Variant report

Variant	rs7193038
Chromosome Location	chr16:69926134-69926135
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:69756730..69759339-chr16:69925366..69928011,2	K562	blood:
2	chr16:69899911..69901440-chr16:69925824..69928776,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10852461	1.00[CHB][hapmap];0.87[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11075744	0.90[EUR][1000 genomes]
rs12446168	0.84[EUR][1000 genomes]
rs12446197	0.84[EUR][1000 genomes]
rs12598642	0.84[EUR][1000 genomes]
rs12919094	0.83[EUR][1000 genomes]
rs12921407	0.84[EUR][1000 genomes]
rs12926791	0.84[EUR][1000 genomes]
rs12927431	0.81[EUR][1000 genomes]
rs1500337	0.92[EUR][1000 genomes]
rs1566453	0.92[EUR][1000 genomes]
rs1566454	0.92[EUR][1000 genomes]
rs1566455	0.91[EUR][1000 genomes]
rs2102067	0.85[EUR][1000 genomes]
rs2291959	0.87[EUR][1000 genomes]
rs2362641	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2362642	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2937121	0.87[EUR][1000 genomes]
rs3790075	0.87[YRI][hapmap];0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3790076	0.90[EUR][1000 genomes]
rs3790078	0.84[EUR][1000 genomes]
rs3790080	0.92[EUR][1000 genomes]
rs4146819	1.00[JPT][hapmap];0.87[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4296254	0.88[EUR][1000 genomes]
rs4985448	0.92[EUR][1000 genomes]
rs4985449	0.92[EUR][1000 genomes]
rs6499263	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6499268	0.92[EUR][1000 genomes]
rs6499269	0.91[EUR][1000 genomes]
rs6499270	1.00[JPT][hapmap];0.86[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7190013	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7192213	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7196842	1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73572177	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8044876	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8047682	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8048550	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8049373	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8050414	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8051168	0.91[EUR][1000 genomes]
rs8052225	0.90[EUR][1000 genomes]
rs8060478	0.90[EUR][1000 genomes]
rs9940315	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv906823	chr16:69711533-69959223	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1062171	chr16:69854267-70188585	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv542941	chr16:69854267-70188585	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1059249	chr16:69854467-70188446	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
5	nsv542942	chr16:69854467-70188446	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
6	esv2758428	chr16:69855122-70313222	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
7	esv2758652	chr16:69855122-70313222	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Genic enhancers 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 miRNA target site	96 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69893000-69934800	Weak transcription	Hela-S3	cervix
2	chr16:69900800-69933400	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr16:69904200-69951200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr16:69907600-69942600	Weak transcription	Small Intestine	intestine
5	chr16:69908200-69943000	Weak transcription	Right Ventricle	heart
6	chr16:69910600-69937400	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr16:69911400-69970200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr16:69913600-69950400	Weak transcription	A549	lung
9	chr16:69916400-69931600	Strong transcription	Primary B cells from cord blood	blood
10	chr16:69916400-69931600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr16:69917200-69930600	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr16:69919800-69932400	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr16:69920600-69928000	Strong transcription	Primary T cells from cord blood	blood
14	chr16:69921400-69938800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr16:69921600-69932800	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr16:69921800-69926400	Strong transcription	Duodenum Mucosa	Duodenum
17	chr16:69921800-69926600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr16:69923200-69938600	Weak transcription	Ovary	ovary
19	chr16:69923600-69928600	Weak transcription	Liver	Liver
20	chr16:69923600-69942600	Weak transcription	Pancreas	Pancrea
21	chr16:69923600-69944800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr16:69923800-69927800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr16:69923800-69929000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr16:69923800-69929800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr16:69923800-69931400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr16:69923800-69936000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr16:69923800-69936400	Weak transcription	Lung	lung
28	chr16:69923800-69938600	Weak transcription	Aorta	Aorta
29	chr16:69923800-69938600	Weak transcription	K562	blood
30	chr16:69923800-69939800	Weak transcription	HSMM	muscle
31	chr16:69923800-69940400	Weak transcription	HSMMtube	muscle
32	chr16:69923800-69942400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr16:69923800-69949200	Weak transcription	Dnd41	blood
34	chr16:69923800-69951800	Weak transcription	GM12878-XiMat	blood
35	chr16:69924000-69942600	Weak transcription	NHEK	skin
36	chr16:69924200-69926200	Enhancers	Fetal Heart	heart
37	chr16:69924200-69936000	Weak transcription	Primary hematopoietic stem cells	blood
38	chr16:69924400-69927600	Weak transcription	Fetal Intestine Large	intestine
39	chr16:69924400-69936000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr16:69924400-69965000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr16:69924600-69926800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr16:69924600-69934600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr16:69924600-69942600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr16:69924800-69928600	Weak transcription	Osteobl	bone
45	chr16:69924800-69934800	Weak transcription	NH-A	brain
46	chr16:69924800-69940400	Weak transcription	HMEC	breast
47	chr16:69925000-69927000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr16:69925000-69927600	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr16:69925000-69928400	Weak transcription	Fetal Brain Male	brain
50	chr16:69925000-69928600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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