Variant report

Variant	rs7255998
Chromosome Location	chr19:56657013-56657014
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs274178	0.92[GIH][hapmap]
rs274179	0.82[ASW][hapmap];0.83[GIH][hapmap];0.81[LWK][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes]
rs274184	0.83[AFR][1000 genomes]
rs274185	0.90[YRI][hapmap];0.84[AFR][1000 genomes]
rs59180052	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60577234	0.92[ASN][1000 genomes]
rs73617512	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8419	0.90[EUR][1000 genomes]

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	nsv1056598	chr19:56331762-56703428	Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
2	nsv1064371	chr19:56418215-56842450	ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
3	nsv1057316	chr19:56418215-56849458	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
4	nsv580354	chr19:56505685-56723492	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
5	nsv523651	chr19:56537528-56707048	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
6	nsv1057820	chr19:56555942-56720262	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
7	nsv528998	chr19:56578238-56707048	Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
8	nsv517365	chr19:56592286-56674548	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
9	nsv912513	chr19:56592286-56685463	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
10	nsv521744	chr19:56592286-56686953	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
11	nsv912516	chr19:56601298-56981382	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	93 gene(s)	inside rSNPs	diseases
12	nsv528361	chr19:56638845-56688570	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56653400-56657200	Enhancers	Primary hematopoietic stem cells	blood
2	chr19:56653400-56657600	Weak transcription	Ovary	ovary
3	chr19:56653400-56661200	Weak transcription	Psoas Muscle	Psoas
4	chr19:56653600-56658200	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr19:56653600-56658600	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr19:56653600-56659000	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr19:56653800-56658200	Weak transcription	NHLF	lung
8	chr19:56653800-56658400	Weak transcription	Aorta	Aorta
9	chr19:56653800-56658600	Weak transcription	Primary B cells from peripheral blood	blood
10	chr19:56653800-56658600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr19:56653800-56659000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr19:56653800-56660200	Weak transcription	Primary B cells from cord blood	blood
13	chr19:56653800-56660400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr19:56653800-56661200	Weak transcription	HSMMtube	muscle
15	chr19:56653800-56664200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr19:56653800-56664200	Weak transcription	HUVEC	blood vessel
17	chr19:56653800-56667200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr19:56653800-56669200	Weak transcription	HSMM	muscle
19	chr19:56653800-56669400	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr19:56653800-56673000	Weak transcription	Hela-S3	cervix
21	chr19:56653800-56674000	Weak transcription	Fetal Kidney	kidney
22	chr19:56654000-56657200	Weak transcription	Brain Germinal Matrix	brain
23	chr19:56654000-56657200	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr19:56654000-56658000	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr19:56654000-56658400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr19:56654000-56658400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr19:56654000-56658400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr19:56654000-56658600	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr19:56654000-56658600	Weak transcription	Brain Angular Gyrus	brain
30	chr19:56654000-56661000	Weak transcription	Fetal Brain Male	brain
31	chr19:56654000-56662000	Strong transcription	Fetal Stomach	stomach
32	chr19:56654000-56681600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr19:56654200-56657200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr19:56654200-56657400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr19:56654200-56657600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr19:56654200-56657600	Genic enhancers	Fetal Intestine Small	intestine
37	chr19:56654200-56657800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr19:56654200-56658400	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr19:56654200-56658600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr19:56654200-56658600	Weak transcription	Brain Substantia Nigra	brain
41	chr19:56654200-56658800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr19:56654200-56658800	Weak transcription	Colon Smooth Muscle	Colon
43	chr19:56654200-56663200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr19:56654200-56674000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr19:56654400-56657400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr19:56654400-56658200	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr19:56654400-56668400	Weak transcription	HMEC	breast
48	chr19:56654400-56671200	Weak transcription	Small Intestine	intestine
49	chr19:56654600-56658200	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr19:56654600-56658200	Weak transcription	Brain Cingulate Gyrus	brain

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