Variant report

Variant	rs11083554
Chromosome Location	chr19:40866722-40866723
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:40861491..40863430-chr19:40866543..40869308,2	K562	blood:
2	chr19:40865553..40867508-chr19:40869694..40871667,2	K562	blood:
3	chr19:40858935..40867508-chr19:40870167..40875772,11	K562	blood:

Variant related genes	Relation type
ENSG00000105223	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12151335	0.89[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs12460555	0.85[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs12460615	0.86[ASN][1000 genomes]
rs16974196	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs1962639	0.84[ASN][1000 genomes]
rs1991460	0.82[ASN][1000 genomes]
rs2304186	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs2368575	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs33933140	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs34894858	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs3745195	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs4490097	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs4502340	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs4802076	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4803327	0.83[ASN][1000 genomes]
rs4803328	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55710016	0.82[ASN][1000 genomes]
rs59263025	0.83[ASN][1000 genomes]
rs7259273	0.86[ASN][1000 genomes]
rs7259541	0.81[JPT][hapmap]
rs73046335	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7507651	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs7508513	0.85[ASN][1000 genomes]
rs890773	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs892117	0.81[CHB][hapmap];0.85[JPT][hapmap]

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	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
3	nsv833831	chr19:40796740-40960865	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv911706	chr19:40842529-40969203	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
5	nsv911707	chr19:40855255-40948202	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
6	nsv911708	chr19:40855255-40982375	Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40855600-40868800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr19:40855600-40868800	Weak transcription	HSMM	muscle
3	chr19:40855600-40869000	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr19:40855600-40869000	Weak transcription	Osteobl	bone
5	chr19:40855600-40870600	Weak transcription	Gastric	stomach
6	chr19:40855600-40870800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr19:40855600-40870800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr19:40855600-40870800	Weak transcription	Hela-S3	cervix
9	chr19:40855600-40871000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr19:40855600-40871000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr19:40855600-40871000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr19:40855600-40871000	Weak transcription	Fetal Brain Male	brain
13	chr19:40855600-40871000	Weak transcription	Fetal Intestine Large	intestine
14	chr19:40855600-40871000	Weak transcription	Right Atrium	heart
15	chr19:40855600-40871000	Weak transcription	NHDF-Ad	bronchial
16	chr19:40855600-40871000	Weak transcription	NHEK	skin
17	chr19:40855600-40871200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr19:40855600-40871200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr19:40855600-40871200	Weak transcription	Colon Smooth Muscle	Colon
20	chr19:40855600-40871200	Weak transcription	Small Intestine	intestine
21	chr19:40855600-40871400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr19:40855600-40871400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr19:40855600-40871400	Weak transcription	Left Ventricle	heart
24	chr19:40855600-40871400	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr19:40855600-40871400	Weak transcription	Rectal Smooth Muscle	rectum
26	chr19:40855600-40871400	Weak transcription	Right Ventricle	heart
27	chr19:40855600-40871400	Weak transcription	NHLF	lung
28	chr19:40855600-40872400	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr19:40855600-40872400	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr19:40855600-40872600	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr19:40855600-40873400	Weak transcription	Aorta	Aorta
32	chr19:40855600-40875800	Weak transcription	HSMMtube	muscle
33	chr19:40855800-40868800	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr19:40855800-40871400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr19:40856600-40869000	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr19:40856600-40873600	Weak transcription	Psoas Muscle	Psoas
37	chr19:40857800-40871200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr19:40861600-40871400	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr19:40861800-40868400	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr19:40862000-40868200	Weak transcription	Fetal Thymus	thymus
41	chr19:40862600-40871000	Weak transcription	Ovary	ovary
42	chr19:40863000-40866800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr19:40863400-40868800	Strong transcription	Fetal Stomach	stomach
44	chr19:40863400-40871000	Weak transcription	Pancreas	Pancrea
45	chr19:40863600-40871400	Weak transcription	Brain Anterior Caudate	brain
46	chr19:40863800-40871400	Weak transcription	Fetal Lung	lung
47	chr19:40864000-40869600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr19:40864000-40871000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr19:40864000-40871000	Weak transcription	Brain Substantia Nigra	brain
50	chr19:40864000-40871200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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