Variant report

Variant	rs61657018
Chromosome Location	chr19:38545505-38545506
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr19:38545346-38546083	NB4	blood:	n/a	n/a
2	MAX	chr19:38545306-38546059	NB4	blood:	n/a	n/a
3	CTCF	chr19:38545480-38545630	GM12871	blood:	n/a	chr19:38545565-38545578

Variant related genes	Relation type
ENSG00000221258	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1546800	0.92[EUR][1000 genomes]
rs16979230	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57844882	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62121389	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62121390	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62121391	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62121392	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62121394	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv1060359	chr19:38512719-38552438	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1062518	chr19:38540454-38564913	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38521800-38548600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr19:38522000-38553600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr19:38526800-38545600	Weak transcription	Stomach Mucosa	stomach
4	chr19:38527800-38548800	Weak transcription	Right Atrium	heart
5	chr19:38527800-38551800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr19:38528200-38573200	Weak transcription	Left Ventricle	heart
7	chr19:38529000-38548600	Weak transcription	Pancreas	Pancrea
8	chr19:38531400-38550800	Weak transcription	NHLF	lung
9	chr19:38537800-38548800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr19:38537800-38548800	Weak transcription	Esophagus	oesophagus
11	chr19:38538000-38548800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr19:38538400-38552800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr19:38539000-38572000	Weak transcription	Right Ventricle	heart
14	chr19:38539200-38548800	Weak transcription	Colonic Mucosa	Colon
15	chr19:38539200-38548800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr19:38539200-38591200	Weak transcription	Small Intestine	intestine
17	chr19:38540200-38548600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr19:38540400-38551600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr19:38540600-38545600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr19:38540600-38548800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr19:38540600-38549000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr19:38540800-38545600	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr19:38540800-38548800	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr19:38540800-38549800	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr19:38541000-38548600	Weak transcription	Primary T cells from cord blood	blood
26	chr19:38541200-38546200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr19:38541400-38548600	Weak transcription	GM12878-XiMat	blood
28	chr19:38543200-38546600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr19:38543400-38545600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr19:38543400-38553600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr19:38543800-38549000	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr19:38543800-38563200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr19:38544000-38548600	Weak transcription	Brain Cingulate Gyrus	brain
34	chr19:38544200-38546200	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr19:38544200-38548200	Strong transcription	Fetal Intestine Small	intestine
36	chr19:38544600-38547200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr19:38545000-38545600	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr19:38545000-38545800	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr19:38545000-38546400	Genic enhancers	Primary B cells from cord blood	blood
40	chr19:38545000-38546600	Enhancers	Brain Substantia Nigra	brain
41	chr19:38545000-38546800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr19:38545000-38547000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr19:38545000-38547000	Enhancers	Fetal Muscle Trunk	muscle
44	chr19:38545000-38547000	Enhancers	Fetal Thymus	thymus
45	chr19:38545000-38547200	Genic enhancers	Fetal Muscle Leg	muscle
46	chr19:38545000-38547400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr19:38545000-38547400	Weak transcription	Aorta	Aorta
48	chr19:38545200-38545600	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr19:38545200-38545800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr19:38545200-38545800	Enhancers	Skeletal Muscle Female	skeletal muscle

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