Variant report

Variant	rs57078518
Chromosome Location	chr2:74264766-74264767
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: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	chr2:74263173..74265651-chr2:74272992..74275826,3	K562	blood:
2	chr2:74260106..74261716-chr2:74262386..74265335,3	K562	blood:
3	chr2:74210926..74215380-chr2:74261729..74265368,4	K562	blood:
4	chr2:74263494..74265315-chr2:74423990..74425965,2	K562	blood:
5	chr2:74263154..74265649-chr2:74267103..74270206,3	MCF-7	breast:
6	chr2:74263750..74267356-chr2:74281436..74283825,3	K562	blood:
7	chr2:74262372..74265122-chr2:74265413..74267143,2	K562	blood:
8	chr2:74263419..74265541-chr2:74374081..74377142,3	K562	blood:
9	chr2:74260003..74261827-chr2:74262096..74265346,4	K562	blood:
10	chr2:74263852..74266331-chr2:74266668..74270220,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000065911	Chromatin interaction
ENSG00000255989	Chromatin interaction
ENSG00000235499	Chromatin interaction
ENSG00000163170	Chromatin interaction
ENSG00000187605	Chromatin interaction
ENSG00000225439	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs56196018	1.00[AFR][1000 genomes]
rs56220427	1.00[AFR][1000 genomes]
rs56247747	1.00[AMR][1000 genomes]
rs60232103	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60800561	1.00[AFR][1000 genomes]
rs61190810	1.00[AFR][1000 genomes]
rs72816199	1.00[AFR][1000 genomes]
rs73948286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73948287	1.00[AMR][1000 genomes]
rs73948289	1.00[AMR][1000 genomes]
rs73951129	1.00[AFR][1000 genomes]
rs73951131	1.00[AFR][1000 genomes]
rs73951132	1.00[AFR][1000 genomes]
rs73951133	1.00[AFR][1000 genomes]
rs73951134	1.00[AFR][1000 genomes]
rs73951135	1.00[AFR][1000 genomes]
rs73951136	1.00[AFR][1000 genomes]
rs73951137	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3584956	chr2:74197109-74317135	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv818048	chr2:74225434-74313080	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74231600-74273800	Weak transcription	A549	lung
2	chr2:74240000-74276200	Weak transcription	Hela-S3	cervix
3	chr2:74256000-74269600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr2:74256200-74266400	Weak transcription	HepG2	liver
5	chr2:74259400-74269600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:74259800-74265400	Weak transcription	Pancreas	Pancrea
7	chr2:74259800-74269200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr2:74260000-74266200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:74260000-74267400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:74260000-74269400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:74260000-74269400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr2:74260000-74269800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:74260000-74269800	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr2:74260000-74269800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr2:74260000-74273200	Weak transcription	Brain Germinal Matrix	brain
16	chr2:74260200-74265200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:74260200-74267000	Weak transcription	Fetal Heart	heart
18	chr2:74260200-74269200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr2:74260200-74270400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:74260200-74271600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:74260200-74272600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:74260200-74273600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:74260400-74267000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr2:74260400-74270200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr2:74260400-74271600	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr2:74260800-74270000	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr2:74260800-74278400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr2:74262600-74267000	Enhancers	Thymus	Thymus
29	chr2:74262800-74267000	Enhancers	Primary B cells from peripheral blood	blood
30	chr2:74262800-74269400	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr2:74263000-74265000	Enhancers	Fetal Lung	lung
32	chr2:74263000-74265000	Enhancers	Dnd41	blood
33	chr2:74263000-74265600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr2:74263000-74265600	Enhancers	Fetal Intestine Small	intestine
35	chr2:74263000-74265800	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr2:74263000-74269000	Enhancers	Fetal Thymus	thymus
37	chr2:74263000-74269800	Enhancers	Primary T cells from cord blood	blood
38	chr2:74263000-74270600	Enhancers	Placenta	Placenta
39	chr2:74263200-74265200	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr2:74263200-74265200	Flanking Active TSS	K562	blood
41	chr2:74263200-74265400	Flanking Active TSS	GM12878-XiMat	blood
42	chr2:74263200-74265400	Enhancers	NHLF	lung
43	chr2:74263200-74265800	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr2:74263400-74265000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr2:74263400-74265600	Enhancers	Fetal Intestine Large	intestine
46	chr2:74263400-74265800	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr2:74263400-74265800	Enhancers	Brain Substantia Nigra	brain
48	chr2:74263400-74265800	Enhancers	Duodenum Mucosa	Duodenum
49	chr2:74263400-74267800	Enhancers	Brain Hippocampus Middle	brain
50	chr2:74263600-74265000	Enhancers	Fetal Stomach	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links