Variant report

Variant	rs2457795
Chromosome Location	chr19:22033498-22033499
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1510964	1.00[YRI][hapmap]
rs1543048	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16998303	1.00[CHB][hapmap]
rs16998391	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16998411	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16998413	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2203944	1.00[CHB][hapmap]
rs2244041	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2359707	1.00[ASN][1000 genomes]
rs2435001	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2435002	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2435004	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2435005	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2435007	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2435009	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2435040	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2435041	1.00[YRI][hapmap]
rs2435044	1.00[YRI][hapmap]
rs2435045	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2435046	1.00[CEU][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2457772	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2457783	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2457785	0.88[YRI][hapmap]
rs2457786	0.83[EUR][1000 genomes]
rs2457787	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2457789	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2457790	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2457791	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2457793	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2457799	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4467196	1.00[CHB][hapmap]
rs6511296	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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
15	nsv911431	chr19:22026279-22106951	Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	nsv911432	chr19:22026279-22110219	Weak transcription Enhancers Active TSS Flanking Active TSS 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	3 gene(s)	inside rSNPs	diseases
17	esv3584735	chr19:22031685-22108201	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers 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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:22019000-22034200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:22019200-22034000	Weak transcription	Colonic Mucosa	Colon
3	chr19:22019200-22034400	Weak transcription	Stomach Mucosa	stomach
4	chr19:22019400-22033600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr19:22019600-22033600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr19:22019800-22033600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr19:22021600-22033600	Strong transcription	H9 Cell Line	embryonic stem cell
8	chr19:22021600-22033600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr19:22024400-22033600	Weak transcription	Colon Smooth Muscle	Colon
10	chr19:22024400-22033600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr19:22026000-22033800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr19:22026200-22034400	Weak transcription	HSMMtube	muscle
13	chr19:22026800-22033600	Weak transcription	Osteobl	bone
14	chr19:22027000-22033600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr19:22027000-22034400	Weak transcription	Esophagus	oesophagus
16	chr19:22027200-22033800	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr19:22027800-22034000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr19:22028200-22033600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr19:22028200-22033800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr19:22028400-22033600	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr19:22028400-22033600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr19:22028400-22033600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr19:22028400-22033600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr19:22028400-22033600	Weak transcription	NHLF	lung
25	chr19:22028600-22033600	Weak transcription	Duodenum Mucosa	Duodenum
26	chr19:22029000-22033600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr19:22029000-22034200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr19:22029200-22033600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr19:22029400-22033600	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr19:22029800-22034000	Weak transcription	Aorta	Aorta
31	chr19:22030200-22033600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr19:22030600-22033600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr19:22031000-22033600	Strong transcription	Primary hematopoietic stem cells	blood
34	chr19:22031400-22033600	Enhancers	Fetal Heart	heart
35	chr19:22031600-22033600	Weak transcription	Gastric	stomach
36	chr19:22031800-22033600	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr19:22031800-22033800	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr19:22031800-22034400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr19:22032000-22033600	Weak transcription	Thymus	Thymus
40	chr19:22032000-22033600	Weak transcription	NHDF-Ad	bronchial
41	chr19:22032000-22034200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr19:22032200-22033600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr19:22032200-22033600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr19:22032400-22033600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr19:22032400-22033800	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
46	chr19:22032400-22034000	ZNF genes & repeats	Liver	Liver
47	chr19:22032600-22033600	Transcr. at gene 5' and 3'	iPS-15b Cell Line	embryonic stem cell
48	chr19:22032600-22033600	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr19:22032600-22033600	Genic enhancers	Fetal Muscle Leg	muscle
50	chr19:22032600-22033800	Transcr. at gene 5' and 3'	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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