Variant report

Variant	rs28363193
Chromosome Location	chr1:46714816-46714817
allele	A/G
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:46150449..46152661-chr1:46712998..46715388,3	K562	blood:
2	chr1:46663404..46665183-chr1:46712671..46715323,2	K562	blood:
3	chr1:46711860..46716156-chr1:46745879..46749297,4	K562	blood:
4	chr1:46714787..46716755-chr1:46740780..46742319,2	K562	blood:
5	chr1:46709913..46716888-chr1:46765661..46771031,16	K562	blood:
6	chr1:46714716..46717156-chr1:46808597..46812198,3	K562	blood:
7	chr1:46711557..46715191-chr1:46765613..46771974,14	K562	blood:
8	chr1:45195497..45197976-chr1:46711781..46715025,4	K562	blood:
9	chr1:46711469..46715741-chr1:46805142..46807635,4	K562	blood:
10	chr1:46713431..46715188-chr1:46775363..46778279,2	K562	blood:
11	chr1:46711538..46715530-chr1:46724242..46729029,6	K562	blood:
12	chr1:46714432..46717216-chr1:46724349..46725907,2	MCF-7	breast:
13	chr1:46711512..46715195-chr1:46736577..46739816,7	K562	blood:
14	chr1:46711990..46716191-chr1:46804369..46808176,4	K562	blood:
15	chr1:46711512..46718649-chr1:46736779..46744030,9	K562	blood:

No data

Variant related genes	Relation type
ENSG00000085998	Chromatin interaction
ENSG00000085999	Chromatin interaction
ENSG00000117481	Chromatin interaction
ENSG00000173660	Chromatin interaction
ENSG00000132128	Chromatin interaction
ENSG00000159592	Chromatin interaction
ENSG00000200169	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs17102066	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17102179	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2275425	1.00[AMR][1000 genomes]
rs41378047	1.00[AMR][1000 genomes]
rs57959845	1.00[AMR][1000 genomes]
rs57991520	1.00[AMR][1000 genomes]
rs58888694	1.00[AMR][1000 genomes]
rs59006610	1.00[AMR][1000 genomes]
rs59768249	1.00[AMR][1000 genomes]
rs59919818	1.00[AMR][1000 genomes]
rs60411062	1.00[AMR][1000 genomes]
rs61178863	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	nsv1005189	chr1:46335186-46949309	Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv534946	chr1:46335186-46949309	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS 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	72 gene(s)	inside rSNPs	diseases
3	esv2761743	chr1:46339858-47026743	Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv470711	chr1:46660295-46810530	Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46713600-46743600	Weak transcription	Aorta	Aorta
2	chr1:46713800-46715000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:46713800-46715200	Flanking Active TSS	GM12878-XiMat	blood
4	chr1:46713800-46743400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr1:46714000-46715200	Enhancers	Spleen	Spleen
6	chr1:46714000-46715400	Flanking Active TSS	Hela-S3	cervix
7	chr1:46714000-46716000	Transcr. at gene 5' and 3'	Dnd41	blood
8	chr1:46714000-46726000	Weak transcription	Brain Anterior Caudate	brain
9	chr1:46714000-46731800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr1:46714200-46715000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:46714200-46715000	Enhancers	Fetal Intestine Large	intestine
12	chr1:46714200-46715200	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
13	chr1:46714200-46715400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:46714200-46716400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:46714200-46726200	Weak transcription	Brain Angular Gyrus	brain
16	chr1:46714200-46726200	Weak transcription	Esophagus	oesophagus
17	chr1:46714200-46726600	Weak transcription	Primary B cells from cord blood	blood
18	chr1:46714200-46729200	Weak transcription	Placenta	Placenta
19	chr1:46714200-46743200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr1:46714200-46743400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:46714200-46743400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr1:46714200-46743600	Weak transcription	Gastric	stomach
23	chr1:46714200-46743800	Weak transcription	Right Atrium	heart
24	chr1:46714400-46715000	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr1:46714400-46715000	Enhancers	NHLF	lung
26	chr1:46714400-46715200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:46714400-46715200	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr1:46714400-46715200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:46714400-46715200	Enhancers	Fetal Muscle Leg	muscle
30	chr1:46714400-46716000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr1:46714400-46723200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:46714400-46726000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr1:46714400-46727000	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr1:46714400-46736200	Weak transcription	Fetal Lung	lung
35	chr1:46714400-46743400	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr1:46714400-46745400	Weak transcription	Fetal Brain Male	brain
37	chr1:46714400-46745600	Weak transcription	Fetal Kidney	kidney
38	chr1:46714400-46754200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr1:46714600-46715000	Genic enhancers	Primary hematopoietic stem cells	blood
40	chr1:46714600-46715000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr1:46714600-46715000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr1:46714600-46715000	Genic enhancers	Fetal Stomach	stomach
43	chr1:46714600-46715000	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
44	chr1:46714600-46715200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr1:46714600-46715200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr1:46714600-46715200	Flanking Active TSS	Brain Germinal Matrix	brain
47	chr1:46714600-46715200	Enhancers	HUVEC	blood vessel
48	chr1:46714600-46715400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr1:46714600-46715400	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:46714600-46715800	Weak transcription	Primary monocytes fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links