Variant report

Variant	rs533730705
Chromosome Location	chr2:38948837-38948838
allele	C/T
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:38766439..38768320-chr2:38948180..38949983,2	K562	blood:
2	chr2:38890666..38892556-chr2:38947054..38950004,2	K562	blood:
3	chr2:38948167..38950183-chr2:38951156..38954719,3	MCF-7	breast:
4	chr2:38827236..38831286-chr2:38946528..38952512,8	K562	blood:
5	chr2:38827561..38831599-chr2:38948321..38950539,4	MCF-7	breast:
6	chr2:38938428..38940592-chr2:38945131..38949430,3	K562	blood:
7	chr2:38807837..38810352-chr2:38947655..38950217,2	K562	blood:
8	chr2:38805216..38808046-chr2:38947623..38949999,2	K562	blood:
9	chr2:38830096..38832315-chr2:38948047..38950594,2	MCF-7	breast:
10	chr2:38948561..38951558-chr2:38978236..38979833,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000115875	Chromatin interaction
ENSG00000152147	Chromatin interaction
ENSG00000235586	Chromatin interaction
ENSG00000143889	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916059	chr2:38332341-39119398	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	143 gene(s)	inside rSNPs	diseases
2	nsv9646	chr2:38358311-39082189	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
3	esv1800555	chr2:38929745-38950126	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	esv1830359	chr2:38929745-38950126	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	esv1797820	chr2:38941956-38972456	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv820974	chr2:38945458-38972971	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
7	esv1814150	chr2:38948483-38972456	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:38894400-38960600	Weak transcription	Brain Substantia Nigra	brain
2	chr2:38894800-38949400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr2:38909400-38960600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:38918000-38949400	Weak transcription	Primary B cells from cord blood	blood
5	chr2:38918600-38956800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr2:38927600-38957000	Weak transcription	Brain Hippocampus Middle	brain
7	chr2:38928800-38971600	Weak transcription	Small Intestine	intestine
8	chr2:38930000-38956600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr2:38930600-38965000	Weak transcription	Gastric	stomach
10	chr2:38932800-38956800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr2:38936400-38957200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:38936400-38960600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr2:38936400-38968400	Weak transcription	Colonic Mucosa	Colon
14	chr2:38937200-38956600	Weak transcription	Fetal Brain Female	brain
15	chr2:38937600-38970400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr2:38938000-38949400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr2:38938000-38949400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr2:38939000-38956600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:38939200-38949400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr2:38939200-38949400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr2:38939200-38958600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:38940400-38949400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr2:38943600-38949200	Weak transcription	Liver	Liver
24	chr2:38943600-38949400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr2:38943600-38949400	Weak transcription	Psoas Muscle	Psoas
26	chr2:38943600-38956000	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr2:38943600-38958600	Weak transcription	Aorta	Aorta
28	chr2:38944000-38949400	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr2:38945800-38949000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr2:38946200-38949000	Enhancers	HMEC	breast
31	chr2:38946400-38949000	Weak transcription	Thymus	Thymus
32	chr2:38946400-38957000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr2:38946800-38949200	Enhancers	NHLF	lung
34	chr2:38947000-38951000	Enhancers	Fetal Heart	heart
35	chr2:38947200-38949600	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr2:38947200-38949800	Enhancers	Adipose Nuclei	Adipose
37	chr2:38947200-38950000	Enhancers	Fetal Stomach	stomach
38	chr2:38947400-38949000	Enhancers	Osteobl	bone
39	chr2:38947400-38949800	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr2:38947400-38950000	Weak transcription	Duodenum Mucosa	Duodenum
41	chr2:38947600-38949400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr2:38947600-38949800	Enhancers	Placenta	Placenta
43	chr2:38947600-38950600	Enhancers	HSMM	muscle
44	chr2:38947800-38949000	Enhancers	Ovary	ovary
45	chr2:38947800-38949000	Enhancers	Right Ventricle	heart
46	chr2:38947800-38949600	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr2:38947800-38950400	Enhancers	Fetal Brain Male	brain
48	chr2:38947800-38953200	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr2:38948000-38949600	Weak transcription	Stomach Smooth Muscle	stomach
50	chr2:38948000-38949800	Enhancers	Duodenum Smooth Muscle	Duodenum

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