Variant report

Variant	rs11878648
Chromosome Location	chr19:39638039-39638040
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	chr19:39635749..39637767-chr19:39638007..39640559,2	K562	blood:
2	chr19:39635690..39638303-chr19:39642762..39645272,3	MCF-7	breast:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11878229	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11879084	0.89[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11879196	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11879341	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];0.91[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11880984	1.00[EUR][1000 genomes]
rs11881029	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11882129	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11882668	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11882711	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11882955	1.00[EUR][1000 genomes]
rs16973211	0.84[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16973231	1.00[CEU][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57716250	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57769351	1.00[EUR][1000 genomes]
rs58626126	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58909586	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59303188	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60229944	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61641657	1.00[EUR][1000 genomes]
rs7246294	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7254424	1.00[EUR][1000 genomes]
rs7260015	1.00[CEU][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73549583	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73549585	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73549593	1.00[AMR][1000 genomes]
rs73549600	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73551720	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73551743	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73551744	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73551749	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73551752	0.90[AFR][1000 genomes]
rs73551786	1.00[EUR][1000 genomes]
rs73553708	1.00[EUR][1000 genomes]
rs73553711	1.00[EUR][1000 genomes]
rs73553738	1.00[EUR][1000 genomes]
rs73553740	1.00[EUR][1000 genomes]
rs73553742	1.00[EUR][1000 genomes]
rs73930290	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73930300	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73933809	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73933837	1.00[EUR][1000 genomes]
rs8101586	1.00[EUR][1000 genomes]
rs8111473	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833829	chr19:39569681-39730777	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv432048	chr19:39572060-39850060	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 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	chr19:39617400-39659800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr19:39617800-39641600	Weak transcription	Thymus	Thymus
3	chr19:39618400-39646600	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr19:39622600-39639600	Weak transcription	HSMM	muscle
5	chr19:39623400-39646000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr19:39624000-39647000	Weak transcription	NHLF	lung
7	chr19:39627200-39646800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr19:39627600-39641200	Weak transcription	Hela-S3	cervix
9	chr19:39627600-39645800	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr19:39629200-39639400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr19:39630800-39646800	Weak transcription	Osteobl	bone
12	chr19:39630800-39651000	Weak transcription	NHDF-Ad	bronchial
13	chr19:39631000-39660000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr19:39631800-39639400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr19:39631800-39640800	Weak transcription	K562	blood
16	chr19:39631800-39644600	Weak transcription	Primary T cells from cord blood	blood
17	chr19:39634600-39638200	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr19:39634800-39638400	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr19:39634800-39638400	Enhancers	H1 Cell Line	embryonic stem cell
20	chr19:39634800-39638400	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr19:39634800-39638400	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr19:39634800-39638400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr19:39635000-39638200	Enhancers	Brain Angular Gyrus	brain
24	chr19:39635000-39638200	Enhancers	Fetal Thymus	thymus
25	chr19:39635000-39638600	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr19:39635400-39639600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr19:39635400-39639600	Weak transcription	GM12878-XiMat	blood
28	chr19:39635400-39645600	Weak transcription	Spleen	Spleen
29	chr19:39635400-39647000	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr19:39635600-39639600	Weak transcription	NHEK	skin
31	chr19:39635600-39639800	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr19:39635600-39647000	Weak transcription	NH-A	brain
33	chr19:39635600-39647400	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr19:39635800-39639600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr19:39635800-39642800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr19:39635800-39646000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr19:39636000-39639400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr19:39636000-39639400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr19:39636000-39647400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr19:39636000-39668200	Weak transcription	Primary B cells from cord blood	blood
41	chr19:39636200-39638400	Enhancers	Brain Hippocampus Middle	brain
42	chr19:39636200-39639400	Weak transcription	Liver	Liver
43	chr19:39636200-39644800	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr19:39636400-39639400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr19:39636400-39642000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr19:39636400-39645000	Weak transcription	Adipose Nuclei	Adipose
47	chr19:39636400-39665600	Weak transcription	Aorta	Aorta
48	chr19:39636800-39638200	Enhancers	Brain Cingulate Gyrus	brain
49	chr19:39636800-39638200	Enhancers	Fetal Intestine Large	intestine
50	chr19:39636800-39639600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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