Variant report

Variant	rs28621658
Chromosome Location	chr2:211023344-211023345
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:211023307-211023599	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:211016855..211018981-chr2:211020625..211023357,2	K562	blood:
2	chr2:211021199..211023398-chr2:211034356..211036456,2	MCF-7	breast:
3	chr2:211023133..211025046-chr2:211028754..211030676,2	MCF-7	breast:
4	chr2:211020442..211023394-chr2:211033818..211036148,3	MCF-7	breast:
5	chr2:211016855..211019287-chr2:211020625..211023750,3	K562	blood:

No data

Variant related genes	Relation type
KANSL1L	TF binding region
ENSG00000263530	Chromatin interaction
ENSG00000231294	Chromatin interaction
ENSG00000144445	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10183204	1.00[AMR][1000 genomes]
rs10192256	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10200097	1.00[AMR][1000 genomes]
rs10210462	1.00[AMR][1000 genomes]
rs11885370	1.00[AMR][1000 genomes]
rs11888495	1.00[AMR][1000 genomes]
rs11888689	1.00[AMR][1000 genomes]
rs11892155	1.00[AMR][1000 genomes]
rs11897454	1.00[AMR][1000 genomes]
rs11898086	1.00[AMR][1000 genomes]
rs11898587	1.00[AMR][1000 genomes]
rs11899048	1.00[AMR][1000 genomes]
rs11901653	1.00[AMR][1000 genomes]
rs13395167	1.00[AMR][1000 genomes]
rs13405054	1.00[AMR][1000 genomes]
rs13414717	1.00[AMR][1000 genomes]
rs28668171	1.00[AMR][1000 genomes]
rs35264561	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431969	chr2:210682494-211074494	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	esv1795338	chr2:210758078-211098113	Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv1802749	chr2:210905194-211255611	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv875766	chr2:210996084-211033176	Enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211002200-211031400	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr2:211006200-211032000	Weak transcription	HUVEC	blood vessel
3	chr2:211008000-211032000	Weak transcription	HSMM	muscle
4	chr2:211008800-211027200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr2:211009200-211027200	Weak transcription	Primary B cells from peripheral blood	blood
6	chr2:211010200-211034600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr2:211010400-211027200	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr2:211010800-211023800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:211010800-211027000	Weak transcription	Small Intestine	intestine
10	chr2:211010800-211030800	Weak transcription	Esophagus	oesophagus
11	chr2:211010800-211033200	Weak transcription	Fetal Brain Male	brain
12	chr2:211010800-211034400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr2:211011000-211027000	Weak transcription	Gastric	stomach
14	chr2:211011000-211027200	Weak transcription	Brain Angular Gyrus	brain
15	chr2:211011000-211027400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr2:211011000-211031200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:211011000-211032800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:211011000-211032800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr2:211011000-211033800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr2:211011000-211033800	Weak transcription	Ovary	ovary
21	chr2:211011200-211027400	Weak transcription	Osteobl	bone
22	chr2:211011800-211027400	Weak transcription	NHDF-Ad	bronchial
23	chr2:211012000-211027200	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr2:211012400-211027000	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr2:211013200-211034000	Weak transcription	Primary B cells from cord blood	blood
26	chr2:211015600-211033800	Weak transcription	Fetal Stomach	stomach
27	chr2:211016200-211027200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr2:211016600-211031400	Weak transcription	Hela-S3	cervix
29	chr2:211018600-211033000	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr2:211018800-211027200	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr2:211018800-211027200	Weak transcription	Stomach Mucosa	stomach
32	chr2:211018800-211027400	Weak transcription	HepG2	liver
33	chr2:211018800-211034200	Weak transcription	Duodenum Mucosa	Duodenum
34	chr2:211019000-211027000	Weak transcription	Primary hematopoietic stem cells	blood
35	chr2:211019000-211027400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr2:211019000-211027400	Weak transcription	Colon Smooth Muscle	Colon
37	chr2:211019000-211031800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr2:211019000-211033200	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr2:211019200-211023800	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr2:211019200-211027200	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr2:211019200-211027200	Weak transcription	Fetal Kidney	kidney
42	chr2:211019200-211027200	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr2:211019200-211027400	Weak transcription	Primary T cells from cord blood	blood
44	chr2:211019200-211027600	Weak transcription	Brain Hippocampus Middle	brain
45	chr2:211019200-211031200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr2:211019200-211031200	Weak transcription	Brain Substantia Nigra	brain
47	chr2:211019200-211032000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr2:211019200-211032800	Weak transcription	Stomach Smooth Muscle	stomach
49	chr2:211019200-211033000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr2:211019200-211033800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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