Variant report

Variant	rs17655249
Chromosome Location	chr4:48191491-48191492
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10938521	1.00[YRI][hapmap]
rs11931912	0.85[CEU][hapmap];0.90[CHB][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.84[LWK][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap]
rs12647931	1.00[YRI][hapmap]
rs13151608	1.00[YRI][hapmap]
rs17655303	1.00[YRI][hapmap]
rs1961973	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3805180	0.85[AFR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4235153	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs4312730	0.82[CHB][hapmap];0.86[CHD][hapmap]
rs4446283	0.90[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap]
rs45598338	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4694887	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs4695355	0.81[CHB][hapmap];0.86[CHD][hapmap]
rs62309328	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62309331	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62309332	0.96[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs6845258	0.82[CHB][hapmap];0.84[CHD][hapmap]

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	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv482316	chr4:48151953-48338746	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv1006853	chr4:48164958-48196335	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv2763359	chr4:48189710-48290233	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48175800-48191600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:48178000-48192400	Weak transcription	Primary B cells from peripheral blood	blood
3	chr4:48183200-48194800	Weak transcription	Fetal Thymus	thymus
4	chr4:48185600-48192400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr4:48185800-48197000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr4:48186000-48194800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr4:48188600-48196000	Weak transcription	Lung	lung
8	chr4:48190200-48195200	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr4:48190200-48195800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr4:48190400-48191800	Weak transcription	K562	blood
11	chr4:48190400-48194800	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr4:48190400-48195400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr4:48190400-48195400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr4:48190400-48197400	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr4:48190400-48222000	Weak transcription	Fetal Intestine Small	intestine
16	chr4:48190600-48207200	Weak transcription	Spleen	Spleen
17	chr4:48191200-48191800	Genic enhancers	GM12878-XiMat	blood
18	chr4:48191400-48197400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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