Variant report

Variant	rs10405596
Chromosome Location	chr19:41314720-41314721
allele	C/T
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:41167418..41169032-chr19:41313685..41315602,2	MCF-7	breast:
2	chr19:41282306..41285368-chr19:41311943..41315414,5	MCF-7	breast:
3	chr19:41253320..41258890-chr19:41311950..41315573,6	MCF-7	breast:
4	chr19:41221543..41224231-chr19:41314588..41316621,2	MCF-7	breast:
5	chr19:41033292..41035547-chr19:41313299..41315377,2	K562	blood:
6	chr19:41121010..41122780-chr19:41313951..41315644,2	MCF-7	breast:
7	chr19:41267484..41269645-chr19:41312151..41314875,2	K562	blood:
8	chr19:41280805..41286068-chr19:41308324..41316733,13	K562	blood:
9	chr19:41261509..41264476-chr19:41312368..41314936,2	K562	blood:
10	chr19:41197857..41200529-chr19:41314192..41315970,2	K562	blood:
11	chr19:41220720..41224635-chr19:41312175..41316788,5	MCF-7	breast:
12	chr19:41253887..41263110-chr19:41303366..41316425,33	K562	blood:
13	chr19:41282175..41285758-chr19:41311471..41315456,8	K562	blood:

No data

Variant related genes	Relation type
ENSG00000261857	Chromatin interaction
ENSG00000188493	Chromatin interaction
ENSG00000171570	Chromatin interaction
ENSG00000077312	Chromatin interaction
ENSG00000123815	Chromatin interaction
ENSG00000086544	Chromatin interaction
ENSG00000167578	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10403040	0.82[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10405633	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10411008	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10413760	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10416308	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10423139	0.91[ASN][1000 genomes]
rs11083567	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11083568	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11881124	0.82[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs17713068	0.85[JPT][hapmap]
rs2287691	0.85[JPT][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28660501	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3745213	0.85[JPT][hapmap]
rs3875144	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56101381	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8113056	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833832	chr19:41260363-41334597	Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv2758500	chr19:41291627-41546068	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	esv2758762	chr19:41291627-41546068	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1066637	chr19:41309211-41597896	Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv521459	chr19:41313202-41333284	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41305800-41316200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr19:41306400-41316200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr19:41306400-41316800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr19:41306600-41314800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr19:41307000-41315800	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr19:41308400-41316400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr19:41309000-41316200	Genic enhancers	Placenta	Placenta
8	chr19:41309200-41315600	Genic enhancers	Right Ventricle	heart
9	chr19:41309400-41316000	Genic enhancers	Spleen	Spleen
10	chr19:41309800-41316200	Genic enhancers	Lung	lung
11	chr19:41309800-41316400	Genic enhancers	Primary B cells from peripheral blood	blood
12	chr19:41310000-41315200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
13	chr19:41311200-41316400	Strong transcription	Dnd41	blood
14	chr19:41312400-41316000	Weak transcription	Small Intestine	intestine
15	chr19:41312800-41316000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr19:41313000-41315200	Strong transcription	K562	blood
17	chr19:41313000-41316000	Genic enhancers	Fetal Muscle Trunk	muscle
18	chr19:41313000-41316400	Weak transcription	Fetal Kidney	kidney
19	chr19:41313200-41314800	Strong transcription	Fetal Lung	lung
20	chr19:41313200-41315000	Strong transcription	HepG2	liver
21	chr19:41313200-41315200	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr19:41313200-41315400	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr19:41313200-41315800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr19:41313200-41315800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr19:41313200-41316000	Weak transcription	Fetal Heart	heart
26	chr19:41313400-41314800	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr19:41313400-41315000	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr19:41313400-41315200	Strong transcription	Gastric	stomach
29	chr19:41313400-41315200	Strong transcription	NHLF	lung
30	chr19:41313400-41315400	Strong transcription	H9 Cell Line	embryonic stem cell
31	chr19:41313400-41315400	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr19:41313400-41315400	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr19:41313400-41315400	Strong transcription	Fetal Intestine Large	intestine
34	chr19:41313400-41315400	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr19:41313400-41315600	Genic enhancers	Adipose Nuclei	Adipose
36	chr19:41313400-41315800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr19:41313400-41315800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr19:41313400-41315800	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr19:41313400-41315800	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr19:41313400-41315800	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr19:41313400-41315800	Strong transcription	Rectal Smooth Muscle	rectum
42	chr19:41313400-41315800	Strong transcription	Thymus	Thymus
43	chr19:41313400-41315800	Strong transcription	HSMM	muscle
44	chr19:41313400-41315800	Strong transcription	Osteobl	bone
45	chr19:41313400-41316000	Strong transcription	Muscle Satellite Cultured Cells	--
46	chr19:41313400-41316000	Strong transcription	NHEK	skin
47	chr19:41313400-41316400	Genic enhancers	Primary T cells fromperipheralblood	blood
48	chr19:41313400-41316400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
49	chr19:41313600-41314800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr19:41313600-41315000	Strong transcription	HUES48 Cell Line	embryonic stem cell

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