Variant report

Variant	rs57554707
Chromosome Location	chr19:40758796-40758797
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	chr19:40749209..40752062-chr19:40757715..40759395,2	K562	blood:
2	chr19:40757637..40759923-chr19:40784996..40787780,2	K562	blood:

Variant related genes	Relation type
ENSG00000105221	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10419218	1.00[EUR][1000 genomes]
rs10420514	1.00[EUR][1000 genomes]
rs10420687	1.00[EUR][1000 genomes]
rs10421243	1.00[EUR][1000 genomes]
rs10423298	1.00[EUR][1000 genomes]
rs10423800	1.00[EUR][1000 genomes]
rs11883159	1.00[EUR][1000 genomes]
rs13382054	1.00[EUR][1000 genomes]
rs234297	1.00[EUR][1000 genomes]
rs268682	1.00[EUR][1000 genomes]
rs28832070	1.00[EUR][1000 genomes]
rs337795	1.00[EUR][1000 genomes]
rs4150980	1.00[EUR][1000 genomes]
rs4150982	1.00[EUR][1000 genomes]
rs57342065	1.00[EUR][1000 genomes]
rs58348431	1.00[EUR][1000 genomes]
rs61424085	1.00[EUR][1000 genomes]
rs8111518	1.00[EUR][1000 genomes]
rs8111741	1.00[EUR][1000 genomes]
rs8112927	1.00[EUR][1000 genomes]
rs922216	1.00[EUR][1000 genomes]
rs9630860	1.00[EUR][1000 genomes]
rs9630868	1.00[EUR][1000 genomes]
rs9783944	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	esv2758499	chr19:40612420-40839520	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv2758761	chr19:40612420-40839520	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv911699	chr19:40691632-40816530	Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	esv1833489	chr19:40722123-40923908	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv1064502	chr19:40758049-40781360	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40732800-40759000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr19:40738000-40763800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr19:40741600-40761000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr19:40743200-40760800	Weak transcription	HMEC	breast
5	chr19:40745800-40760800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr19:40746400-40760800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr19:40747200-40759400	Weak transcription	Hela-S3	cervix
8	chr19:40747200-40760800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr19:40747400-40759200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr19:40748400-40761000	Weak transcription	Small Intestine	intestine
11	chr19:40748600-40759400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr19:40748800-40760800	Weak transcription	NH-A	brain
13	chr19:40749000-40759000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr19:40749400-40759200	Weak transcription	HUVEC	blood vessel
15	chr19:40750000-40763800	Strong transcription	Thymus	Thymus
16	chr19:40750000-40764000	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr19:40751000-40761800	Weak transcription	Fetal Kidney	kidney
18	chr19:40751200-40761600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr19:40751200-40771200	Weak transcription	Fetal Heart	heart
20	chr19:40751800-40763600	Strong transcription	Fetal Stomach	stomach
21	chr19:40752000-40759000	Weak transcription	NHDF-Ad	bronchial
22	chr19:40752600-40763400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr19:40752800-40763400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr19:40753000-40772000	Weak transcription	Fetal Brain Male	brain
25	chr19:40753200-40762800	Strong transcription	Duodenum Smooth Muscle	Duodenum
26	chr19:40753200-40763000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr19:40753200-40763600	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr19:40753200-40763800	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr19:40753200-40764600	Strong transcription	Primary T cells from cord blood	blood
30	chr19:40753600-40763400	Strong transcription	Fetal Thymus	thymus
31	chr19:40753600-40763800	Strong transcription	Dnd41	blood
32	chr19:40753800-40763400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr19:40753800-40763800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr19:40753800-40764400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr19:40754000-40763000	Strong transcription	Brain Germinal Matrix	brain
36	chr19:40754200-40759800	Strong transcription	Fetal Muscle Leg	muscle
37	chr19:40754200-40760800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr19:40754600-40759000	Weak transcription	Brain Anterior Caudate	brain
39	chr19:40754600-40759000	Weak transcription	NHEK	skin
40	chr19:40754600-40759600	Weak transcription	Colon Smooth Muscle	Colon
41	chr19:40755000-40763200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr19:40755000-40763800	Strong transcription	Placenta	Placenta
43	chr19:40755200-40763600	Strong transcription	GM12878-XiMat	blood
44	chr19:40755400-40763600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr19:40755600-40759200	Strong transcription	Esophagus	oesophagus
46	chr19:40755600-40760800	Weak transcription	Colonic Mucosa	Colon
47	chr19:40755600-40762400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr19:40755600-40763000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr19:40755600-40764600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr19:40755800-40763000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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