Variant report

Variant	rs2916075
Chromosome Location	chr19:19530590-19530591
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:19527087..19529612-chr19:19530409..19532277,2	K562	blood:
2	chr19:19529159..19531727-chr19:19537866..19539888,2	K562	blood:

Variant related genes	Relation type
ENSG00000167491	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs1036215	0.85[EUR][1000 genomes]
rs10406278	0.92[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs11085264	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11668203	1.00[EUR][1000 genomes]
rs11669558	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11669730	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11670687	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11670761	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11670775	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11670882	0.86[EUR][1000 genomes]
rs11671253	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1529745	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1560687	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16996127	0.90[EUR][1000 genomes]
rs17684164	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2060274	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2060275	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2860494	0.82[EUR][1000 genomes]
rs2905429	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2905433	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2905434	0.92[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2916070	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2916072	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2965178	0.83[EUR][1000 genomes]
rs2965179	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2965181	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2965184	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2965186	0.87[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2965187	0.87[AFR][1000 genomes]
rs2965195	0.83[EUR][1000 genomes]
rs2965201	0.92[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs34487417	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34667451	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs45556231	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs45631651	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4808204	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4808205	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4808206	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4808951	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4808958	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4808962	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4808968	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4808969	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4808970	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55927782	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56280531	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56291054	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56330647	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs58074958	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61744761	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6511029	0.81[EUR][1000 genomes]
rs7245689	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7250233	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7252453	0.87[EUR][1000 genomes]
rs7256028	0.90[EUR][1000 genomes]
rs751857	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs754256	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs756997	0.83[EUR][1000 genomes]
rs8100927	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8101219	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8102502	0.86[EUR][1000 genomes]
rs8105642	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8110171	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs8110250	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8111093	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[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
rs2916075	SF4	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19518600-19549800	Weak transcription	Fetal Brain Female	brain
2	chr19:19520800-19546800	Weak transcription	Hela-S3	cervix
3	chr19:19521000-19545400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr19:19521600-19531600	Weak transcription	Brain Anterior Caudate	brain
5	chr19:19521800-19536200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr19:19521800-19537600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr19:19522000-19531800	Weak transcription	HepG2	liver
8	chr19:19522000-19545000	Weak transcription	Fetal Lung	lung
9	chr19:19522200-19531800	Weak transcription	Fetal Intestine Large	intestine
10	chr19:19522200-19534600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr19:19522200-19548600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr19:19522200-19563400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr19:19522600-19533200	Weak transcription	Aorta	Aorta
14	chr19:19522600-19533600	Weak transcription	Fetal Stomach	stomach
15	chr19:19522600-19537600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr19:19524200-19531600	Weak transcription	NHEK	skin
17	chr19:19525200-19531600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr19:19525400-19538200	Enhancers	Primary T cells fromperipheralblood	blood
19	chr19:19526400-19535000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr19:19526600-19530800	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr19:19526600-19531800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr19:19526600-19531800	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr19:19526600-19533400	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr19:19526600-19533600	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr19:19527000-19530800	Enhancers	Left Ventricle	heart
26	chr19:19527000-19530800	Enhancers	Pancreas	Pancrea
27	chr19:19527000-19533200	Enhancers	Primary B cells from peripheral blood	blood
28	chr19:19527000-19534400	Enhancers	Fetal Muscle Trunk	muscle
29	chr19:19527000-19535600	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr19:19527200-19531600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr19:19527400-19530800	Enhancers	Fetal Thymus	thymus
32	chr19:19527400-19531800	Weak transcription	Ovary	ovary
33	chr19:19527600-19533200	Enhancers	Fetal Muscle Leg	muscle
34	chr19:19527800-19530800	Enhancers	HSMM	muscle
35	chr19:19527800-19532600	Enhancers	GM12878-XiMat	blood
36	chr19:19528000-19531400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr19:19528000-19533400	Enhancers	Spleen	Spleen
38	chr19:19528200-19530800	Enhancers	Esophagus	oesophagus
39	chr19:19528600-19532800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr19:19528800-19531800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr19:19528800-19539000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr19:19528800-19544200	Weak transcription	Fetal Heart	heart
43	chr19:19529000-19530600	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr19:19529000-19531400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr19:19529000-19531600	Weak transcription	Brain Angular Gyrus	brain
46	chr19:19529000-19531600	Weak transcription	Brain Germinal Matrix	brain
47	chr19:19529000-19531800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr19:19529000-19531800	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr19:19529000-19532400	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr19:19529000-19537000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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