Variant report

Variant	rs28498893
Chromosome Location	chr17:37887534-37887535
allele	C/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	chr17:37781012..37783798-chr17:37885303..37888164,4	K562	blood:
2	chr17:37860742..37863626-chr17:37884816..37888176,3	MCF-7	breast:
3	chr17:37836650..37841918-chr17:37884817..37888421,5	K562	blood:
4	chr17:37821804..37826261-chr17:37885454..37888153,4	K562	blood:
5	chr17:37884905..37887693-chr17:37894356..37897202,3	MCF-7	breast:
6	chr17:37855311..37858072-chr17:37885359..37888218,2	K562	blood:
7	chr17:37884020..37887628-chr17:37894260..37898735,4	K562	blood:
8	chr17:37885346..37888543-chr17:37891725..37895938,5	MCF-7	breast:
9	chr17:37885255..37888241-chr17:38082917..38084897,2	K562	blood:
10	chr17:37861008..37863729-chr17:37884662..37888113,4	MCF-7	breast:
11	chr17:37879887..37888300-chr17:37891591..37897811,12	K562	blood:
12	chr17:37792754..37795170-chr17:37883979..37887971,4	K562	blood:
13	chr17:37871866..37874609-chr17:37884182..37887614,4	MCF-7	breast:
14	chr17:37773896..37776239-chr17:37886682..37888820,2	MCF-7	breast:
15	chr17:37792734..37794533-chr17:37886471..37888127,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000214546	Chromatin interaction
ENSG00000141736	Chromatin interaction
ENSG00000141744	Chromatin interaction
ENSG00000161395	Chromatin interaction
ENSG00000131771	Chromatin interaction
ENSG00000172057	Chromatin interaction
ENSG00000264968	Chromatin interaction
ENSG00000131748	Chromatin interaction
ENSG00000141738	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs13341681	1.00[AMR][1000 genomes]
rs13380812	1.00[AMR][1000 genomes]
rs28407584	1.00[AMR][1000 genomes]
rs28409251	1.00[AMR][1000 genomes]
rs28432878	1.00[AMR][1000 genomes]
rs28464000	1.00[AMR][1000 genomes]
rs28494476	1.00[AMR][1000 genomes]
rs28505218	1.00[AMR][1000 genomes]
rs28627663	1.00[AMR][1000 genomes]
rs28661251	1.00[AMR][1000 genomes]
rs28673180	1.00[AMR][1000 genomes]
rs28714172	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28882824	1.00[AMR][1000 genomes]
rs61737968	1.00[AMR][1000 genomes]
rs9890508	1.00[AMR][1000 genomes]
rs9890819	1.00[AMR][1000 genomes]
rs9893628	1.00[AMR][1000 genomes]
rs9893933	1.00[AMR][1000 genomes]
rs9895237	1.00[AMR][1000 genomes]
rs9896961	1.00[AMR][1000 genomes]
rs9897451	1.00[AMR][1000 genomes]
rs9897847	1.00[AMR][1000 genomes]
rs9899977	1.00[AMR][1000 genomes]
rs9900885	1.00[AMR][1000 genomes]
rs9911163	1.00[AMR][1000 genomes]
rs9913746	1.00[AMR][1000 genomes]
rs9914556	1.00[AMR][1000 genomes]
rs9916301	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv908207	chr17:37709422-37922259	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv1056234	chr17:37862605-37909988	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv908219	chr17:37880265-37917633	Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37887000-37887600	Weak transcription	Spleen	Spleen
2	chr17:37887200-37887600	Enhancers	Primary T cells fromperipheralblood	blood
3	chr17:37887200-37887600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr17:37887200-37887800	Enhancers	Placenta	Placenta
5	chr17:37887200-37887800	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr17:37887200-37889200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr17:37887200-37891800	Weak transcription	Lung	lung
8	chr17:37887200-37892000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr17:37887200-37892000	Weak transcription	Fetal Intestine Small	intestine
10	chr17:37887200-37892000	Weak transcription	Pancreas	Pancrea
11	chr17:37887200-37892200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr17:37887200-37892200	Weak transcription	Stomach Mucosa	stomach
13	chr17:37887200-37892400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr17:37887200-37892400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr17:37887200-37892400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr17:37887200-37893600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr17:37887200-37893800	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr17:37887200-37893800	Weak transcription	HMEC	breast
19	chr17:37887200-37894200	Weak transcription	Small Intestine	intestine
20	chr17:37887400-37887800	Active TSS	Primary neutrophils fromperipheralblood	blood
21	chr17:37887400-37887800	Enhancers	HSMMtube	muscle
22	chr17:37887400-37888000	Enhancers	Hela-S3	cervix
23	chr17:37887400-37892400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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