Variant report

Variant	rs567709302
Chromosome Location	chr19:18653014-18653015
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr19:18652977-18653488	GM12892	blood:	n/a	chr19:18653270-18653286
2	MXI1	chr19:18652812-18654146	SK-N-SH	brain:	n/a	n/a
3	MAZ	chr19:18652989-18655214	IMR90	lung:	n/a	n/a
4	RUNX3	chr19:18652951-18653383	GM12878	blood:	n/a	n/a
5	RUNX3	chr19:18653013-18653697	GM12878	blood:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18651038..18656783-chr19:18680897..18685521,14	K562	blood:
2	chr19:18651498..18655648-chr19:18680777..18683781,5	MCF-7	breast:
3	chr19:18649378..18653671-chr19:18667425..18670328,5	MCF-7	breast:
4	chr19:18648889..18650815-chr19:18652717..18655388,4	K562	blood:
5	chr19:18640357..18642464-chr19:18650908..18653787,2	MCF-7	breast:
6	chr19:18630875..18635401-chr19:18651200..18655863,9	MCF-7	breast:
7	chr19:18629748..18634724-chr19:18652806..18658264,15	K562	blood:
8	chr19:18650801..18653024-chr19:18671456..18674102,2	K562	blood:
9	chr19:18642522..18644970-chr19:18651017..18653848,4	K562	blood:
10	chr19:18652388..18655450-chr19:18667016..18670630,4	K562	blood:
11	chr19:18652388..18654838-chr19:18668474..18670630,2	K562	blood:
12	chr19:18629917..18634196-chr19:18652150..18655589,5	MCF-7	breast:
13	chr19:18629959..18634840-chr19:18652830..18656407,13	K562	blood:

No data

Variant related genes	Relation type
FKBP8	TF binding region
ENSG00000269191	Chromatin interaction
ENSG00000105701	Chromatin interaction
ENSG00000221983	Chromatin interaction
ENSG00000105700	Chromatin interaction
ENSG00000268938	Chromatin interaction
ENSG00000105656	Chromatin interaction
ENSG00000268030	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911274	chr19:18440942-18691942	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv1057795	chr19:18453362-18883844	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' 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	nsv543925	chr19:18453362-18883844	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
4	nsv428018	chr19:18454891-18663981	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
5	nsv532615	chr19:18534867-18796031	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
6	nsv1061733	chr19:18574940-18679155	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
7	nsv1055794	chr19:18611545-18676933	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
8	nsv911281	chr19:18613917-18758255	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
9	nsv911282	chr19:18624964-18928480	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
10	nsv911283	chr19:18626732-18689830	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
11	nsv833776	chr19:18638028-18782264	Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
12	nsv911284	chr19:18643036-18684216	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
13	nsv911285	chr19:18646932-18667472	Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
14	esv3345432	chr19:18652252-18655950	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
15	esv3446773	chr19:18652777-18655825	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
16	nsv911286	chr19:18652844-18811112	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 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	chr19:18632800-18654600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:18633000-18653400	Weak transcription	Psoas Muscle	Psoas
3	chr19:18633200-18653200	Weak transcription	Right Atrium	heart
4	chr19:18633800-18653400	Weak transcription	Fetal Kidney	kidney
5	chr19:18646600-18653200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr19:18647000-18653200	Weak transcription	Small Intestine	intestine
7	chr19:18647800-18653200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr19:18649400-18653200	Weak transcription	HSMMtube	muscle
9	chr19:18652000-18653200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr19:18652000-18653600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr19:18652200-18653200	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr19:18652200-18653200	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr19:18652200-18653200	Genic enhancers	Fetal Muscle Trunk	muscle
14	chr19:18652200-18653200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
15	chr19:18652400-18653200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr19:18652400-18653200	Weak transcription	Fetal Lung	lung
17	chr19:18652400-18653200	Enhancers	NHDF-Ad	bronchial
18	chr19:18652400-18653400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr19:18652400-18653600	Enhancers	Fetal Brain Male	brain
20	chr19:18652600-18653200	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr19:18652600-18653200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr19:18652600-18653200	Weak transcription	Aorta	Aorta
23	chr19:18652600-18653200	Enhancers	Liver	Liver
24	chr19:18652600-18653200	Enhancers	Duodenum Mucosa	Duodenum
25	chr19:18652600-18653200	Weak transcription	Ovary	ovary
26	chr19:18652600-18653200	Enhancers	Pancreas	Pancrea
27	chr19:18652600-18653200	Enhancers	HMEC	breast
28	chr19:18652600-18653600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
29	chr19:18652600-18653800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
30	chr19:18652600-18654600	Active TSS	Brain Angular Gyrus	brain
31	chr19:18652800-18653200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr19:18652800-18653200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr19:18652800-18653200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr19:18652800-18653200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr19:18652800-18653200	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr19:18652800-18653200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr19:18652800-18653200	Enhancers	Brain Cingulate Gyrus	brain
38	chr19:18652800-18653200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr19:18652800-18653200	Enhancers	Brain Substantia Nigra	brain
40	chr19:18652800-18653200	Genic enhancers	Fetal Intestine Small	intestine
41	chr19:18652800-18653200	Enhancers	Left Ventricle	heart
42	chr19:18652800-18653200	Weak transcription	Lung	lung
43	chr19:18652800-18653200	Enhancers	Placenta Amnion	Placenta Amnion
44	chr19:18652800-18653200	Active TSS	Rectal Smooth Muscle	rectum
45	chr19:18652800-18653200	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr19:18652800-18653400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr19:18652800-18653400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr19:18652800-18653400	Enhancers	Placenta	Placenta
49	chr19:18652800-18653400	Weak transcription	Gastric	stomach
50	chr19:18652800-18653400	Enhancers	Spleen	Spleen

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