Variant report

Variant	rs332847
Chromosome Location	chr19:38642806-38642807
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	chr19:38642798..38644805-chr19:38646694..38649003,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11671853	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs855622	0.86[EUR][1000 genomes]
rs861304	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	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	nsv833821	chr19:38629937-38756792	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs332847	PHB	trans	cerebellum	SCAN
rs332847	DMWD	cis	cerebellum	SCAN
rs332847	IRGQ	cis	cerebellum	SCAN
rs332847	ZNF780A	cis	cerebellum	SCAN
rs332847	PSG4	cis	cerebellum	SCAN

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38600600-38652800	Weak transcription	NHDF-Ad	bronchial
2	chr19:38610800-38643600	Weak transcription	HepG2	liver
3	chr19:38611000-38652800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr19:38611600-38653000	Weak transcription	HUVEC	blood vessel
5	chr19:38611800-38653000	Weak transcription	Fetal Kidney	kidney
6	chr19:38613800-38643200	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr19:38613800-38652200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr19:38613800-38652600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr19:38616000-38652600	Strong transcription	Primary B cells from peripheral blood	blood
10	chr19:38617000-38652000	Strong transcription	Fetal Intestine Small	intestine
11	chr19:38618200-38651000	Strong transcription	Fetal Intestine Large	intestine
12	chr19:38619600-38647800	Strong transcription	Fetal Stomach	stomach
13	chr19:38624400-38652400	Weak transcription	Fetal Thymus	thymus
14	chr19:38626000-38643400	Weak transcription	Placenta	Placenta
15	chr19:38626400-38643400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr19:38626400-38652200	Strong transcription	A549	lung
17	chr19:38626600-38643600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr19:38626800-38646000	Weak transcription	HMEC	breast
19	chr19:38627000-38652400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr19:38628400-38652600	Weak transcription	Right Atrium	heart
21	chr19:38628600-38645000	Strong transcription	Sigmoid Colon	Sigmoid Colon
22	chr19:38628800-38645200	Strong transcription	Duodenum Mucosa	Duodenum
23	chr19:38628800-38646400	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr19:38628800-38651200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr19:38629200-38652600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr19:38629600-38651600	Strong transcription	GM12878-XiMat	blood
27	chr19:38633000-38651000	Strong transcription	Primary B cells from cord blood	blood
28	chr19:38633000-38652400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr19:38633200-38652800	Weak transcription	Colon Smooth Muscle	Colon
30	chr19:38633400-38650800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr19:38633400-38653000	Weak transcription	Fetal Brain Male	brain
32	chr19:38634200-38643200	Weak transcription	Fetal Lung	lung
33	chr19:38635400-38652600	Weak transcription	Stomach Mucosa	stomach
34	chr19:38636600-38643600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr19:38636600-38652600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr19:38636800-38643800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr19:38637000-38652400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr19:38637000-38652800	Weak transcription	Brain Substantia Nigra	brain
39	chr19:38637200-38643600	Weak transcription	Rectal Smooth Muscle	rectum
40	chr19:38637400-38643000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr19:38637400-38643600	Weak transcription	Brain Anterior Caudate	brain
42	chr19:38638200-38667200	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr19:38638400-38645000	Strong transcription	Gastric	stomach
44	chr19:38638400-38650600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr19:38639400-38643400	Weak transcription	Left Ventricle	heart
46	chr19:38639400-38646600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr19:38639600-38644600	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr19:38640000-38647000	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr19:38640200-38643000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr19:38640200-38645000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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