Variant report

Variant	rs2168798
Chromosome Location	chr16:81573632-81573633
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81571814..81573956-chr16:81577277..81579755,3	K562	blood:
2	chr16:81572067..81574321-chr16:81585203..81586981,2	K562	blood:
3	chr16:81572606..81575299-chr16:81599746..81602718,2	MCF-7	breast:
4	chr16:81477024..81479493-chr16:81572389..81574528,2	MCF-7	breast:
5	chr16:81568196..81570082-chr16:81573508..81576113,2	K562	blood:

Variant related genes	Relation type
ENSG00000153815	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1000454	0.81[CEU][hapmap]
rs1000455	0.84[CEU][hapmap]
rs10871416	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11639652	0.84[CEU][hapmap]
rs11644696	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12448684	0.89[CEU][hapmap];0.82[CHB][hapmap];0.83[GIH][hapmap];0.91[MEX][hapmap];0.83[EUR][1000 genomes]
rs12925668	0.88[EUR][1000 genomes]
rs12928588	0.80[AMR][1000 genomes]
rs12931651	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12932755	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12932885	0.96[CEU][hapmap];0.82[CHB][hapmap];0.83[GIH][hapmap];0.91[MEX][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12933858	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34485103	0.86[EUR][1000 genomes]
rs4889333	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4889334	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6564885	0.88[CEU][hapmap]
rs7205651	0.84[GIH][hapmap]
rs876673	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.95[TSI][hapmap];0.94[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs881214	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs898967	0.88[CEU][hapmap];0.90[JPT][hapmap]
rs9925488	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.94[YRI][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]

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	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv1058519	chr16:81177767-81735333	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
4	nsv1057791	chr16:81515036-81644651	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
5	nsv542993	chr16:81515036-81644651	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
6	nsv457576	chr16:81525637-81579433	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
7	nsv573360	chr16:81525637-81579433	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1062659	chr16:81547280-81668786	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81555400-81576800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr16:81556000-81590000	Weak transcription	Dnd41	blood
3	chr16:81556200-81577600	Weak transcription	GM12878-XiMat	blood
4	chr16:81560600-81584800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr16:81561000-81576400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr16:81561000-81576800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr16:81561400-81575000	Weak transcription	HUVEC	blood vessel
8	chr16:81561400-81576200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr16:81561400-81576600	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr16:81561600-81576600	Weak transcription	Right Ventricle	heart
11	chr16:81561600-81577600	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr16:81562000-81578000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr16:81563600-81578000	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr16:81565200-81576400	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr16:81565200-81588200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr16:81566600-81584600	Weak transcription	Fetal Brain Female	brain
17	chr16:81567200-81576600	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr16:81567800-81576000	Weak transcription	NHLF	lung
19	chr16:81567800-81576600	Weak transcription	Gastric	stomach
20	chr16:81568000-81576600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr16:81568000-81582000	Genic enhancers	A549	lung
22	chr16:81569800-81578000	Weak transcription	HMEC	breast
23	chr16:81570000-81575000	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr16:81570000-81575800	Genic enhancers	HepG2	liver
25	chr16:81570400-81576800	Weak transcription	Primary T cells from cord blood	blood
26	chr16:81570400-81577600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr16:81570600-81577600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr16:81570800-81576000	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr16:81570800-81576400	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr16:81570800-81576600	Weak transcription	Primary B cells from peripheral blood	blood
31	chr16:81570800-81594200	Weak transcription	Hela-S3	cervix
32	chr16:81571400-81573800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr16:81571400-81573800	Enhancers	NHDF-Ad	bronchial
34	chr16:81571400-81574200	Strong transcription	Primary B cells from cord blood	blood
35	chr16:81571400-81574400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr16:81571600-81573800	Enhancers	H1 Cell Line	embryonic stem cell
37	chr16:81571600-81573800	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr16:81571600-81573800	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr16:81571600-81573800	Enhancers	Fetal Kidney	kidney
40	chr16:81571600-81574000	Enhancers	Liver	Liver
41	chr16:81571800-81574400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr16:81572000-81573800	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr16:81572000-81575000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr16:81572000-81575000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr16:81572200-81573800	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr16:81572200-81575600	Weak transcription	K562	blood
47	chr16:81572400-81576600	Weak transcription	Small Intestine	intestine
48	chr16:81572400-81577800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr16:81572600-81574000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr16:81572600-81574000	Enhancers	Fetal Muscle Trunk	muscle

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