Variant report

Variant	rs234305
Chromosome Location	chr19:40515958-40515959
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:40514284..40516940-chr19:40519055..40521737,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs234300	1.00[AMR][1000 genomes]
rs234311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs234320	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs234350	1.00[AMR][1000 genomes]
rs234358	1.00[AMR][1000 genomes]
rs234372	1.00[AMR][1000 genomes]
rs28746189	1.00[AMR][1000 genomes]
rs3000955	1.00[AMR][1000 genomes]
rs337781	1.00[AMR][1000 genomes]
rs337797	1.00[AMR][1000 genomes]
rs405461	1.00[AMR][1000 genomes]
rs421421	1.00[AMR][1000 genomes]
rs57469004	1.00[AMR][1000 genomes]
rs61407485	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758498	chr19:40227904-40521130	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv2758760	chr19:40227904-40521130	Genic enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv428022	chr19:40227904-40521130	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	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

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40503600-40519200	Weak transcription	Small Intestine	intestine
2	chr19:40503800-40516000	Weak transcription	Fetal Intestine Small	intestine
3	chr19:40504000-40517600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr19:40504000-40519600	Weak transcription	Fetal Brain Male	brain
5	chr19:40504000-40519600	Weak transcription	Hela-S3	cervix
6	chr19:40504000-40533800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr19:40511400-40517400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr19:40511400-40518000	Strong transcription	Brain Hippocampus Middle	brain
9	chr19:40511600-40522000	ZNF genes & repeats	A549	lung
10	chr19:40511800-40516200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr19:40511800-40516400	Strong transcription	Primary T helper cells PMA-I stimulated	--
12	chr19:40511800-40518000	Strong transcription	Colon Smooth Muscle	Colon
13	chr19:40512000-40516000	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr19:40512000-40517600	Strong transcription	Skeletal Muscle Female	skeletal muscle
15	chr19:40512000-40517800	Strong transcription	Primary B cells from cord blood	blood
16	chr19:40512000-40519200	Strong transcription	Brain Inferior Temporal Lobe	brain
17	chr19:40512000-40527200	ZNF genes & repeats	Liver	Liver
18	chr19:40512200-40516400	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr19:40512200-40516600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr19:40512200-40516600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr19:40512200-40517600	Strong transcription	Duodenum Smooth Muscle	Duodenum
22	chr19:40512200-40517800	Strong transcription	Primary B cells from peripheral blood	blood
23	chr19:40512200-40518600	Strong transcription	Brain Anterior Caudate	brain
24	chr19:40512400-40516200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr19:40512400-40516600	Strong transcription	Fetal Lung	lung
26	chr19:40512600-40516000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr19:40512600-40517400	Weak transcription	NH-A	brain
28	chr19:40512600-40518000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr19:40512600-40519600	Weak transcription	Colonic Mucosa	Colon
30	chr19:40512800-40516000	Strong transcription	Primary T killer memory cells from peripheral blood	blood
31	chr19:40512800-40517600	Weak transcription	HUVEC	blood vessel
32	chr19:40512800-40518200	Strong transcription	Fetal Thymus	thymus
33	chr19:40512800-40518200	Strong transcription	Left Ventricle	heart
34	chr19:40513000-40516000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr19:40513000-40516000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr19:40513000-40516200	Strong transcription	Placenta	Placenta
37	chr19:40513000-40516600	Strong transcription	Stomach Smooth Muscle	stomach
38	chr19:40513000-40518400	Strong transcription	Skeletal Muscle Male	skeletal muscle
39	chr19:40513200-40516600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr19:40513200-40516600	ZNF genes & repeats	GM12878-XiMat	blood
41	chr19:40513200-40517600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr19:40513400-40516000	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr19:40513400-40516000	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr19:40513400-40516000	Strong transcription	Osteobl	bone
45	chr19:40513400-40516200	Strong transcription	Duodenum Mucosa	Duodenum
46	chr19:40513400-40518800	Strong transcription	Brain Cingulate Gyrus	brain
47	chr19:40513400-40521800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr19:40513600-40522200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr19:40513800-40516400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr19:40513800-40516600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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