511186	0.92[ASN][1000 genomes]
rs6511187	0.86[ASN][1000 genomes]
rs6511188	0.92[ASN][1000 genomes]
rs6511191	0.89[ASN][1000 genomes]
rs6511192	0.89[ASN][1000 genomes]
rs6511194	0.89[ASN][1000 genomes]
rs6511195	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6511196	0.83[ASN][1000 genomes]
rs6511198	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6511199	0.80[ASN][1000 genomes]
rs6511200	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6511201	0.80[ASN][1000 genomes]
rs7246723	0.92[ASN][1000 genomes]
rs7247413	0.89[ASN][1000 genomes]
rs7247553	0.82[ASN][1000 genomes]
rs7248087	0.87[ASN][1000 genomes]
rs7248410	0.89[ASN][1000 genomes]
rs7249283	0.95[ASN][1000 genomes]
rs7249736	0.92[ASN][1000 genomes]
rs7250169	0.92[ASN][1000 genomes]
rs7252277	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7253530	0.89[ASN][1000 genomes]
rs7253950	0.86[ASN][1000 genomes]
rs7254047	0.92[ASN][1000 genomes]
rs7254053	0.91[ASN][1000 genomes]
rs7254722	0.86[ASN][1000 genomes]
rs7254768	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7254982	0.91[ASN][1000 genomes]
rs7257481	0.92[ASN][1000 genomes]
rs7258195	0.92[ASN][1000 genomes]
rs7258409	0.92[ASN][1000 genomes]
rs7258477	0.83[ASN][1000 genomes]
rs7258831	0.81[ASN][1000 genomes]
rs7259653	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7260268	0.92[ASN][1000 genomes]
rs7260600	0.92[ASN][1000 genomes]
rs7343175	0.80[ASN][1000 genomes]
rs741674	0.86[ASN][1000 genomes]
rs741676	0.86[ASN][1000 genomes]
rs8100289	0.83[ASN][1000 genomes]
rs8100599	0.92[ASN][1000 genomes]
rs8101222	0.83[ASN][1000 genomes]
rs8101412	0.92[ASN][1000 genomes]
rs8101461	0.83[ASN][1000 genomes]
rs8102966	0.83[ASN][1000 genomes]
rs8103696	0.89[ASN][1000 genomes]
rs8103825	0.89[ASN][1000 genomes]
rs8106801	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8106923	0.86[ASN][1000 genomes]
rs8107638	0.89[ASN][1000 genomes]
rs8107982	0.95[ASN][1000 genomes]
rs8111827	0.83[ASN][1000 genomes]
rs8112054	0.95[ASN][1000 genomes]
rs8112216	0.95[ASN][1000 genomes]
rs8112500	0.89[ASN][1000 genomes]
rs8182465	0.89[ASN][1000 genomes]
rs9304980	0.95[ASN][1000 genomes]
rs9304982	0.83[ASN][1000 genomes]
rs9941463	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062776	chr19:20818886-21273361	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv932110	chr19:20818886-21278952	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Genic 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 miRNA target site	32 gene(s)	inside rSNPs	diseases
3	esv2763043	chr19:20818886-21290543	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	esv3385528	chr19:21030777-21495566	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS 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 miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv817536	chr19:21041855-21348237	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription ZNF genes & repeats Flanking 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	25 gene(s)	inside rSNPs	diseases
6	esv1850387	chr19:21109758-21294264	Active TSS ZNF genes & repeats Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv911411	chr19:21184533-21263518	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv578949	chr19:21190572-21244049	ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	nsv960811	chr19:21200306-21371757	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
10	esv3399352	chr19:21232738-21423323	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
11	esv1805898	chr19:21233245-21256249	Strong transcription ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
12	nsv911412	chr19:21233388-21297358	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21204400-21264800	Weak transcription	Right Ventricle	heart
2	chr19:21204600-21239800	Weak transcription	Colon Smooth Muscle	Colon
3	chr19:21206200-21241600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr19:21207200-21239400	Weak transcription	Hela-S3	cervix
5	chr19:21212000-21241400	Weak transcription	Fetal Heart	heart
6	chr19:21221400-21242000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr19:21222400-21242200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr19:21223000-21244200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr19:21227400-21241400	ZNF genes & repeats	GM12878-XiMat	blood
10	chr19:21227800-21247200	Weak transcription	HepG2	liver
11	chr19:21230600-21248400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr19:21230800-21238600	Weak transcription	NHLF	lung
13	chr19:21230800-21240400	Weak transcription	HSMMtube	muscle
14	chr19:21230800-21243000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr19:21231000-21238200	Weak transcription	Stomach Mucosa	stomach
16	chr19:21231000-21239000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr19:21231600-21239400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
18	chr19:21231600-21241000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
19	chr19:21231600-21241600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
20	chr19:21231800-21238600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr19:21231800-21244600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr19:21232200-21238200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr19:21232200-21241000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
24	chr19:21232200-21241000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
25	chr19:21232200-21241200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
26	chr19:21232200-21242200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr19:21232200-21242400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
28	chr19:21232200-21243600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr19:21232600-21238000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr19:21232600-21238400	Weak transcription	Gastric	stomach
31	chr19:21232800-21241000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr19:21233800-21238200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr19:21233800-21238800	Weak transcription	Fetal Brain Male	brain
34	chr19:21234200-21242400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr19:21234600-21241400	ZNF genes & repeats	Primary T cells from cord blood	blood
36	chr19:21234800-21238400	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr19:21235000-21241200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
38	chr19:21235200-21238400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr19:21235200-21239600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr19:21235200-21239800	ZNF genes & repeats	Dnd41	blood
41	chr19:21235200-21240200	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
42	chr19:21235200-21242000	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr19:21235200-21242600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr19:21235400-21238400	Strong transcription	HSMM	muscle
45	chr19:21235400-21240000	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
46	chr19:21235400-21241000	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
47	chr19:21235400-21241000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
48	chr19:21235400-21241000	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
49	chr19:21235400-21243200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr19:21235600-21238000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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