Variant report

Variant	rs2599437
Chromosome Location	chr19:43979439-43979440
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:43967220..43971779-chr19:43975734..43980942,11	MCF-7	breast:
2	chr19:43966005..43970813-chr19:43978022..43981097,6	K562	blood:
3	chr19:43978041..43981341-chr19:43983217..43985087,4	K562	blood:
4	chr19:43977172..43980889-chr19:44011519..44014130,3	MCF-7	breast:
5	chr19:43967515..43971066-chr19:43978004..43981821,7	MCF-7	breast:
6	chr19:43973600..43975639-chr19:43977848..43979529,3	MCF-7	breast:
7	chr19:43978041..43981148-chr19:43983217..43985461,3	K562	blood:
8	chr19:43977180..43982299-chr19:44003653..44008245,6	K562	blood:
9	chr19:43966005..43974691-chr19:43977125..43981104,12	K562	blood:
10	chr19:43973013..43975341-chr19:43978151..43982026,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000124466	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11668793	0.81[CEU][hapmap]
rs2260164	0.81[CEU][hapmap]
rs2599438	0.81[CEU][hapmap]
rs2599439	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682544	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682582	0.81[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055872	chr19:43173614-44075193	Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv544009	chr19:43173614-44075193	Enhancers ZNF genes & repeats Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv1067126	chr19:43260649-44075194	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv544015	chr19:43260649-44075194	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv1057657	chr19:43302497-44076564	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	nsv1059631	chr19:43316978-44075054	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
7	nsv544030	chr19:43316978-44075054	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	nsv532820	chr19:43807486-44080610	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	nsv1056721	chr19:43808474-44095077	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv532821	chr19:43842383-44357315	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
11	nsv1058162	chr19:43846238-44055058	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
12	esv3417194	chr19:43975161-44000760	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:43970000-43998200	Weak transcription	Gastric	stomach
2	chr19:43973800-43999800	Weak transcription	HepG2	liver
3	chr19:43978600-43980000	Flanking Active TSS	Hela-S3	cervix
4	chr19:43979000-43979600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr19:43979000-43979600	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr19:43979000-43979600	Flanking Active TSS	Colonic Mucosa	Colon
7	chr19:43979000-43979600	Enhancers	Fetal Heart	heart
8	chr19:43979000-43979600	Enhancers	Fetal Kidney	kidney
9	chr19:43979000-43979600	Enhancers	Fetal Lung	lung
10	chr19:43979000-43979800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr19:43979000-43979800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr19:43979000-43979800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr19:43979000-43979800	Active TSS	Duodenum Mucosa	Duodenum
14	chr19:43979000-43979800	Active TSS	Left Ventricle	heart
15	chr19:43979000-43979800	Active TSS	Ovary	ovary
16	chr19:43979000-43979800	Active TSS	Rectal Smooth Muscle	rectum
17	chr19:43979000-43979800	Active TSS	Right Ventricle	heart
18	chr19:43979000-43979800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr19:43979000-43980000	Active TSS	H9 Cell Line	embryonic stem cell
20	chr19:43979000-43980000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr19:43979000-43980000	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr19:43979000-43980000	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr19:43979000-43980000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr19:43979000-43980000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
25	chr19:43979000-43980000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
26	chr19:43979000-43980000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr19:43979000-43980000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
28	chr19:43979000-43980000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr19:43979000-43980000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr19:43979000-43980000	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr19:43979000-43980000	Active TSS	Brain Angular Gyrus	brain
32	chr19:43979000-43980000	Active TSS	Brain Anterior Caudate	brain
33	chr19:43979000-43980000	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr19:43979000-43980000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
35	chr19:43979000-43980000	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
36	chr19:43979000-43980000	Flanking Active TSS	Fetal Muscle Trunk	muscle
37	chr19:43979000-43980000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
38	chr19:43979000-43980000	Flanking Active TSS	Stomach Smooth Muscle	stomach
39	chr19:43979000-43980000	Flanking Active TSS	A549	lung
40	chr19:43979000-43980000	Flanking Active TSS	HUVEC	blood vessel
41	chr19:43979000-43980000	Flanking Active TSS	K562	blood
42	chr19:43979000-43980000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr19:43979000-43980000	Flanking Active TSS	NHEK	skin
44	chr19:43979000-43980000	Flanking Active TSS	Osteobl	bone
45	chr19:43979000-43980400	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr19:43979200-43979600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr19:43979200-43979600	Active TSS	Primary T cells from cord blood	blood
48	chr19:43979200-43979600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr19:43979200-43979600	Enhancers	Fetal Brain Male	brain
50	chr19:43979200-43979600	Active TSS	Skeletal Muscle Female	skeletal muscle

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