Variant report

Variant	rs10407712
Chromosome Location	chr19:37468739-37468740
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10401417	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10404981	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10405238	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10405984	0.82[AFR][1000 genomes]
rs10408534	0.91[ASN][1000 genomes]
rs10409206	0.86[ASN][1000 genomes]
rs10410594	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10411251	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10411931	0.86[AFR][1000 genomes]
rs10412863	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10416960	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10420859	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10424100	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12710052	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12977971	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12981965	0.90[ASN][1000 genomes]
rs13345489	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1551025	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1623097	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1624293	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1628959	0.82[EUR][1000 genomes]
rs1644664	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1644701	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1644702	0.83[EUR][1000 genomes]
rs1644704	0.83[EUR][1000 genomes]
rs1667357	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1667359	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16971850	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17639910	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17707101	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2595552	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28495495	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28542490	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28555503	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28608841	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28655720	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34791663	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35881914	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3816390	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3816391	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4805191	0.86[AFR][1000 genomes]
rs4805192	0.84[AFR][1000 genomes]
rs4806376	0.83[ASN][1000 genomes]
rs4806377	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4806386	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62113193	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62115612	0.83[ASN][1000 genomes]
rs62115615	0.85[ASN][1000 genomes]
rs6510572	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71266562	0.94[ASN][1000 genomes]
rs71356024	0.98[ASN][1000 genomes]
rs7249013	0.87[ASN][1000 genomes]
rs7250498	0.94[ASN][1000 genomes]
rs7251087	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7252797	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8112709	0.90[EUR][1000 genomes]
rs997516	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][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	nsv1064851	chr19:36910259-37689721	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv1065698	chr19:36916796-37690124	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv543999	chr19:36916796-37690124	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers 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	61 gene(s)	inside rSNPs	diseases
4	nsv529817	chr19:36930549-37654062	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription 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	73 gene(s)	inside rSNPs	diseases
6	nsv521605	chr19:37261810-37483444	ZNF genes & repeats Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	esv3507199	chr19:37284708-37805639	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers 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	27 gene(s)	inside rSNPs	diseases
8	esv3507200	chr19:37284708-37805639	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers 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	27 gene(s)	inside rSNPs	diseases
9	esv3497360	chr19:37290273-37745365	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription 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 miRNA target site	25 gene(s)	inside rSNPs	diseases
10	esv3497361	chr19:37290273-37745365	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
11	nsv458568	chr19:37325826-37747108	Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
12	nsv579461	chr19:37325826-37747108	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
13	nsv523848	chr19:37357289-37487632	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
14	nsv833818	chr19:37427808-37602800	Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
15	nsv579463	chr19:37437106-37488055	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
16	nsv911652	chr19:37437106-37774299	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37464800-37469200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr19:37464800-37470400	Weak transcription	HSMM	muscle
3	chr19:37464800-37470600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr19:37464800-37473600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr19:37464800-37482000	Weak transcription	HSMMtube	muscle
6	chr19:37465000-37468800	Weak transcription	Gastric	stomach
7	chr19:37465000-37468800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr19:37465000-37469000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr19:37465000-37469200	Weak transcription	Primary B cells from cord blood	blood
10	chr19:37465000-37469200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr19:37465000-37469200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr19:37465000-37469600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr19:37465000-37470200	Weak transcription	Psoas Muscle	Psoas
14	chr19:37465000-37470200	Weak transcription	Osteobl	bone
15	chr19:37465000-37471600	Weak transcription	Brain Substantia Nigra	brain
16	chr19:37465000-37471600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr19:37465000-37471600	Weak transcription	Thymus	Thymus
18	chr19:37465000-37473600	Weak transcription	Small Intestine	intestine
19	chr19:37465000-37487200	Weak transcription	Placenta	Placenta
20	chr19:37465200-37468800	Weak transcription	Adipose Nuclei	Adipose
21	chr19:37465200-37468800	Weak transcription	Pancreas	Pancrea
22	chr19:37465200-37469200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr19:37465200-37470200	Weak transcription	Brain Anterior Caudate	brain
24	chr19:37465200-37470800	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr19:37465200-37471200	Weak transcription	Colon Smooth Muscle	Colon
26	chr19:37465200-37471200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr19:37465200-37471400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr19:37465200-37471600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr19:37465200-37473000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr19:37465200-37473600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr19:37465200-37476800	Weak transcription	NH-A	brain
32	chr19:37465200-37481800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr19:37465200-37482600	Weak transcription	Right Ventricle	heart
34	chr19:37465400-37468800	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr19:37465400-37469000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr19:37465400-37469800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr19:37465400-37471600	Weak transcription	Brain Angular Gyrus	brain
38	chr19:37465400-37473800	Weak transcription	Spleen	Spleen
39	chr19:37465400-37483400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr19:37465400-37483600	Weak transcription	Fetal Heart	heart
41	chr19:37465600-37468800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr19:37465600-37469200	Weak transcription	Fetal Brain Male	brain
43	chr19:37465600-37469600	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr19:37465600-37470000	Weak transcription	Brain Germinal Matrix	brain
45	chr19:37465600-37474200	Weak transcription	Colonic Mucosa	Colon
46	chr19:37465600-37482400	Weak transcription	Fetal Kidney	kidney
47	chr19:37466400-37472800	Strong transcription	Fetal Muscle Trunk	muscle
48	chr19:37466800-37471600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr19:37466800-37472000	Strong transcription	Fetal Intestine Large	intestine
50	chr19:37467000-37469000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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