Variant report

Variant	rs3787041
Chromosome Location	chr19:19231332-19231333
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:19006401..19008657-chr19:19231143..19233883,2	K562	blood:
2	chr19:19229446..19234006-chr19:19241302..19251526,15	K562	blood:
3	chr19:19229745..19232931-chr19:19245473..19249545,7	K562	blood:
4	chr19:19169419..19177029-chr19:19229685..19233171,13	K562	blood:
5	chr19:19215063..19218544-chr19:19229817..19231578,4	K562	blood:
6	chr19:19216749..19218544-chr19:19229927..19231578,2	K562	blood:
7	chr19:19142905..19145164-chr19:19230033..19232752,3	K562	blood:
8	chr19:19204300..19204888-chr19:19230973..19231716,2	K562	blood:
9	chr19:19170341..19177029-chr19:19229928..19235464,11	K562	blood:

No data

Variant related genes	Relation type
ENSG00000181035	Chromatin interaction
ENSG00000105676	Chromatin interaction
ENSG00000064545	Chromatin interaction
ENSG00000223802	Chromatin interaction
ENSG00000130283	Chromatin interaction
ENSG00000064607	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10403272	0.85[JPT][hapmap]
rs10417318	1.00[CHB][hapmap];0.82[JPT][hapmap];0.91[ASN][1000 genomes]
rs11085249	0.85[JPT][hapmap]
rs2013813	0.85[JPT][hapmap]
rs2269869	0.85[JPT][hapmap]
rs3761082	1.00[CHB][hapmap];0.82[JPT][hapmap];0.91[ASN][1000 genomes]
rs4808172	0.85[JPT][hapmap]
rs4808176	0.85[JPT][hapmap]
rs4808895	0.85[JPT][hapmap]
rs4808910	0.85[MEX][hapmap]
rs4808916	0.85[JPT][hapmap]
rs4808917	0.85[JPT][hapmap]
rs4808925	1.00[CHB][hapmap];0.83[CHD][hapmap];0.82[JPT][hapmap];0.91[ASN][1000 genomes]
rs7248977	1.00[CHB][hapmap]
rs72993464	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72993466	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72993474	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72993480	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72993489	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833779	chr19:19163492-19313091	Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs3787041	BST2	cis	parietal	SCAN
rs3787041	OCEL1	cis	parietal	SCAN
rs3787041	FOXH1	trans	parietal	SCAN
rs3787041	FAM32A	cis	cerebellum	SCAN
rs3787041	ZNF93	cis	parietal	SCAN

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19180600-19245600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr19:19180600-19248400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr19:19203800-19245600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr19:19212600-19240800	Weak transcription	Aorta	Aorta
5	chr19:19217000-19236800	Weak transcription	Hela-S3	cervix
6	chr19:19217200-19247800	Weak transcription	Right Atrium	heart
7	chr19:19220400-19247800	Weak transcription	Psoas Muscle	Psoas
8	chr19:19220800-19242800	Weak transcription	Osteobl	bone
9	chr19:19221400-19232600	Weak transcription	HSMMtube	muscle
10	chr19:19221800-19231400	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr19:19221800-19235200	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr19:19221800-19242800	Weak transcription	Spleen	Spleen
13	chr19:19221800-19243200	Weak transcription	A549	lung
14	chr19:19222000-19240800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr19:19222200-19231400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr19:19222200-19233600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr19:19222200-19248200	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr19:19223200-19233400	Weak transcription	GM12878-XiMat	blood
19	chr19:19224000-19233600	Weak transcription	Fetal Lung	lung
20	chr19:19224200-19231600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr19:19224400-19233800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr19:19224400-19233800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr19:19224400-19234000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr19:19226600-19231800	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr19:19226800-19233000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr19:19226800-19242600	Weak transcription	HepG2	liver
27	chr19:19227000-19239800	Weak transcription	Fetal Kidney	kidney
28	chr19:19228000-19232600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr19:19229200-19232600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr19:19229200-19232800	Strong transcription	Skeletal Muscle Female	skeletal muscle
31	chr19:19229200-19234000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr19:19229400-19231400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr19:19229400-19231400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr19:19229400-19231600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr19:19229400-19231600	Strong transcription	Pancreas	Pancrea
36	chr19:19229400-19231800	Strong transcription	Adipose Nuclei	Adipose
37	chr19:19229400-19231800	Strong transcription	Fetal Muscle Trunk	muscle
38	chr19:19229400-19232200	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr19:19229400-19232400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr19:19229400-19232600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr19:19229400-19232600	Strong transcription	Lung	lung
42	chr19:19229400-19232600	Strong transcription	Dnd41	blood
43	chr19:19229400-19232800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr19:19229400-19233200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr19:19229400-19234600	Strong transcription	Skeletal Muscle Male	skeletal muscle
46	chr19:19229400-19235000	Strong transcription	Brain Inferior Temporal Lobe	brain
47	chr19:19229600-19232000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr19:19229600-19232400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr19:19229600-19232600	Strong transcription	NHLF	lung
50	chr19:19229600-19233000	Strong transcription	Fetal Muscle Leg	muscle

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