Variant report

Variant	rs552538515
Chromosome Location	chr4:6894193-6894194
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:6885538..6887515-chr4:6893779..6896691,2	MCF-7	breast:
2	chr4:6734514..6737444-chr4:6894118..6897087,2	K562	blood:
3	chr4:6891115..6895158-chr4:6915729..6918708,4	K562	blood:
4	chr4:6894128..6894976-chr8:99305696..99306577,2	NB4	blood:
5	chr4:6889897..6899719-chr4:6906701..6919549,30	K562	blood:
6	chr4:6886066..6889013-chr4:6893099..6895187,2	K562	blood:
7	chr4:6892678..6895514-chr4:6919772..6922371,2	K562	blood:
8	chr4:6891733..6899525-chr4:6905110..6914778,23	K562	blood:
9	chr4:6889053..6892272-chr4:6892737..6895879,4	K562	blood:
10	chr4:6893893..6894818-chr4:7072137..7072790,2	MCF-7	breast:
11	chr4:6883009..6885178-chr4:6892808..6895702,2	K562	blood:
12	chr4:6716842..6719180-chr4:6892770..6894428,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000186222	Chromatin interaction
ENSG00000132405	Chromatin interaction
ENSG00000104361	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv4216	chr4:6876592-6915629	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv878529	chr4:6883012-6983677	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv878530	chr4:6888932-7058473	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	esv3491705	chr4:6894126-6901649	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	esv3491706	chr4:6894126-6901649	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:6890400-6894200	Weak transcription	Brain Substantia Nigra	brain
2	chr4:6890400-6895200	Weak transcription	Pancreas	Pancrea
3	chr4:6891400-6896000	Enhancers	Primary hematopoietic stem cells	blood
4	chr4:6891800-6894200	Weak transcription	Fetal Heart	heart
5	chr4:6891800-6894800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr4:6892000-6895600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr4:6892600-6894800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr4:6892600-6895400	Enhancers	Lung	lung
9	chr4:6893000-6895800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr4:6893200-6894400	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr4:6893200-6894600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
12	chr4:6893200-6894600	Enhancers	Primary B cells from peripheral blood	blood
13	chr4:6893200-6894600	Enhancers	Placenta	Placenta
14	chr4:6893200-6894800	Enhancers	Fetal Muscle Leg	muscle
15	chr4:6893200-6894800	Enhancers	NHDF-Ad	bronchial
16	chr4:6893200-6895000	Enhancers	Spleen	Spleen
17	chr4:6893200-6895400	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr4:6893200-6895400	Enhancers	Fetal Thymus	thymus
19	chr4:6893200-6895400	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr4:6893400-6894200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr4:6893400-6894400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr4:6893400-6894400	Enhancers	Right Ventricle	heart
23	chr4:6893400-6894600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr4:6893400-6894600	Enhancers	HSMM	muscle
25	chr4:6893400-6894800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr4:6893400-6894800	Enhancers	Fetal Stomach	stomach
27	chr4:6893400-6894800	Flanking Active TSS	K562	blood
28	chr4:6893400-6894800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr4:6893400-6895000	Enhancers	NHLF	lung
30	chr4:6893400-6895400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
31	chr4:6893400-6895400	Flanking Active TSS	HepG2	liver
32	chr4:6893400-6895400	Enhancers	NH-A	brain
33	chr4:6893400-6895600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr4:6893400-6896400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr4:6893400-6896800	Enhancers	Fetal Intestine Small	intestine
36	chr4:6893400-6897000	Enhancers	Fetal Intestine Large	intestine
37	chr4:6893600-6894200	Enhancers	Brain Hippocampus Middle	brain
38	chr4:6893600-6894200	Enhancers	Thymus	Thymus
39	chr4:6893600-6894400	Flanking Active TSS	Primary B cells from cord blood	blood
40	chr4:6893600-6894400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
41	chr4:6893600-6894400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr4:6893600-6894400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
43	chr4:6893600-6894600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr4:6893600-6894600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr4:6893600-6894600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr4:6893600-6894800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr4:6893600-6894800	Enhancers	Fetal Lung	lung
48	chr4:6893600-6894800	Flanking Active TSS	A549	lung
49	chr4:6893600-6894800	Enhancers	HSMMtube	muscle
50	chr4:6893600-6895000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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