Variant report

Variant	rs11668386
Chromosome Location	chr19:19531910-19531911
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	chr19:19530861..19532447-chr19:19536196..19539702,3	K562	blood:
2	chr19:19527087..19529612-chr19:19530409..19532277,2	K562	blood:

Variant related genes	Relation type
ENSG00000167491	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10408596	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10408875	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10415849	0.85[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10424702	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11668104	0.85[CEU][hapmap]
rs12052117	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17216525	1.00[YRI][hapmap]
rs17216588	1.00[YRI][hapmap]
rs28720066	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2965185	0.81[CHB][hapmap];0.81[ASN][1000 genomes]
rs3794991	0.86[JPT][hapmap]
rs56241616	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56273306	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56397647	0.89[ASN][1000 genomes]
rs57009615	0.87[ASN][1000 genomes]
rs59148799	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73002960	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8182472	0.85[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911305	chr19:19303802-19663850	Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19518600-19549800	Weak transcription	Fetal Brain Female	brain
2	chr19:19520800-19546800	Weak transcription	Hela-S3	cervix
3	chr19:19521000-19545400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr19:19521800-19536200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr19:19521800-19537600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr19:19522000-19545000	Weak transcription	Fetal Lung	lung
7	chr19:19522200-19534600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr19:19522200-19548600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr19:19522200-19563400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr19:19522600-19533200	Weak transcription	Aorta	Aorta
11	chr19:19522600-19533600	Weak transcription	Fetal Stomach	stomach
12	chr19:19522600-19537600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr19:19525400-19538200	Enhancers	Primary T cells fromperipheralblood	blood
14	chr19:19526400-19535000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr19:19526600-19533400	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr19:19526600-19533600	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr19:19527000-19533200	Enhancers	Primary B cells from peripheral blood	blood
18	chr19:19527000-19534400	Enhancers	Fetal Muscle Trunk	muscle
19	chr19:19527000-19535600	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr19:19527600-19533200	Enhancers	Fetal Muscle Leg	muscle
21	chr19:19527800-19532600	Enhancers	GM12878-XiMat	blood
22	chr19:19528000-19533400	Enhancers	Spleen	Spleen
23	chr19:19528600-19532800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr19:19528800-19539000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr19:19528800-19544200	Weak transcription	Fetal Heart	heart
26	chr19:19529000-19532400	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr19:19529000-19537000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr19:19529000-19539000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr19:19529200-19537400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr19:19530000-19539000	Weak transcription	Placenta	Placenta
31	chr19:19530000-19539000	Weak transcription	NHLF	lung
32	chr19:19530000-19545400	Weak transcription	Colonic Mucosa	Colon
33	chr19:19530200-19533800	Weak transcription	Osteobl	bone
34	chr19:19530200-19537000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr19:19530200-19537800	Weak transcription	Colon Smooth Muscle	Colon
36	chr19:19530200-19543400	Weak transcription	Stomach Smooth Muscle	stomach
37	chr19:19530200-19547400	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr19:19530400-19532000	Weak transcription	Primary T cells from cord blood	blood
39	chr19:19530400-19532000	Weak transcription	Thymus	Thymus
40	chr19:19530400-19532600	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr19:19530400-19536800	Strong transcription	Fetal Intestine Small	intestine
42	chr19:19530600-19532000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr19:19531000-19532400	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr19:19531200-19532800	Enhancers	Right Ventricle	heart
45	chr19:19531200-19533200	Enhancers	Left Ventricle	heart
46	chr19:19531200-19533400	Enhancers	Esophagus	oesophagus
47	chr19:19531200-19538000	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr19:19531400-19532000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr19:19531400-19532000	Enhancers	Primary hematopoietic stem cells	blood
50	chr19:19531400-19532000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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