Variant report

Variant	rs7254333
Chromosome Location	chr19:38513309-38513310
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12386130	1.00[EUR][1000 genomes]
rs28470392	1.00[EUR][1000 genomes]
rs45589333	1.00[EUR][1000 genomes]
rs59924572	1.00[EUR][1000 genomes]
rs61729146	1.00[EUR][1000 genomes]
rs7249463	1.00[EUR][1000 genomes]
rs8108521	0.84[AFR][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	nsv911656	chr19:38505037-38539988	Genic enhancers Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	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

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38474800-38513600	Weak transcription	Gastric	stomach
2	chr19:38495400-38522800	Weak transcription	Aorta	Aorta
3	chr19:38495400-38526400	Weak transcription	Ovary	ovary
4	chr19:38495600-38513400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr19:38495600-38514200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr19:38495800-38513400	Weak transcription	Stomach Mucosa	stomach
7	chr19:38496200-38513600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr19:38496200-38513600	Weak transcription	Left Ventricle	heart
9	chr19:38496200-38513600	Weak transcription	Right Ventricle	heart
10	chr19:38496200-38513600	Weak transcription	NHEK	skin
11	chr19:38496200-38521400	Weak transcription	Stomach Smooth Muscle	stomach
12	chr19:38496400-38521400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr19:38496600-38513600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr19:38496600-38515600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr19:38496800-38520600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr19:38497000-38513400	Weak transcription	NHLF	lung
17	chr19:38497400-38515800	Weak transcription	Fetal Brain Male	brain
18	chr19:38497400-38520600	Weak transcription	Primary T cells from cord blood	blood
19	chr19:38497600-38513600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr19:38498200-38514800	Weak transcription	HepG2	liver
21	chr19:38500600-38524200	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr19:38501000-38521400	Weak transcription	Thymus	Thymus
23	chr19:38502400-38523000	Weak transcription	Liver	Liver
24	chr19:38503600-38513600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr19:38503800-38513400	Weak transcription	Esophagus	oesophagus
26	chr19:38503800-38513400	Weak transcription	Fetal Intestine Large	intestine
27	chr19:38503800-38523800	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr19:38504000-38515200	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr19:38504000-38515200	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr19:38504800-38513600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr19:38504800-38513600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr19:38505000-38513600	Weak transcription	Brain Cingulate Gyrus	brain
33	chr19:38505200-38513600	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr19:38505200-38513600	Weak transcription	Brain Substantia Nigra	brain
35	chr19:38505200-38518600	Weak transcription	Fetal Stomach	stomach
36	chr19:38506200-38515600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr19:38506600-38526200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr19:38506800-38513600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr19:38506800-38513800	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr19:38507400-38517800	Weak transcription	GM12878-XiMat	blood
41	chr19:38508000-38517000	Enhancers	Primary hematopoietic stem cells	blood
42	chr19:38508600-38537000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr19:38508800-38513600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr19:38510000-38519600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr19:38510000-38524200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr19:38510200-38513400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr19:38510200-38513600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr19:38510200-38513600	Weak transcription	Placenta	Placenta
49	chr19:38510200-38515000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr19:38510600-38513600	Weak transcription	Lung	lung

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