Variant report

Variant	rs11557114
Chromosome Location	chr19:42753649-42753650
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:42747132..42763787-chr19:42768368..42776785,67	MCF-7	breast:
2	chr19:42751996..42753719-chr19:42904557..42906194,2	MCF-7	breast:
3	chr19:42744297..42761073-chr19:42776978..42802286,113	MCF-7	breast:
4	chr19:42753011..42753994-chr19:42784711..42785693,2	K562	blood:
5	chr19:42743599..42762610-chr19:42780302..42801550,102	MCF-7	breast:

Variant related genes	Relation type
ENSG00000213904	Chromatin interaction
ENSG00000079432	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10410185	0.91[ASN][1000 genomes]
rs10410198	0.91[ASN][1000 genomes]
rs10410698	0.91[ASN][1000 genomes]
rs10412833	0.82[ASN][1000 genomes]
rs10426306	0.91[ASN][1000 genomes]
rs10426310	0.91[ASN][1000 genomes]
rs11878620	0.91[ASN][1000 genomes]
rs11882654	0.91[ASN][1000 genomes]
rs1206009	0.82[ASN][1000 genomes]
rs1209280	0.82[ASN][1000 genomes]
rs1211265	0.82[ASN][1000 genomes]
rs1676217	0.82[ASN][1000 genomes]
rs2267630	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2302485	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2537697	0.82[ASN][1000 genomes]
rs2615614	0.82[ASN][1000 genomes]
rs28537976	0.91[ASN][1000 genomes]
rs35493131	0.91[ASN][1000 genomes]
rs3810148	0.87[ASN][1000 genomes]
rs4141062	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57938324	0.91[ASN][1000 genomes]
rs61735151	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7258795	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73552881	0.91[ASN][1000 genomes]
rs73552895	0.91[ASN][1000 genomes]
rs741070	0.91[ASN][1000 genomes]
rs851612	0.87[ASN][1000 genomes]
rs851615	0.82[ASN][1000 genomes]
rs9636121	0.91[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	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv520239	chr19:42357455-42931004	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	esv1805469	chr19:42367635-42798851	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
4	nsv911782	chr19:42514712-42931004	Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
5	esv1794508	chr19:42580026-42791462	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
6	nsv1055554	chr19:42619671-42821642	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
7	nsv833833	chr19:42657276-42783122	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
8	nsv526186	chr19:42676481-43203507	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
9	esv2422471	chr19:42733141-43669485	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
10	nsv833834	chr19:42736444-42835027	Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	42 gene(s)	inside rSNPs	diseases
11	nsv911784	chr19:42741124-42787664	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	36 gene(s)	inside rSNPs	diseases
12	nsv911785	chr19:42741124-42917545	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
13	nsv911786	chr19:42744234-42797959	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42749000-42754200	Weak transcription	Aorta	Aorta
2	chr19:42749000-42754400	Weak transcription	Small Intestine	intestine
3	chr19:42749000-42757000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr19:42749400-42754400	Weak transcription	Psoas Muscle	Psoas
5	chr19:42749400-42754600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr19:42749400-42754600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr19:42749400-42755000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr19:42749400-42755800	Enhancers	Fetal Heart	heart
9	chr19:42749400-42756200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr19:42749600-42753800	Weak transcription	Primary B cells from cord blood	blood
11	chr19:42749600-42753800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr19:42749600-42754000	Weak transcription	Hela-S3	cervix
13	chr19:42749600-42754200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr19:42749600-42754800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr19:42749600-42755000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr19:42750000-42755000	Genic enhancers	Fetal Muscle Trunk	muscle
17	chr19:42750200-42754000	Weak transcription	Primary T cells from cord blood	blood
18	chr19:42750200-42754200	Genic enhancers	A549	lung
19	chr19:42750400-42755200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr19:42750600-42754600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr19:42750600-42755600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr19:42750800-42754600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr19:42750800-42754600	Strong transcription	Fetal Intestine Large	intestine
24	chr19:42750800-42754600	Genic enhancers	Fetal Muscle Leg	muscle
25	chr19:42750800-42755000	Strong transcription	Dnd41	blood
26	chr19:42751000-42753800	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr19:42751000-42754000	Strong transcription	Fetal Intestine Small	intestine
28	chr19:42751000-42754000	Weak transcription	Fetal Kidney	kidney
29	chr19:42751000-42754400	Weak transcription	Stomach Mucosa	stomach
30	chr19:42751000-42754800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr19:42751000-42756200	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr19:42751200-42753800	Strong transcription	Colon Smooth Muscle	Colon
33	chr19:42751200-42753800	Weak transcription	Rectal Smooth Muscle	rectum
34	chr19:42751200-42754000	Strong transcription	Fetal Stomach	stomach
35	chr19:42751200-42754800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
36	chr19:42751200-42755400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr19:42751400-42753800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr19:42751400-42753800	Strong transcription	Lung	lung
39	chr19:42751400-42753800	Weak transcription	HSMMtube	muscle
40	chr19:42751400-42754200	Weak transcription	Right Atrium	heart
41	chr19:42751400-42754400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr19:42751400-42754600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr19:42751400-42755000	Weak transcription	GM12878-XiMat	blood
44	chr19:42751600-42753800	Weak transcription	Brain Substantia Nigra	brain
45	chr19:42751600-42753800	Weak transcription	K562	blood
46	chr19:42751600-42753800	Weak transcription	NH-A	brain
47	chr19:42751600-42753800	Strong transcription	NHEK	skin
48	chr19:42751600-42754000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr19:42751600-42754000	Weak transcription	Brain Angular Gyrus	brain
50	chr19:42751600-42754200	Weak transcription	Fetal Brain Female	brain

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