Variant report

Variant	rs8111093
Chromosome Location	chr19:19505548-19505549
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:19499586..19501861-chr19:19503072..19505827,3	K562	blood:
2	chr19:19502977..19506681-chr19:19513070..19516267,3	MCF-7	breast:
3	chr19:19485841..19488416-chr19:19504636..19506140,2	K562	blood:
4	chr19:19505389..19507306-chr19:19508971..19511086,3	MCF-7	breast:
5	chr19:19495579..19499237-chr19:19499394..19505586,7	K562	blood:
6	chr19:19503000..19505018-chr19:19505310..19507817,2	K562	blood:
7	chr19:19500069..19502358-chr19:19504221..19506557,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000267234	Chromatin interaction
ENSG00000167491	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10406278	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11085264	0.83[EUR][1000 genomes]
rs11668203	0.91[EUR][1000 genomes]
rs11669730	0.81[EUR][1000 genomes]
rs11670687	0.83[EUR][1000 genomes]
rs11670761	0.81[EUR][1000 genomes]
rs11670775	0.81[EUR][1000 genomes]
rs11671253	0.83[EUR][1000 genomes]
rs1529745	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1557723	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1560687	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16996127	0.82[EUR][1000 genomes]
rs17684164	0.82[EUR][1000 genomes]
rs1989867	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2011503	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2060274	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2060275	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2315282	0.81[EUR][1000 genomes]
rs2860494	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2905429	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2905433	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2905434	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2916070	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2916072	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2916075	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2965178	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2965179	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2965181	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2965184	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2965186	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2965187	0.92[AFR][1000 genomes]
rs2965190	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2965195	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2965201	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34487417	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34667451	0.83[EUR][1000 genomes]
rs4239639	0.85[AMR][1000 genomes]
rs45556231	0.81[EUR][1000 genomes]
rs45631651	0.81[EUR][1000 genomes]
rs4808204	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs4808205	0.81[EUR][1000 genomes]
rs4808206	0.81[EUR][1000 genomes]
rs4808951	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4808958	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs4808962	0.90[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs4808968	0.81[EUR][1000 genomes]
rs4808969	0.81[EUR][1000 genomes]
rs55927782	0.81[EUR][1000 genomes]
rs56280531	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs56291054	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56330647	0.82[EUR][1000 genomes]
rs57436187	0.82[AMR][1000 genomes]
rs58074958	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6511029	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7245689	0.82[EUR][1000 genomes]
rs7250233	0.82[EUR][1000 genomes]
rs7256028	0.82[EUR][1000 genomes]
rs751857	0.83[EUR][1000 genomes]
rs754256	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs756997	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs756999	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8100927	0.81[EUR][1000 genomes]
rs8101219	0.81[EUR][1000 genomes]
rs8105642	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8110171	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8110250	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][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	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
2	nsv1056419	chr19:19421218-19510611	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8111093	SF4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19497600-19515800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:19498000-19505600	Weak transcription	Gastric	stomach
3	chr19:19498000-19506600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr19:19498000-19510400	Weak transcription	A549	lung
5	chr19:19498000-19510400	Weak transcription	NHDF-Ad	bronchial
6	chr19:19498000-19515600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr19:19498200-19505800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr19:19498200-19510400	Weak transcription	Fetal Stomach	stomach
9	chr19:19498400-19513600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr19:19498800-19506800	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr19:19499600-19505600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr19:19499600-19507000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr19:19499600-19507400	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr19:19499800-19505800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr19:19499800-19506800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr19:19499800-19510400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr19:19500200-19505600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr19:19500200-19505600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr19:19500200-19506400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr19:19500200-19510400	Weak transcription	Brain Hippocampus Middle	brain
21	chr19:19500400-19505600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr19:19500400-19505600	Weak transcription	NHLF	lung
23	chr19:19500400-19506800	Enhancers	Primary T cells from cord blood	blood
24	chr19:19500400-19509800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr19:19500400-19515400	Weak transcription	Fetal Heart	heart
26	chr19:19500600-19505600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr19:19500600-19510400	Weak transcription	Fetal Kidney	kidney
28	chr19:19500600-19515800	Weak transcription	Right Ventricle	heart
29	chr19:19501200-19514000	Weak transcription	Pancreas	Pancrea
30	chr19:19501400-19505600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr19:19501400-19505800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr19:19501400-19505800	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr19:19501400-19511000	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr19:19501400-19513600	Weak transcription	Psoas Muscle	Psoas
35	chr19:19501400-19513800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr19:19501600-19505600	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr19:19501600-19505800	Weak transcription	Liver	Liver
38	chr19:19501600-19506200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr19:19501800-19506000	Enhancers	Primary hematopoietic stem cells	blood
40	chr19:19501800-19506400	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr19:19501800-19510800	Weak transcription	Brain Substantia Nigra	brain
42	chr19:19502600-19510400	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr19:19502800-19505600	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr19:19502800-19505600	Weak transcription	HepG2	liver
45	chr19:19502800-19506200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr19:19503200-19505600	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr19:19503200-19506000	Enhancers	Fetal Muscle Leg	muscle
48	chr19:19503200-19506200	Enhancers	Lung	lung
49	chr19:19503400-19506000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr19:19503400-19506800	Enhancers	Fetal Thymus	thymus

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