Variant report

Variant	rs16861108
Chromosome Location	chr4:48192185-48192186
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:48190967..48193401-chr4:48269923..48272696,2	K562	blood:
2	chr4:48191298..48193401-chr4:48269923..48271820,2	K562	blood:
3	chr4:48191196..48193426-chr4:48194546..48197180,3	K562	blood:
4	chr4:48190207..48192286-chr4:48193405..48195580,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135605	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10021919	1.00[JPT][hapmap]
rs1159075	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11722540	0.85[ASN][1000 genomes]
rs11942525	0.87[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs16861044	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs16861083	1.00[CEU][hapmap];0.83[GIH][hapmap];1.00[TSI][hapmap]
rs16861106	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17470919	0.93[JPT][hapmap]
rs17471142	0.90[CHD][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs17574399	0.87[CHD][hapmap];1.00[JPT][hapmap]
rs17574585	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs2136504	0.85[ASN][1000 genomes]
rs2456928	0.87[CHD][hapmap];1.00[JPT][hapmap]
rs2661528	0.87[CHB][hapmap]
rs2704401	0.87[CHB][hapmap]
rs28408546	0.84[ASN][1000 genomes]
rs28538414	0.84[ASN][1000 genomes]
rs34585972	0.84[ASN][1000 genomes]
rs3749503	0.87[CHD][hapmap];1.00[JPT][hapmap]
rs3792619	0.93[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4543083	1.00[ASN][1000 genomes]
rs57180932	0.82[EUR][1000 genomes]
rs58651988	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs58770032	0.82[EUR][1000 genomes]
rs60301482	0.82[EUR][1000 genomes]
rs66944352	0.85[ASN][1000 genomes]
rs6814046	0.82[ASN][1000 genomes]
rs6829390	0.81[CHD][hapmap];0.88[JPT][hapmap]
rs73138446	0.85[ASN][1000 genomes]
rs73138447	0.85[ASN][1000 genomes]
rs73138450	0.85[ASN][1000 genomes]
rs73138478	0.85[ASN][1000 genomes]
rs73244498	0.82[EUR][1000 genomes]
rs73244500	0.95[EUR][1000 genomes]
rs73814690	0.85[ASN][1000 genomes]
rs996223	0.87[CHD][hapmap];1.00[JPT][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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48178000-48192400	Weak transcription	Primary B cells from peripheral blood	blood
2	chr4:48183200-48194800	Weak transcription	Fetal Thymus	thymus
3	chr4:48185600-48192400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr4:48185800-48197000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr4:48186000-48194800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr4:48188600-48196000	Weak transcription	Lung	lung
7	chr4:48190200-48195200	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr4:48190200-48195800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr4:48190400-48194800	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr4:48190400-48195400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr4:48190400-48195400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr4:48190400-48197400	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr4:48190400-48222000	Weak transcription	Fetal Intestine Small	intestine
14	chr4:48190600-48207200	Weak transcription	Spleen	Spleen
15	chr4:48191400-48197400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr4:48191800-48192600	Enhancers	K562	blood
17	chr4:48191800-48194000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood

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