Variant report

Variant	rs12610331
Chromosome Location	chr19:21484524-21484525
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:21482877..21485011-chr19:21492555..21495180,2	K562	blood:

Extended variants
information (count: 143 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:131)

rs_ID	r²[population]
rs10405716	0.83[ASN][1000 genomes]
rs1055753	0.83[ASN][1000 genomes]
rs10854043	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11085441	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11085443	0.84[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs11085447	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1142653	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11667770	0.83[ASN][1000 genomes]
rs11668691	0.83[ASN][1000 genomes]
rs11669588	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11673304	0.81[EUR][1000 genomes]
rs11882553	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12459702	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12461384	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12462022	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12971736	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12972339	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12972580	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12972601	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12974735	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12975081	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12975464	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12978116	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12979646	0.80[ASN][1000 genomes]
rs12980097	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12981564	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12981735	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12981775	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12981777	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12982162	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12982282	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12982346	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12983426	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12983787	0.83[ASN][1000 genomes]
rs12984300	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12984871	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1781863	0.85[ASN][1000 genomes]
rs1781873	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1813234	0.87[ASN][1000 genomes]
rs1932088	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1963531	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1963532	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1976384	0.83[ASN][1000 genomes]
rs2012013	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2012038	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2061917	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2061918	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2061919	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2086317	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2086318	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2086320	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2088762	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2102072	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2127404	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2127405	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2127406	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2127407	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2127408	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2170024	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2170025	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2219840	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2358982	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2358983	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2358984	0.84[ASN][1000 genomes]
rs2358985	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2358986	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2358988	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2358989	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2358990	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2358991	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2358992	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2434997	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs279813	0.80[ASN][1000 genomes]
rs28688205	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2884601	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2914638	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2928208	0.84[ASN][1000 genomes]
rs2968025	0.84[EUR][1000 genomes]
rs35580411	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35773446	0.83[ASN][1000 genomes]
rs4315457	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4438422	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4525621	0.83[EUR][1000 genomes]
rs4566304	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6511222	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6511228	0.83[ASN][1000 genomes]
rs6511229	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6511231	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6511232	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6511233	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6511237	0.82[ASN][1000 genomes]
rs6511238	0.83[ASN][1000 genomes]
rs6511239	0.83[ASN][1000 genomes]
rs6511242	0.83[ASN][1000 genomes]
rs6511245	0.83[ASN][1000 genomes]
rs6511246	0.83[ASN][1000 genomes]
rs7245920	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7247411	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7248601	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7249412	0.83[ASN][1000 genomes]
rs7252261	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7252873	0.85[ASN][1000 genomes]
rs7253178	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7254059	0.83[ASN][1000 genomes]
rs7256361	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7257580	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7257857	0.85[ASN][1000 genomes]
rs7258086	0.84[ASN][1000 genomes]
rs7258335	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7259311	0.83[ASN][1000 genomes]
rs7260369	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7508030	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7508044	0.84[EUR][1000 genomes]
rs7508045	0.84[EUR][1000 genomes]
rs7508072	0.82[EUR][1000 genomes]
rs7508087	0.84[EUR][1000 genomes]
rs7508092	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7508104	0.86[EUR][1000 genomes]
rs7508671	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8099940	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8102328	0.84[ASN][1000 genomes]
rs8103325	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8103459	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8103908	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8104017	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8106936	0.83[ASN][1000 genomes]
rs8110690	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8110842	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8110967	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8112059	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8112583	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[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	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
2	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
3	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
4	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
5	nsv911415	chr19:21388995-21487170	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv911416	chr19:21388995-21548211	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats 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	12 gene(s)	inside rSNPs	diseases
7	nsv911417	chr19:21388995-21564001	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv911419	chr19:21391844-21487170	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	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
10	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
11	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
12	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

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21465000-21496000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr19:21465400-21484600	ZNF genes & repeats	Liver	Liver
3	chr19:21467200-21489600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr19:21472200-21487600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr19:21472200-21490400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr19:21473600-21487200	Weak transcription	Right Ventricle	heart
7	chr19:21473800-21510400	Weak transcription	Fetal Heart	heart
8	chr19:21474000-21490600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
9	chr19:21474400-21492400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr19:21474800-21509800	Weak transcription	Fetal Brain Male	brain
11	chr19:21475200-21485400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr19:21475200-21511200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr19:21476000-21490400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
14	chr19:21476000-21490400	Weak transcription	Hela-S3	cervix
15	chr19:21476200-21488200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr19:21476800-21487200	Weak transcription	Brain Angular Gyrus	brain
17	chr19:21476800-21497600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr19:21477000-21494400	Weak transcription	Stomach Mucosa	stomach
19	chr19:21477200-21495000	Weak transcription	Brain Cingulate Gyrus	brain
20	chr19:21477600-21495800	Weak transcription	HepG2	liver
21	chr19:21478000-21497400	Weak transcription	Colon Smooth Muscle	Colon
22	chr19:21478200-21487000	Weak transcription	Brain Substantia Nigra	brain
23	chr19:21478200-21487200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr19:21478200-21492600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr19:21478400-21500600	Weak transcription	Psoas Muscle	Psoas
26	chr19:21478600-21490600	Strong transcription	Fetal Lung	lung
27	chr19:21478600-21499200	Weak transcription	HMEC	breast
28	chr19:21480400-21486000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr19:21480400-21487800	Strong transcription	Adipose Nuclei	Adipose
30	chr19:21480600-21485400	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr19:21480600-21487800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr19:21480800-21490600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr19:21481000-21486200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr19:21481000-21500600	Weak transcription	NHLF	lung
35	chr19:21481200-21485600	Strong transcription	Placenta Amnion	Placenta Amnion
36	chr19:21481200-21493000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
37	chr19:21481400-21485800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr19:21481400-21488000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr19:21481600-21485200	Strong transcription	Placenta	Placenta
40	chr19:21481600-21487200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr19:21481600-21487200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr19:21481600-21500000	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr19:21481600-21500400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr19:21481600-21505600	Weak transcription	K562	blood
45	chr19:21481800-21484600	ZNF genes & repeats	Fetal Intestine Large	intestine
46	chr19:21481800-21484800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
47	chr19:21481800-21485600	Strong transcription	Pancreas	Pancrea
48	chr19:21481800-21486200	Weak transcription	NH-A	brain
49	chr19:21481800-21488400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr19:21481800-21488600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived

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