Variant report

Variant	rs754474
Chromosome Location	chr17:44953856-44953857
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:44953465..44954478-chr17:45017899..45018883,3	MCF-7	breast:
2	chr17:44953449..44954379-chr17:45019200..45020186,2	MCF-7	breast:
3	chr17:44928363..44929475-chr17:44953531..44954044,3	MCF-7	breast:
4	chr17:44952111..44955510-chr17:44998315..45000785,3	MCF-7	breast:
5	chr17:37392769..37394395-chr17:44952247..44954407,2	MCF-7	breast:
6	chr17:44912933..44913709-chr17:44953555..44954392,2	MCF-7	breast:
7	chr17:37391623..37392576-chr17:44953513..44954421,4	MCF-7	breast:
8	chr17:44944687..44947867-chr17:44952992..44955738,3	K562	blood:
9	chr17:44945226..44947867-chr17:44952992..44954804,2	K562	blood:
10	chr17:44928681..44929218-chr17:44953515..44954108,2	MCF-7	breast:
11	chr17:44953038..44954643-chr17:44998706..45000616,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000108433	Chromatin interaction
ENSG00000210709	Chromatin interaction
ENSG00000158955	Chromatin interaction
ENSG00000262633	Chromatin interaction
ENSG00000261886	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10491148	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs11871306	1.00[CEU][hapmap];0.87[YRI][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs1638450	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16941271	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs16941273	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs16941300	1.00[CEU][hapmap]
rs16941306	1.00[CEU][hapmap]
rs16941312	1.00[CEU][hapmap]
rs16941317	1.00[CEU][hapmap]
rs16941318	1.00[CEU][hapmap]
rs16941324	1.00[CEU][hapmap]
rs16941390	1.00[CEU][hapmap]
rs197910	1.00[EUR][1000 genomes]
rs197931	1.00[EUR][1000 genomes]
rs197935	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs197937	1.00[EUR][1000 genomes]
rs197944	1.00[EUR][1000 genomes]
rs7212691	0.90[EUR][1000 genomes]
rs73985103	0.81[EUR][1000 genomes]
rs8082211	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3492820	chr17:44174959-45161556	Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3492821	chr17:44174959-45161556	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	esv3502492	chr17:44305975-45169159	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	esv3502493	chr17:44305975-45169159	Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	nsv531823	chr17:44485771-45067769	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv908562	chr17:44828931-45102413	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv949295	chr17:44836653-45080757	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
8	nsv428672	chr17:44872446-45023425	Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:44936000-44956000	Weak transcription	Right Atrium	heart
2	chr17:44950800-44957000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr17:44952200-44954800	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr17:44952400-44956200	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr17:44952400-44956200	Enhancers	Pancreas	Pancrea
6	chr17:44952400-44956800	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr17:44952800-44954200	Enhancers	Duodenum Mucosa	Duodenum
8	chr17:44952800-44955200	Weak transcription	Fetal Muscle Leg	muscle
9	chr17:44953000-44954800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr17:44953400-44954800	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr17:44953400-44955000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr17:44953400-44955200	Enhancers	Esophagus	oesophagus
13	chr17:44953600-44954000	Active TSS	Colonic Mucosa	Colon
14	chr17:44953600-44954000	Enhancers	Fetal Intestine Large	intestine
15	chr17:44953600-44954000	Bivalent Enhancer	HepG2	liver
16	chr17:44953600-44954200	Enhancers	Fetal Intestine Small	intestine
17	chr17:44953600-44954800	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr17:44953600-44955000	Enhancers	Gastric	stomach
19	chr17:44953600-44956800	Enhancers	Placenta	Placenta
20	chr17:44953800-44954200	Enhancers	Liver	Liver
21	chr17:44953800-44954200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr17:44953800-44956600	Enhancers	Spleen	Spleen

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