Variant report

Variant	rs337795
Chromosome Location	chr19:40581677-40581678
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	chr19:40577073..40578662-chr19:40580637..40583463,2	K562	blood:
2	chr19:40473843..40476809-chr19:40580140..40582711,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10403646	0.84[AFR][1000 genomes]
rs10410695	1.00[EUR][1000 genomes]
rs10418448	1.00[EUR][1000 genomes]
rs10419218	1.00[EUR][1000 genomes]
rs10420514	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10420687	1.00[EUR][1000 genomes]
rs10421243	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10423298	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10423800	1.00[EUR][1000 genomes]
rs10427117	1.00[EUR][1000 genomes]
rs11882318	0.80[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs11883159	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13382054	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs170898	1.00[EUR][1000 genomes]
rs234297	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs234307	1.00[EUR][1000 genomes]
rs234312	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs234316	1.00[EUR][1000 genomes]
rs234319	1.00[EUR][1000 genomes]
rs234321	1.00[EUR][1000 genomes]
rs234322	1.00[EUR][1000 genomes]
rs234327	1.00[EUR][1000 genomes]
rs234339	1.00[EUR][1000 genomes]
rs234342	1.00[EUR][1000 genomes]
rs2542302	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28661993	1.00[EUR][1000 genomes]
rs28776318	1.00[EUR][1000 genomes]
rs28832070	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57342065	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57554707	1.00[EUR][1000 genomes]
rs58348431	1.00[EUR][1000 genomes]
rs61424085	1.00[EUR][1000 genomes]
rs7245930	1.00[EUR][1000 genomes]
rs7250945	1.00[EUR][1000 genomes]
rs7257627	1.00[EUR][1000 genomes]
rs7258111	1.00[EUR][1000 genomes]
rs73930675	1.00[EUR][1000 genomes]
rs73930678	1.00[EUR][1000 genomes]
rs73930679	1.00[EUR][1000 genomes]
rs8111518	1.00[EUR][1000 genomes]
rs8111741	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9630860	1.00[EUR][1000 genomes]
rs9630868	1.00[EUR][1000 genomes]
rs9783944	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917321	chr19:40403192-40694875	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent Enhancer 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	43 gene(s)	inside rSNPs	diseases
2	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 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	chr19:40574400-40582400	Weak transcription	Fetal Stomach	stomach
2	chr19:40578600-40586200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
3	chr19:40578600-40586600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr19:40578600-40586600	ZNF genes & repeats	Liver	Liver
5	chr19:40578600-40586600	ZNF genes & repeats	A549	lung
6	chr19:40578600-40586800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr19:40578600-40590400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr19:40578800-40582000	Strong transcription	Dnd41	blood
9	chr19:40578800-40582400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr19:40578800-40582600	Strong transcription	Colonic Mucosa	Colon
11	chr19:40578800-40583600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
12	chr19:40578800-40586600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
13	chr19:40578800-40587200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr19:40579000-40583200	ZNF genes & repeats	NH-A	brain
15	chr19:40579000-40583400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
16	chr19:40579000-40583600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
17	chr19:40579000-40583600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
18	chr19:40579000-40584600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
19	chr19:40579000-40586600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
20	chr19:40579000-40587000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr19:40579000-40587000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
22	chr19:40579200-40581800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr19:40579200-40583400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
24	chr19:40579200-40583600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr19:40579200-40583600	Strong transcription	Skeletal Muscle Male	skeletal muscle
26	chr19:40579200-40583800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
27	chr19:40579200-40583800	ZNF genes & repeats	Fetal Lung	lung
28	chr19:40579200-40583800	ZNF genes & repeats	HSMM	muscle
29	chr19:40579200-40584600	ZNF genes & repeats	Fetal Muscle Leg	muscle
30	chr19:40579200-40585000	ZNF genes & repeats	Primary B cells from cord blood	blood
31	chr19:40579200-40585600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
32	chr19:40579200-40585600	ZNF genes & repeats	Adipose Nuclei	Adipose
33	chr19:40579200-40585800	ZNF genes & repeats	Primary T cells from cord blood	blood
34	chr19:40579200-40586600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
35	chr19:40579200-40586600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
36	chr19:40579200-40586800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr19:40579200-40586800	ZNF genes & repeats	GM12878-XiMat	blood
38	chr19:40579200-40589600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr19:40579400-40582200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
40	chr19:40579400-40583200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
41	chr19:40579400-40583200	ZNF genes & repeats	HMEC	breast
42	chr19:40579400-40583400	ZNF genes & repeats	Osteobl	bone
43	chr19:40579400-40583600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr19:40579400-40585000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
45	chr19:40579400-40585400	Strong transcription	HepG2	liver
46	chr19:40579400-40590400	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr19:40579600-40582000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr19:40579600-40583400	Strong transcription	Brain Substantia Nigra	brain
49	chr19:40579600-40583600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr19:40579600-40583600	Strong transcription	Brain Hippocampus Middle	brain

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