Variant report

Variant	rs418007
Chromosome Location	chr19:41087817-41087818
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:41084714..41088277-chr19:41106890..41109795,3	K562	blood:

Variant related genes	Relation type
ENSG00000090006	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs16974365	0.93[CEU][hapmap];0.94[CHB][hapmap];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2290682	0.93[CHB][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs421739	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4803346	0.82[ASN][1000 genomes]
rs58633563	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62107871	0.82[ASN][1000 genomes]
rs62107874	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs710160	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs814518	0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs814519	0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1830682	chr19:40880127-41270055	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
2	nsv911714	chr19:41006426-41165252	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv911715	chr19:41014922-41141434	Bivalent Enhancer Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	nsv1057634	chr19:41019512-41174259	Enhancers Active TSS Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv911716	chr19:41023511-41109456	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv911717	chr19:41023511-41141434	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	nsv911719	chr19:41033109-41147087	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
8	nsv911720	chr19:41033109-41156940	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
9	nsv911721	chr19:41040334-41124931	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
10	nsv911722	chr19:41040334-41176403	Bivalent Enhancer Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
11	nsv911723	chr19:41075990-41195279	Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
12	nsv869561	chr19:41077513-41139834	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
13	nsv1064699	chr19:41086506-41174259	Genic enhancers Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41083600-41091200	Weak transcription	Psoas Muscle	Psoas
2	chr19:41083600-41092800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:41083600-41093600	Weak transcription	Fetal Lung	lung
4	chr19:41083600-41095400	Weak transcription	Fetal Kidney	kidney
5	chr19:41083600-41100400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr19:41083600-41101000	Weak transcription	HSMMtube	muscle
7	chr19:41084000-41089800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr19:41084000-41091600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr19:41084000-41094000	Weak transcription	HSMM	muscle
10	chr19:41084000-41095400	Strong transcription	Fetal Intestine Small	intestine
11	chr19:41084000-41097600	Strong transcription	Fetal Stomach	stomach
12	chr19:41084200-41089000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr19:41084200-41091200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr19:41084200-41093800	Weak transcription	NHEK	skin
15	chr19:41084200-41099800	Weak transcription	Fetal Brain Male	brain
16	chr19:41084400-41090800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr19:41084400-41091600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr19:41084400-41092000	Weak transcription	HepG2	liver
19	chr19:41084400-41094200	Weak transcription	HMEC	breast
20	chr19:41084400-41100000	Weak transcription	Stomach Mucosa	stomach
21	chr19:41084600-41091000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr19:41084600-41095200	Strong transcription	Fetal Muscle Leg	muscle
23	chr19:41084600-41097600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr19:41084600-41100400	Weak transcription	NHDF-Ad	bronchial
25	chr19:41084600-41102600	Weak transcription	Right Atrium	heart
26	chr19:41084800-41089000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr19:41084800-41096600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr19:41084800-41097200	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr19:41084800-41097600	Strong transcription	Thymus	Thymus
30	chr19:41085000-41091000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr19:41085200-41089200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
32	chr19:41085200-41089800	Strong transcription	Skeletal Muscle Male	skeletal muscle
33	chr19:41085200-41090800	Strong transcription	Placenta	Placenta
34	chr19:41085200-41094000	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr19:41085400-41089600	Strong transcription	Esophagus	oesophagus
36	chr19:41085400-41089800	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr19:41085400-41090600	Strong transcription	Osteobl	bone
38	chr19:41085400-41094800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr19:41085400-41097200	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr19:41085600-41089800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr19:41085600-41091600	Strong transcription	Fetal Thymus	thymus
42	chr19:41085800-41088800	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr19:41085800-41089600	Strong transcription	H9 Cell Line	embryonic stem cell
44	chr19:41085800-41089800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr19:41085800-41090200	Strong transcription	Fetal Muscle Trunk	muscle
46	chr19:41085800-41090600	Strong transcription	Dnd41	blood
47	chr19:41085800-41090600	Strong transcription	NHLF	lung
48	chr19:41085800-41090800	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr19:41085800-41095200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr19:41085800-41095200	Strong transcription	Primary T helper cells PMA-I stimulated	--

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