Variant report

Variant	rs2060244
Chromosome Location	chr19:38774622-38774623
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:38759881..38761740-chr19:38772402..38774668,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11556992	0.83[AFR][1000 genomes]
rs12609354	0.90[AMR][1000 genomes]
rs12610606	0.97[ASN][1000 genomes]
rs2384783	0.91[AFR][1000 genomes]
rs34276782	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34508901	0.98[ASN][1000 genomes]
rs34992016	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35029752	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35366094	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs3745949	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6508781	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6508782	0.90[AMR][1000 genomes]
rs71354994	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7245454	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7253823	0.99[ASN][1000 genomes]
rs7254637	0.97[ASN][1000 genomes]
rs7259936	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73037326	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063471	chr19:38734744-39148392	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
2	nsv833822	chr19:38760748-38945105	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38756800-38774800	Weak transcription	Primary B cells from peripheral blood	blood
2	chr19:38756800-38775000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr19:38756800-38778600	Weak transcription	Thymus	Thymus
4	chr19:38756800-38779600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr19:38759600-38783200	Weak transcription	Fetal Brain Male	brain
6	chr19:38765800-38794800	Weak transcription	Small Intestine	intestine
7	chr19:38769200-38774800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr19:38769200-38778400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr19:38769200-38791200	Weak transcription	Fetal Kidney	kidney
10	chr19:38769400-38776000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr19:38769400-38779200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr19:38769400-38795200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr19:38769600-38775200	Weak transcription	NHDF-Ad	bronchial
14	chr19:38769600-38778400	Weak transcription	Brain Substantia Nigra	brain
15	chr19:38769800-38775600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr19:38769800-38775800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr19:38769800-38778000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr19:38769800-38778200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr19:38769800-38778200	Weak transcription	Brain Hippocampus Middle	brain
20	chr19:38769800-38779000	Weak transcription	Brain Anterior Caudate	brain
21	chr19:38769800-38779000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr19:38769800-38779000	Weak transcription	HSMM	muscle
23	chr19:38769800-38779200	Weak transcription	Brain Angular Gyrus	brain
24	chr19:38769800-38780400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr19:38770000-38780600	Weak transcription	Brain Germinal Matrix	brain
26	chr19:38770600-38777000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr19:38770800-38775000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr19:38770800-38785800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr19:38771200-38776000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr19:38771200-38779000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr19:38771400-38774800	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr19:38771400-38774800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr19:38771400-38775000	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr19:38771400-38775400	Weak transcription	Adipose Nuclei	Adipose
35	chr19:38771400-38776000	Weak transcription	NHLF	lung
36	chr19:38771400-38778200	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr19:38771400-38778200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr19:38771400-38778600	Weak transcription	Fetal Lung	lung
39	chr19:38771400-38805800	Weak transcription	Right Atrium	heart
40	chr19:38771800-38774800	Weak transcription	Fetal Stomach	stomach
41	chr19:38771800-38775000	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr19:38771800-38775000	Weak transcription	Esophagus	oesophagus
43	chr19:38771800-38775200	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr19:38771800-38775400	Weak transcription	Liver	Liver
45	chr19:38772400-38775000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr19:38772600-38776600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr19:38772600-38782800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr19:38772800-38780800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr19:38772800-38780800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr19:38772800-38784200	Strong transcription	HUES6 Cell Line	embryonic stem cell

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