Variant report

Variant	rs11083442
Chromosome Location	chr19:38427528-38427529
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:38396824..38398829-chr19:38427494..38430432,2	MCF-7	breast:
2	chr19:38424099..38425742-chr19:38427157..38428812,2	K562	blood:
3	chr19:38427297..38430730-chr19:38431010..38433796,3	K562	blood:
4	chr19:38395808..38398765-chr19:38427485..38430448,3	MCF-7	breast:
5	chr19:38426351..38429541-chr19:38429679..38432396,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000105738	Chromatin interaction
ENSG00000171804	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11665869	0.84[AMR][1000 genomes]
rs11666497	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11667246	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11668748	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11672257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11672673	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11672724	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1807157	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2382624	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56672492	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59616348	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7254809	0.81[EUR][1000 genomes]
rs73025630	0.84[AMR][1000 genomes]
rs73027418	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73029180	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73031215	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73034929	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73034946	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv1064401	chr19:38387797-38427984	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1061106	chr19:38400149-38448723	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv544001	chr19:38400149-38448723	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv1820125	chr19:38424904-38427984	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38398800-38433800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr19:38399600-38441200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr19:38423000-38438200	Weak transcription	Brain Angular Gyrus	brain
4	chr19:38423200-38443000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr19:38423400-38427600	Enhancers	Liver	Liver
6	chr19:38423400-38433800	Weak transcription	Thymus	Thymus
7	chr19:38423600-38444400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr19:38424400-38428000	Genic enhancers	Primary B cells from peripheral blood	blood
9	chr19:38424600-38429600	ZNF genes & repeats	GM12878-XiMat	blood
10	chr19:38424600-38438800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr19:38424600-38439200	Weak transcription	Spleen	Spleen
12	chr19:38424800-38428000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr19:38424800-38444000	Weak transcription	NHDF-Ad	bronchial
14	chr19:38425000-38429000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr19:38425000-38431200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr19:38425000-38431600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr19:38425000-38432200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr19:38425000-38438400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr19:38425000-38441000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr19:38425000-38454000	Weak transcription	HSMMtube	muscle
21	chr19:38425200-38436000	Enhancers	Stomach Mucosa	stomach
22	chr19:38425400-38427800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
23	chr19:38425400-38430200	ZNF genes & repeats	A549	lung
24	chr19:38425800-38429600	Enhancers	Fetal Intestine Large	intestine
25	chr19:38425800-38430600	Weak transcription	Small Intestine	intestine
26	chr19:38426000-38427600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
27	chr19:38426000-38427600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
28	chr19:38426000-38427800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
29	chr19:38426200-38427600	Enhancers	Fetal Heart	heart
30	chr19:38426200-38428600	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr19:38426400-38427600	Strong transcription	Primary T cells from cord blood	blood
32	chr19:38426400-38427800	Enhancers	Colonic Mucosa	Colon
33	chr19:38426400-38432200	Weak transcription	NH-A	brain
34	chr19:38426400-38435600	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr19:38426400-38444000	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr19:38426600-38427600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr19:38426600-38427600	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr19:38426600-38427600	Enhancers	HepG2	liver
39	chr19:38426600-38428000	Genic enhancers	Primary B cells from cord blood	blood
40	chr19:38426600-38429000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr19:38426600-38429600	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr19:38426600-38430200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr19:38426600-38435000	Weak transcription	HUVEC	blood vessel
44	chr19:38426600-38438200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr19:38426600-38442600	Weak transcription	HMEC	breast
46	chr19:38426600-38448200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr19:38426600-38450800	Weak transcription	Ovary	ovary
48	chr19:38426800-38428600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr19:38426800-38429600	Enhancers	Rectal Mucosa Donor 29	rectum
50	chr19:38426800-38431800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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