Variant report

Variant	rs372048088
Chromosome Location	chr19:36240985-36240986
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:36240963-36241281	MCF-7	breast:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:36207379..36214815-chr19:36234227..36241330,25	MCF-7	breast:
2	chr19:36239415..36241356-chr19:36242820..36244877,2	MCF-7	breast:
3	chr19:36239375..36241509-chr19:36425781..36428099,2	MCF-7	breast:
4	chr19:36239350..36241235-chr19:36263074..36266129,3	MCF-7	breast:
5	chr19:36239474..36241411-chr19:36265453..36267969,2	K562	blood:
6	chr19:36238866..36244880-chr19:36246037..36252437,21	MCF-7	breast:

No data

Variant related genes	Relation type
LIN37	TF binding region
ENSG00000267439	TF binding region
U2AF1L4	TF binding region
ENSG00000267120	TF binding region
ENSG00000267328	TF binding region
ENSG00000267439	Chromatin interaction
ENSG00000004776	Chromatin interaction
ENSG00000272333	Chromatin interaction
ENSG00000004777	Chromatin interaction
ENSG00000167595	Chromatin interaction
ENSG00000126243	Chromatin interaction
ENSG00000267796	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv911630	chr19:36149761-36290977	Enhancers Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	69 gene(s)	inside rSNPs	diseases
3	nsv458566	chr19:36156588-36265508	Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
4	nsv579422	chr19:36156588-36265508	Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
5	nsv911631	chr19:36169285-36290977	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
6	nsv911632	chr19:36174176-36288297	Strong transcription Active TSS Flanking Active TSS Enhancers 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	66 gene(s)	inside rSNPs	diseases
7	nsv911633	chr19:36206050-36283847	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
8	nsv911634	chr19:36206050-36290977	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
9	nsv543996	chr19:36210269-36265431	Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
10	nsv1057830	chr19:36210269-36279794	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
11	nsv543997	chr19:36210269-36279794	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
12	nsv911635	chr19:36217333-36283847	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
13	nsv458567	chr19:36221051-36283847	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
14	nsv579423	chr19:36221051-36283847	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
15	nsv911636	chr19:36240960-36290977	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36239200-36241000	Active TSS	HSMMtube	muscle
2	chr19:36239800-36241000	Enhancers	Fetal Heart	heart
3	chr19:36240000-36241000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr19:36240000-36241000	Flanking Active TSS	Stomach Smooth Muscle	stomach
5	chr19:36240000-36241400	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr19:36240000-36241400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr19:36240000-36246200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr19:36240200-36241000	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr19:36240200-36241000	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr19:36240200-36241000	Enhancers	Primary B cells from peripheral blood	blood
11	chr19:36240200-36241000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr19:36240200-36241000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
13	chr19:36240200-36241000	Enhancers	Fetal Intestine Large	intestine
14	chr19:36240200-36241000	Enhancers	Fetal Stomach	stomach
15	chr19:36240200-36241000	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr19:36240200-36241200	Enhancers	Pancreas	Pancrea
17	chr19:36240200-36241400	Enhancers	Liver	Liver
18	chr19:36240200-36241400	Enhancers	Esophagus	oesophagus
19	chr19:36240200-36241600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr19:36240200-36242000	Enhancers	Primary T cells fromperipheralblood	blood
21	chr19:36240200-36242800	Weak transcription	Aorta	Aorta
22	chr19:36240200-36243400	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr19:36240200-36243800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr19:36240200-36244600	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr19:36240200-36246200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr19:36240400-36241000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr19:36240400-36241000	Enhancers	Primary B cells from cord blood	blood
28	chr19:36240400-36241000	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr19:36240400-36241000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr19:36240400-36241000	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr19:36240400-36241000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr19:36240400-36241000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr19:36240400-36241000	Enhancers	Brain Hippocampus Middle	brain
34	chr19:36240400-36241000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr19:36240400-36241000	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr19:36240400-36241000	Enhancers	Right Ventricle	heart
37	chr19:36240400-36241000	Enhancers	A549	lung
38	chr19:36240400-36241000	Enhancers	HMEC	breast
39	chr19:36240400-36241000	Enhancers	HUVEC	blood vessel
40	chr19:36240400-36241000	Enhancers	K562	blood
41	chr19:36240400-36241000	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr19:36240400-36241000	Enhancers	Osteobl	bone
43	chr19:36240400-36241200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr19:36240400-36241200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr19:36240400-36241200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr19:36240400-36241200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr19:36240400-36241200	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr19:36240400-36241200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr19:36240400-36241200	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr19:36240400-36241200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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