Variant report

Variant	rs919268
Chromosome Location	chr19:52671898-52671899
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:52671404..52675593-chr19:52690586..52694996,6	MCF-7	breast:
2	chr19:52641011..52643212-chr19:52671736..52674683,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000105568	Chromatin interaction
ENSG00000204611	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11666474	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs35715660	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7249460	1.00[JPT][hapmap]
rs8111199	1.00[CEU][hapmap];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065410	chr19:52103914-52889530	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	596 gene(s)	inside rSNPs	diseases
2	esv3366000	chr19:52491073-52842946	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv1066015	chr19:52502213-52890308	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv544059	chr19:52502213-52890308	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv580007	chr19:52660279-52693277	Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv1059417	chr19:52662380-52703801	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	esv2760529	chr19:52662380-52703813	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 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	chr19:52661600-52672200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
2	chr19:52662000-52672200	Strong transcription	Skeletal Muscle Male	skeletal muscle
3	chr19:52663000-52672800	Strong transcription	Fetal Muscle Trunk	muscle
4	chr19:52663000-52673000	Strong transcription	Adipose Nuclei	Adipose
5	chr19:52663200-52672200	Strong transcription	Ovary	ovary
6	chr19:52663200-52673400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr19:52663200-52673400	Weak transcription	Small Intestine	intestine
8	chr19:52663200-52673400	Weak transcription	HUVEC	blood vessel
9	chr19:52663600-52673600	Weak transcription	Psoas Muscle	Psoas
10	chr19:52663800-52672200	Strong transcription	Brain Germinal Matrix	brain
11	chr19:52664000-52672200	Strong transcription	H1 Cell Line	embryonic stem cell
12	chr19:52664600-52672200	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr19:52665000-52672400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr19:52665200-52672600	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr19:52665200-52673200	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr19:52665400-52672600	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr19:52665600-52672200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr19:52665600-52672200	Strong transcription	Fetal Muscle Leg	muscle
19	chr19:52665800-52672400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr19:52665800-52672600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr19:52666400-52672400	Strong transcription	Dnd41	blood
22	chr19:52666400-52672600	Strong transcription	Primary B cells from peripheral blood	blood
23	chr19:52666400-52672800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr19:52666400-52673400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr19:52666600-52673000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr19:52667000-52672600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr19:52667000-52672800	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr19:52667200-52672200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr19:52667200-52672800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr19:52667200-52673000	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr19:52667200-52673400	Weak transcription	Right Ventricle	heart
32	chr19:52667200-52673400	Weak transcription	Stomach Mucosa	stomach
33	chr19:52667600-52673400	Weak transcription	Placenta	Placenta
34	chr19:52667800-52672200	Strong transcription	Fetal Intestine Large	intestine
35	chr19:52667800-52672600	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr19:52667800-52673000	Strong transcription	Fetal Stomach	stomach
37	chr19:52668000-52672400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr19:52668200-52672000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr19:52668400-52672600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr19:52668600-52672200	Strong transcription	Osteobl	bone
41	chr19:52668600-52673200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr19:52669000-52673000	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr19:52669000-52673400	Weak transcription	HepG2	liver
44	chr19:52669000-52673600	Weak transcription	Aorta	Aorta
45	chr19:52669000-52673600	Weak transcription	Colonic Mucosa	Colon
46	chr19:52669000-52674000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr19:52669200-52672200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr19:52669200-52672800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr19:52669200-52673400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr19:52670000-52672200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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