Variant report

Variant	rs3848624
Chromosome Location	chr19:38262816-38262817
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:38261286..38264562-chr19:38269904..38271542,3	MCF-7	breast:
2	chr19:38259097..38263090-chr19:38267286..38270188,4	K562	blood:
3	chr19:38261551..38263090-chr19:38267286..38270188,2	K562	blood:

Variant related genes	Relation type
ENSG00000189144	Chromatin interaction
ENSG00000267422	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1056405	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11083430	0.81[ASN][1000 genomes]
rs11083434	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11665869	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11666021	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11666662	0.81[ASN][1000 genomes]
rs11672440	0.97[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs12459013	0.81[ASN][1000 genomes]
rs12460735	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1478462	0.81[ASN][1000 genomes]
rs17249047	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs241935	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs241952	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs241954	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs241955	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35205379	0.85[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs4088299	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4356596	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4510143	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60731897	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7254809	0.91[EUR][1000 genomes]
rs73025630	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73027418	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73035158	0.81[ASN][1000 genomes]
rs73037036	0.81[ASN][1000 genomes]
rs73039018	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73041004	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73041022	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73041034	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73041045	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73041047	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8103383	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv579468	chr19:37977609-38293487	ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	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
3	nsv833820	chr19:38190721-38414049	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38231800-38269200	Weak transcription	Fetal Brain Male	brain
2	chr19:38236400-38269400	Weak transcription	Aorta	Aorta
3	chr19:38238800-38269400	Weak transcription	Small Intestine	intestine
4	chr19:38239000-38269400	Weak transcription	Colonic Mucosa	Colon
5	chr19:38242800-38269000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr19:38247800-38269200	Weak transcription	Hela-S3	cervix
7	chr19:38248400-38264600	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr19:38248800-38269400	Weak transcription	NH-A	brain
9	chr19:38249200-38269000	Weak transcription	Spleen	Spleen
10	chr19:38249800-38269400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr19:38250600-38264000	Strong transcription	Primary T cells from cord blood	blood
12	chr19:38250600-38264400	Strong transcription	Duodenum Smooth Muscle	Duodenum
13	chr19:38250600-38265000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr19:38250600-38266400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr19:38251800-38269400	Weak transcription	Gastric	stomach
16	chr19:38251800-38269400	Weak transcription	HUVEC	blood vessel
17	chr19:38252200-38269400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr19:38252600-38269000	Weak transcription	NHEK	skin
19	chr19:38253400-38263600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr19:38253600-38263600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr19:38254600-38269400	Weak transcription	Right Ventricle	heart
22	chr19:38254800-38269200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr19:38255400-38264800	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr19:38255600-38263000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr19:38255600-38264000	Strong transcription	Adipose Nuclei	Adipose
26	chr19:38255600-38264200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr19:38255800-38265200	Strong transcription	Primary B cells from cord blood	blood
28	chr19:38255800-38266400	ZNF genes & repeats	Liver	Liver
29	chr19:38256400-38263800	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr19:38256600-38263000	Strong transcription	Dnd41	blood
31	chr19:38256800-38264600	Strong transcription	Primary B cells from peripheral blood	blood
32	chr19:38256800-38269400	Weak transcription	NHLF	lung
33	chr19:38257000-38263800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr19:38257000-38264200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
35	chr19:38257200-38263000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr19:38258400-38263600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr19:38258400-38267600	Weak transcription	K562	blood
38	chr19:38258800-38269200	Weak transcription	HSMMtube	muscle
39	chr19:38259200-38269200	Weak transcription	Brain Angular Gyrus	brain
40	chr19:38259200-38269200	Weak transcription	Fetal Kidney	kidney
41	chr19:38259200-38269200	Weak transcription	HSMM	muscle
42	chr19:38259200-38269400	Weak transcription	Psoas Muscle	Psoas
43	chr19:38259400-38265200	Strong transcription	Ovary	ovary
44	chr19:38259400-38269200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr19:38260000-38264000	Strong transcription	Primary hematopoietic stem cells	blood
46	chr19:38260200-38264600	Strong transcription	Skeletal Muscle Male	skeletal muscle
47	chr19:38260200-38269000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr19:38260200-38269200	Weak transcription	Fetal Thymus	thymus
49	chr19:38260800-38269000	Weak transcription	Thymus	Thymus
50	chr19:38260800-38269200	Weak transcription	HUES6 Cell Line	embryonic stem cell

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