Variant report

Variant	rs11549380
Chromosome Location	chr19:19168732-19168733
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:19143822..19146431-chr19:19167618..19170858,3	K562	blood:
2	chr19:19167326..19169415-chr19:19230407..19232611,2	K562	blood:

Variant related genes	Relation type
ENSG00000064607	Chromatin interaction
ENSG00000105676	Chromatin interaction
ENSG00000064545	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10164302	0.95[EUR][1000 genomes]
rs10221450	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10221529	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28498174	0.97[EUR][1000 genomes]
rs4808171	0.97[EUR][1000 genomes]
rs4808178	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4808180	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4808181	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4808896	0.97[EUR][1000 genomes]
rs4808897	0.97[EUR][1000 genomes]
rs4808899	0.97[EUR][1000 genomes]
rs4808909	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4808910	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4808912	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4808914	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4808915	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4808921	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4808922	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55658345	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55678828	0.97[EUR][1000 genomes]
rs56141206	0.97[EUR][1000 genomes]
rs56144126	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56159042	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56227420	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60489867	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60696741	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72993458	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72993462	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73004898	0.97[EUR][1000 genomes]
rs73004899	0.97[EUR][1000 genomes]
rs73006907	0.97[EUR][1000 genomes]
rs73006928	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73008923	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73008928	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73008930	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73008934	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73008939	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73008945	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73008949	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73008958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73008960	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73010908	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][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	nsv833778	chr19:19012669-19201487	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
2	nsv1059305	chr19:19131310-19209999	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
3	nsv543927	chr19:19147376-19178024	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
4	nsv833779	chr19:19163492-19313091	Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19145000-19174000	Weak transcription	Small Intestine	intestine
2	chr19:19145400-19171800	Weak transcription	Right Atrium	heart
3	chr19:19145600-19172200	Weak transcription	Stomach Mucosa	stomach
4	chr19:19145600-19173800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr19:19145600-19173800	Weak transcription	Fetal Kidney	kidney
6	chr19:19151000-19173800	Weak transcription	Fetal Brain Male	brain
7	chr19:19151800-19173800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr19:19151800-19173800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr19:19152600-19173200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr19:19152800-19171400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr19:19153200-19171000	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr19:19153200-19171200	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr19:19153200-19171400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr19:19153200-19172200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr19:19153200-19173600	Strong transcription	Fetal Stomach	stomach
16	chr19:19153400-19169800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr19:19153400-19170400	Strong transcription	H9 Cell Line	embryonic stem cell
18	chr19:19153400-19170800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr19:19153400-19170800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr19:19153400-19170800	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr19:19153400-19171000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr19:19153400-19171200	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr19:19156600-19172800	Strong transcription	Dnd41	blood
24	chr19:19157400-19169400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr19:19157800-19169400	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr19:19159600-19170800	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr19:19159800-19170400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr19:19159800-19170800	Strong transcription	Primary T cells from cord blood	blood
29	chr19:19159800-19170800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr19:19159800-19171400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr19:19160000-19169400	Strong transcription	Skeletal Muscle Female	skeletal muscle
32	chr19:19160000-19169600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr19:19160200-19169000	Strong transcription	Primary B cells from peripheral blood	blood
34	chr19:19160200-19169400	Strong transcription	Adipose Nuclei	Adipose
35	chr19:19160200-19170600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr19:19160200-19171000	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr19:19160200-19172400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr19:19160400-19169400	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr19:19160400-19169400	Strong transcription	Left Ventricle	heart
40	chr19:19160400-19169400	Strong transcription	Stomach Smooth Muscle	stomach
41	chr19:19160400-19170800	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr19:19160400-19173000	Strong transcription	Thymus	Thymus
43	chr19:19160400-19173600	Strong transcription	Fetal Brain Female	brain
44	chr19:19161000-19170600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr19:19161000-19170800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr19:19161000-19170800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr19:19161000-19170800	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr19:19161200-19170000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr19:19161400-19169400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr19:19161600-19169400	Strong transcription	Brain Anterior Caudate	brain

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