Variant report

Variant	rs4806352
Chromosome Location	chr19:37297957-37297958
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:37288230..37290127-chr19:37296601..37299448,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000267254	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs4806366	1.00[ASN][1000 genomes]
rs55661810	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55752123	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55995417	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56148414	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56333504	0.98[EUR][1000 genomes]
rs62115567	1.00[ASN][1000 genomes]
rs62115568	1.00[ASN][1000 genomes]
rs7246310	0.98[EUR][1000 genomes]
rs7249694	0.99[EUR][1000 genomes]
rs73037167	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73037169	0.99[EUR][1000 genomes]
rs73037172	0.99[EUR][1000 genomes]
rs73037195	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73039109	0.87[ASN][1000 genomes]
rs8107274	0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064851	chr19:36910259-37689721	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv1065698	chr19:36916796-37690124	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv543999	chr19:36916796-37690124	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers 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 target site	61 gene(s)	inside rSNPs	diseases
4	nsv529817	chr19:36930549-37654062	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers 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 target site	73 gene(s)	inside rSNPs	diseases
6	nsv469794	chr19:37129858-37310257	Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv482392	chr19:37129858-37310257	ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	esv34384	chr19:37134068-37330613	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS 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	29 gene(s)	inside rSNPs	diseases
9	nsv817833	chr19:37146694-37357289	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
10	esv3517005	chr19:37193712-37364110	Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
11	esv3517004	chr19:37193762-37363960	ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
12	esv3517006	chr19:37193762-37363960	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
13	nsv911650	chr19:37241141-37331614	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
14	nsv521605	chr19:37261810-37483444	ZNF genes & repeats Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
15	nsv1060155	chr19:37274915-37458788	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
16	nsv544000	chr19:37274915-37458788	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
17	esv3507199	chr19:37284708-37805639	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
18	esv3507200	chr19:37284708-37805639	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
19	esv3497360	chr19:37290273-37745365	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers 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	25 gene(s)	inside rSNPs	diseases
20	esv3497361	chr19:37290273-37745365	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4806352	AC012309.5	cis	Thyroid	GTEx
rs4806352	ZNF781	cis	Thyroid	GTEx
rs4806352	AC012309.5	cis	Esophagus Mucosa	GTEx

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37287400-37327400	ZNF genes & repeats	Liver	Liver
2	chr19:37289000-37309200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr19:37289200-37300600	Weak transcription	Right Ventricle	heart
4	chr19:37289200-37301600	Weak transcription	HSMMtube	muscle
5	chr19:37289200-37327000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
6	chr19:37289400-37327600	ZNF genes & repeats	Adipose Nuclei	Adipose
7	chr19:37289600-37301000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr19:37289600-37302200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
9	chr19:37289600-37302200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr19:37289600-37327400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr19:37289600-37327400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
12	chr19:37290000-37301800	Weak transcription	Fetal Heart	heart
13	chr19:37291000-37298200	Weak transcription	NHDF-Ad	bronchial
14	chr19:37291600-37298800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr19:37292000-37303400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr19:37292000-37328400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
17	chr19:37292200-37299400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr19:37292200-37309400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr19:37292600-37298200	Weak transcription	Brain Angular Gyrus	brain
20	chr19:37293400-37302200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
21	chr19:37293400-37325600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
22	chr19:37293600-37325000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
23	chr19:37294000-37304200	Weak transcription	HSMM	muscle
24	chr19:37294800-37303800	Weak transcription	Osteobl	bone
25	chr19:37295000-37327200	ZNF genes & repeats	Fetal Lung	lung
26	chr19:37295600-37324800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
27	chr19:37295600-37327200	ZNF genes & repeats	Fetal Brain Female	brain
28	chr19:37295800-37298200	Weak transcription	Rectal Smooth Muscle	rectum
29	chr19:37295800-37307600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr19:37296000-37299800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr19:37296200-37305200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr19:37296400-37300000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
33	chr19:37296400-37300800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr19:37296400-37308200	ZNF genes & repeats	Brain Hippocampus Middle	brain
35	chr19:37296600-37298000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr19:37296600-37299400	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr19:37296600-37299800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr19:37297000-37298000	ZNF genes & repeats	Placenta	Placenta
39	chr19:37297000-37298200	Weak transcription	Primary B cells from cord blood	blood
40	chr19:37297000-37299800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr19:37297000-37299800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr19:37297000-37300200	ZNF genes & repeats	Fetal Muscle Leg	muscle
43	chr19:37297000-37301200	ZNF genes & repeats	Fetal Intestine Large	intestine
44	chr19:37297200-37300000	ZNF genes & repeats	Colon Smooth Muscle	Colon
45	chr19:37297400-37298200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr19:37297400-37298200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr19:37297400-37298200	Weak transcription	Ovary	ovary
48	chr19:37297400-37299000	Strong transcription	Left Ventricle	heart
49	chr19:37297400-37299600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr19:37297600-37298600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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