Variant report

Variant	rs2435044
Chromosome Location	chr19:22024860-22024861
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11085493	0.80[ASN][1000 genomes]
rs12460775	0.95[ASN][1000 genomes]
rs12460998	0.93[ASN][1000 genomes]
rs12462709	0.82[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12463064	0.91[ASN][1000 genomes]
rs1510964	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17701366	0.95[ASN][1000 genomes]
rs2136890	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2244041	1.00[YRI][hapmap]
rs2435002	1.00[YRI][hapmap]
rs2435003	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2435005	1.00[YRI][hapmap]
rs2435006	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2435040	1.00[YRI][hapmap]
rs2435041	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2435045	1.00[YRI][hapmap]
rs2457773	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2457783	1.00[YRI][hapmap]
rs2457785	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2457789	1.00[YRI][hapmap]
rs2457790	1.00[YRI][hapmap]
rs2457802	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3764576	0.82[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs56904798	0.87[ASN][1000 genomes]
rs58664716	0.95[ASN][1000 genomes]
rs60272092	0.95[ASN][1000 genomes]
rs8111923	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3441368	chr19:21781459-22182822	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv3339694	chr19:21781479-22182792	Enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1063115	chr19:21782104-22528039	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	nsv911424	chr19:21798441-22471156	Strong transcription Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	nsv911425	chr19:21841379-22338142	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv833784	chr19:21902647-22037153	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS 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	9 gene(s)	inside rSNPs	diseases
7	nsv1059079	chr19:21940891-22083420	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	esv3395280	chr19:21968753-22202288	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv911428	chr19:21986292-22106951	Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv911429	chr19:21986292-22110219	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 Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv911430	chr19:22008229-22106951	ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv1062497	chr19:22013911-22102714	Genic enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv543949	chr19:22013911-22102714	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv917200	chr19:22020157-22101914	Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:22019000-22027800	Weak transcription	Small Intestine	intestine
2	chr19:22019000-22034200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr19:22019200-22025600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr19:22019200-22034000	Weak transcription	Colonic Mucosa	Colon
5	chr19:22019200-22034400	Weak transcription	Stomach Mucosa	stomach
6	chr19:22019400-22033600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr19:22019600-22025600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr19:22019600-22025600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr19:22019600-22025800	Weak transcription	Fetal Brain Male	brain
10	chr19:22019600-22026200	Weak transcription	Psoas Muscle	Psoas
11	chr19:22019600-22032800	Weak transcription	Right Atrium	heart
12	chr19:22019600-22033400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr19:22019600-22033600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr19:22019800-22025400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr19:22019800-22028000	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr19:22019800-22033600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr19:22020000-22032600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr19:22020200-22027800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr19:22020400-22032600	Strong transcription	H1 Cell Line	embryonic stem cell
20	chr19:22020400-22032600	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr19:22020400-22032600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr19:22020400-22033400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr19:22020400-22033400	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr19:22020600-22033400	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr19:22020600-22033400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr19:22021000-22025800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr19:22021200-22031600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr19:22021200-22032400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr19:22021200-22032800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr19:22021400-22029600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr19:22021400-22029600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr19:22021400-22033000	Strong transcription	Fetal Muscle Trunk	muscle
33	chr19:22021600-22026800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr19:22021600-22028200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr19:22021600-22029000	Strong transcription	Brain Germinal Matrix	brain
36	chr19:22021600-22030200	Strong transcription	Primary hematopoietic stem cells	blood
37	chr19:22021600-22031800	Strong transcription	Primary B cells from cord blood	blood
38	chr19:22021600-22032000	Strong transcription	Thymus	Thymus
39	chr19:22021600-22032400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr19:22021600-22032600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr19:22021600-22032600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
42	chr19:22021600-22032600	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr19:22021600-22033000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr19:22021600-22033600	Strong transcription	H9 Cell Line	embryonic stem cell
45	chr19:22021600-22033600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr19:22021800-22026200	Strong transcription	K562	blood
47	chr19:22021800-22026600	Strong transcription	HUVEC	blood vessel
48	chr19:22021800-22026800	Strong transcription	Primary B cells from peripheral blood	blood
49	chr19:22021800-22029000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr19:22021800-22029000	Strong transcription	Fetal Lung	lung

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