Variant report

Variant	rs4808204
Chromosome Location	chr19:19590721-19590722
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:19536218..19537719-chr19:19589722..19592712,2	K562	blood:
2	chr19:19487227..19491094-chr19:19586686..19591214,5	MCF-7	breast:
3	chr19:19590124..19591949-chr19:19596092..19599221,4	K562	blood:
4	chr19:19585281..19589285-chr19:19590381..19594944,7	K562	blood:
5	chr19:19584315..19588308-chr19:19588802..19591974,4	K562	blood:
6	chr19:19480922..19483739-chr19:19588283..19591150,2	MCF-7	breast:

Extended variants
information (count: 58 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1036215	0.93[EUR][1000 genomes]
rs10406278	0.85[EUR][1000 genomes]
rs11085264	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11668203	0.92[EUR][1000 genomes]
rs11669558	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11669730	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11670687	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11670761	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11670775	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11670882	0.94[EUR][1000 genomes]
rs11671253	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1529745	0.83[EUR][1000 genomes]
rs1560687	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16996127	0.98[EUR][1000 genomes]
rs17684164	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2060274	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2060275	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2905429	0.80[AMR][1000 genomes]
rs2905434	0.84[EUR][1000 genomes]
rs2916070	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2916072	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2916075	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2965179	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2965181	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2965184	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2965186	0.84[EUR][1000 genomes]
rs34487417	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34667451	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45556231	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs45631651	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4808205	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4808206	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4808951	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4808958	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4808962	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4808968	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4808969	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4808970	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55927782	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56280531	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56291054	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56330647	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58074958	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61744761	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7245689	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7250233	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7252453	0.95[EUR][1000 genomes]
rs7256028	0.98[EUR][1000 genomes]
rs751857	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs754256	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8100927	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8101219	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8102502	0.93[EUR][1000 genomes]
rs8105642	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8110171	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8110250	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8111093	0.82[AFR][1000 genomes];0.83[EUR][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	nsv911305	chr19:19303802-19663850	Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4808204	SF4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19577800-19598000	Weak transcription	Ovary	ovary
2	chr19:19579200-19598000	Weak transcription	Small Intestine	intestine
3	chr19:19579400-19599400	Weak transcription	Brain Angular Gyrus	brain
4	chr19:19579800-19591000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr19:19579800-19593400	Weak transcription	Fetal Kidney	kidney
6	chr19:19579800-19595600	Weak transcription	Osteobl	bone
7	chr19:19579800-19595800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr19:19579800-19595800	Weak transcription	Colon Smooth Muscle	Colon
9	chr19:19579800-19595800	Weak transcription	HUVEC	blood vessel
10	chr19:19579800-19598600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr19:19579800-19599200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr19:19579800-19599800	Weak transcription	Brain Substantia Nigra	brain
13	chr19:19580600-19595200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr19:19580600-19597200	Weak transcription	Brain Anterior Caudate	brain
15	chr19:19580800-19593600	Strong transcription	Fetal Intestine Small	intestine
16	chr19:19581600-19595200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr19:19582200-19597600	Strong transcription	Dnd41	blood
18	chr19:19583600-19593200	Weak transcription	Fetal Lung	lung
19	chr19:19584200-19600000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr19:19584400-19595600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr19:19585200-19591000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr19:19585400-19591000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr19:19585400-19591200	Weak transcription	Aorta	Aorta
24	chr19:19585400-19596000	Weak transcription	HMEC	breast
25	chr19:19585600-19594200	Weak transcription	NH-A	brain
26	chr19:19585800-19591200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr19:19586200-19593200	Weak transcription	Fetal Heart	heart
28	chr19:19586200-19593600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr19:19586400-19595600	Weak transcription	NHDF-Ad	bronchial
30	chr19:19586600-19593600	Weak transcription	Psoas Muscle	Psoas
31	chr19:19586800-19590800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr19:19586800-19594000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr19:19587000-19591000	Weak transcription	Brain Hippocampus Middle	brain
34	chr19:19587000-19591400	Weak transcription	Stomach Smooth Muscle	stomach
35	chr19:19587000-19595600	Weak transcription	Left Ventricle	heart
36	chr19:19587000-19599000	Weak transcription	Brain Germinal Matrix	brain
37	chr19:19587000-19599200	Weak transcription	Fetal Brain Female	brain
38	chr19:19587200-19590800	Weak transcription	GM12878-XiMat	blood
39	chr19:19587200-19591200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr19:19587200-19599600	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr19:19587400-19590800	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr19:19587400-19590800	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr19:19587400-19593200	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr19:19587400-19595600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr19:19587600-19591000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr19:19587600-19591200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr19:19587600-19591400	Weak transcription	Adipose Nuclei	Adipose
48	chr19:19587600-19593200	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr19:19587600-19593200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr19:19587600-19593400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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