Variant report

Variant	rs548359376
Chromosome Location	chr4:16226750-16226751
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA2	chr4:16226463-16226787	HepG2	liver:	n/a	chr4:16226620-16226632 chr4:16226680-16226692
2	E2F4	chr4:16226509-16227090	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr4:16226421-16229959	MCF10A-Er-Src	breast:	n/a	n/a
4	HCFC1	chr4:16226663-16228826	Hela-S3	cervix:	n/a	n/a
5	TBP	chr4:16226575-16227520	Hela-S3	cervix:	n/a	n/a
6	TBP	chr4:16226606-16227206	GM12878	blood:	n/a	n/a
7	STAT3	chr4:16226516-16226824	MCF10A-Er-Src	breast:	n/a	n/a
8	ATF2	chr4:16226676-16227202	GM12878	blood:	n/a	n/a
9	POLR2A	chr4:16226639-16229966	PBDE	blood:	n/a	n/a
10	CEBPB	chr4:16226750-16227074	IMR90	lung:	n/a	n/a
11	FOXA1	chr4:16226426-16226926	HepG2	liver:	n/a	chr4:16226618-16226633 chr4:16226620-16226632 chr4:16226680-16226692
12	FOXA1	chr4:16226386-16226812	HepG2	liver:	n/a	chr4:16226618-16226633 chr4:16226620-16226632 chr4:16226680-16226692
13	TBL1XR1	chr4:16226346-16227606	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:16212529..16219737-chr4:16225844..16229602,8	MCF-7	breast:
2	chr4:15681714..15684664-chr4:16226494..16229781,3	K562	blood:

Variant related genes	Relation type
TAPT1-AS1	TF binding region
ENSG00000169762	Chromatin interaction
ENSG00000237765	Chromatin interaction
ENSG00000118564	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004821	chr4:16055996-16830629	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv537046	chr4:16055996-16830629	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv537047	chr4:16182060-16375787	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv878720	chr4:16222046-16242215	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv537048	chr4:16226406-16375787	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	esv3405372	chr4:16226679-16229727	Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:16208800-16227200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr4:16214400-16226800	Weak transcription	Fetal Muscle Trunk	muscle
3	chr4:16224400-16227000	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr4:16224400-16227000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr4:16224400-16227200	Enhancers	Small Intestine	intestine
6	chr4:16224600-16227000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr4:16224600-16227000	Flanking Active TSS	Liver	Liver
8	chr4:16224800-16227600	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr4:16225000-16227200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr4:16225200-16227200	Flanking Active TSS	Primary T cells from cord blood	blood
11	chr4:16225600-16226800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:16225600-16226800	Flanking Active TSS	Brain Anterior Caudate	brain
13	chr4:16225600-16227000	Flanking Active TSS	Brain Substantia Nigra	brain
14	chr4:16225600-16227000	Flanking Active TSS	Hela-S3	cervix
15	chr4:16225600-16227200	Flanking Active TSS	Brain Angular Gyrus	brain
16	chr4:16225600-16227400	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr4:16225600-16227600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
18	chr4:16225600-16230800	Active TSS	A549	lung
19	chr4:16225800-16226800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr4:16225800-16226800	Enhancers	HUVEC	blood vessel
21	chr4:16225800-16227000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr4:16225800-16227000	Flanking Active TSS	Fetal Brain Female	brain
23	chr4:16225800-16227000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
24	chr4:16225800-16227000	Flanking Active TSS	Rectal Smooth Muscle	rectum
25	chr4:16225800-16227200	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr4:16225800-16227400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
27	chr4:16225800-16227400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr4:16225800-16227400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chr4:16225800-16227400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr4:16225800-16227600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
31	chr4:16225800-16230000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr4:16226000-16226800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr4:16226000-16226800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr4:16226000-16226800	Flanking Active TSS	Fetal Lung	lung
35	chr4:16226000-16227000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr4:16226000-16227000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr4:16226000-16227000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
38	chr4:16226000-16227000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr4:16226000-16227000	Flanking Active TSS	Fetal Kidney	kidney
40	chr4:16226000-16227400	Flanking Active TSS	Brain Germinal Matrix	brain
41	chr4:16226000-16227600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
42	chr4:16226200-16226800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr4:16226200-16226800	Enhancers	HSMMtube	muscle
44	chr4:16226200-16226800	Flanking Active TSS	NHLF	lung
45	chr4:16226200-16227000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr4:16226200-16227000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr4:16226200-16227200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr4:16226200-16227200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr4:16226200-16227200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr4:16226200-16227200	Flanking Active TSS	Fetal Heart	heart

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