Variant report

Variant	rs527912841
Chromosome Location	chr2:38894748-38894749
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	chr2:38892007..38895113-chr2:38976994..38979857,4	K562	blood:
2	chr2:38824811..38832919-chr2:38891494..38898299,16	K562	blood:
3	chr2:38893888..38897011-chr2:38898419..38901251,3	K562	blood:
4	chr2:38825670..38832919-chr2:38891527..38903424,21	K562	blood:
5	chr2:38891733..38894492-chr2:38894527..38896151,2	K562	blood:
6	chr2:38818005..38820191-chr2:38893287..38895221,2	K562	blood:
7	chr2:38777679..38779633-chr2:38893883..38895640,2	K562	blood:
8	chr2:38884282..38886148-chr2:38894534..38896833,2	K562	blood:
9	chr2:38829496..38831232-chr2:38893143..38894875,2	MCF-7	breast:
10	chr2:38891861..38895889-chr2:38976029..38979857,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143889	Chromatin interaction
ENSG00000232518	Chromatin interaction
ENSG00000152147	Chromatin interaction
ENSG00000235586	Chromatin interaction
ENSG00000143891	Chromatin interaction
ENSG00000115875	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	nsv873882	chr2:38858669-38921498	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv873883	chr2:38881106-38932777	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv3388620	chr2:38894440-38894876	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	esv3448761	chr2:38894460-38894846	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	nsv213847	chr2:38894511-38894838	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:38892800-38894800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:38892800-38895200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
3	chr2:38892800-38895200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr2:38892800-38895400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:38892800-38895400	Active TSS	Right Atrium	heart
6	chr2:38892800-38895600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
7	chr2:38893600-38895200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:38893600-38895800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
9	chr2:38893800-38895200	Flanking Active TSS	Primary T cells from cord blood	blood
10	chr2:38893800-38897400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr2:38893800-38903000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:38894000-38895600	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr2:38894000-38896400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:38894000-38897400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:38894000-38903000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr2:38894000-38903000	Weak transcription	Lung	lung
17	chr2:38894000-38904200	Weak transcription	Esophagus	oesophagus
18	chr2:38894000-38904400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr2:38894000-38917600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:38894200-38894800	Enhancers	Primary B cells from peripheral blood	blood
21	chr2:38894200-38895000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr2:38894200-38895000	Enhancers	Colonic Mucosa	Colon
23	chr2:38894200-38895000	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr2:38894200-38895400	Flanking Active TSS	HepG2	liver
25	chr2:38894200-38895600	Enhancers	Fetal Muscle Leg	muscle
26	chr2:38894200-38897400	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr2:38894200-38897600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr2:38894200-38898200	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr2:38894200-38903200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:38894200-38903400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr2:38894200-38904000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr2:38894200-38904000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr2:38894200-38904000	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr2:38894200-38904600	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr2:38894200-38906800	Weak transcription	Brain Angular Gyrus	brain
36	chr2:38894200-38919000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr2:38894400-38894800	Enhancers	Primary hematopoietic stem cells	blood
38	chr2:38894400-38894800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr2:38894400-38894800	Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr2:38894400-38894800	Active TSS	Primary T helper cells fromperipheralblood	blood
41	chr2:38894400-38894800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr2:38894400-38894800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
43	chr2:38894400-38894800	Active TSS	Duodenum Mucosa	Duodenum
44	chr2:38894400-38894800	Enhancers	Fetal Muscle Trunk	muscle
45	chr2:38894400-38894800	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr2:38894400-38894800	Weak transcription	Small Intestine	intestine
47	chr2:38894400-38894800	Active TSS	Stomach Smooth Muscle	stomach
48	chr2:38894400-38895000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr2:38894400-38895000	Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr2:38894400-38895000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links