Variant report

Variant	rs2136890
Chromosome Location	chr19:22033122-22033123
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11085493	0.80[ASN][1000 genomes]
rs12460775	0.95[ASN][1000 genomes]
rs12460998	0.93[ASN][1000 genomes]
rs12462709	0.95[ASN][1000 genomes]
rs12463064	0.91[ASN][1000 genomes]
rs1510964	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17701366	0.95[ASN][1000 genomes]
rs2435003	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2435006	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2435041	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2435044	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2457773	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2457785	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2457802	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3764576	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: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:121 , 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	chr19:22019600-22033400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr19:22019600-22033600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr19:22019800-22033600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr19:22020400-22033400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr19:22020400-22033400	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr19:22020600-22033400	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr19:22020600-22033400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr19:22021600-22033600	Strong transcription	H9 Cell Line	embryonic stem cell
13	chr19:22021600-22033600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr19:22021800-22033400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr19:22024400-22033600	Weak transcription	Colon Smooth Muscle	Colon
16	chr19:22024400-22033600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr19:22026000-22033800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr19:22026200-22033400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr19:22026200-22033400	Weak transcription	Brain Hippocampus Middle	brain
20	chr19:22026200-22033400	Weak transcription	K562	blood
21	chr19:22026200-22034400	Weak transcription	HSMMtube	muscle
22	chr19:22026400-22033400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr19:22026400-22033400	Weak transcription	Right Ventricle	heart
24	chr19:22026400-22033400	Weak transcription	HSMM	muscle
25	chr19:22026800-22033600	Weak transcription	Osteobl	bone
26	chr19:22027000-22033600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr19:22027000-22034400	Weak transcription	Esophagus	oesophagus
28	chr19:22027200-22033800	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr19:22027800-22034000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr19:22028200-22033400	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr19:22028200-22033600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr19:22028200-22033800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr19:22028400-22033400	Weak transcription	Adipose Nuclei	Adipose
34	chr19:22028400-22033400	Weak transcription	Brain Angular Gyrus	brain
35	chr19:22028400-22033400	Weak transcription	Brain Anterior Caudate	brain
36	chr19:22028400-22033400	Weak transcription	Fetal Thymus	thymus
37	chr19:22028400-22033400	Weak transcription	Left Ventricle	heart
38	chr19:22028400-22033600	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr19:22028400-22033600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr19:22028400-22033600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr19:22028400-22033600	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr19:22028400-22033600	Weak transcription	NHLF	lung
43	chr19:22028600-22033600	Weak transcription	Duodenum Mucosa	Duodenum
44	chr19:22029000-22033600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr19:22029000-22034200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr19:22029200-22033400	Weak transcription	Brain Substantia Nigra	brain
47	chr19:22029200-22033600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr19:22029400-22033600	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr19:22029600-22033400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr19:22029600-22033400	Strong transcription	Fetal Intestine Large	intestine

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