Variant report

Variant	rs694936
Chromosome Location	chr3:101587793-101587794
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:101587093..101588701-chr3:101591968..101594547,2	MCF-7	breast:
2	chr3:101566766..101570360-chr3:101584530..101589455,9	K562	blood:
3	chr3:101586222..101589351-chr3:101592319..101595732,4	K562	blood:
4	chr3:101586222..101589351-chr3:101592520..101595732,3	K562	blood:
5	chr3:101566766..101570360-chr3:101585005..101589455,7	K562	blood:
6	chr3:101571381..101573933-chr3:101586598..101588197,2	K562	blood:

Variant related genes	Relation type
ENSG00000144802	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs14134	0.85[CHD][hapmap];0.80[ASN][1000 genomes]
rs1707608	0.84[JPT][hapmap]
rs2926538	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2929922	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs599849	0.80[ASN][1000 genomes]
rs601225	0.80[ASN][1000 genomes]
rs617688	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs622122	0.80[ASN][1000 genomes]
rs641432	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs647556	0.82[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs650567	0.82[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.85[GIH][hapmap];0.87[JPT][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs651907	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs654102	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs662792	0.93[CEU][hapmap];0.95[MEX][hapmap];0.82[TSI][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs665211	0.92[CEU][hapmap];0.95[MEX][hapmap];0.82[TSI][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs675779	0.82[CEU][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs677011	0.81[CHD][hapmap]
rs678354	0.81[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv497784	chr3:101315009-102092989	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv997407	chr3:101384031-101611391	Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	nsv536675	chr3:101384031-101611391	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS 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 target site	76 gene(s)	inside rSNPs	diseases
4	esv3351469	chr3:101511702-101866448	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	nsv1010762	chr3:101584836-101803821	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs694936	NFKBIZ	cis	multi-tissue	Pritchard

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:101570400-101598400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:101579400-101587800	Weak transcription	Brain Hippocampus Middle	brain
3	chr3:101579400-101588600	Weak transcription	Esophagus	oesophagus
4	chr3:101580800-101588600	Weak transcription	NHDF-Ad	bronchial
5	chr3:101583400-101588800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr3:101583400-101598000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr3:101584600-101588800	Enhancers	Fetal Intestine Large	intestine
8	chr3:101585200-101589200	Enhancers	Hela-S3	cervix
9	chr3:101585800-101592200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr3:101586000-101588000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr3:101586000-101588000	Enhancers	Fetal Heart	heart
12	chr3:101586200-101588200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr3:101586200-101588200	Enhancers	Stomach Mucosa	stomach
14	chr3:101586400-101588000	Enhancers	HepG2	liver
15	chr3:101586400-101588400	Enhancers	Fetal Intestine Small	intestine
16	chr3:101586400-101588600	Enhancers	Pancreas	Pancrea
17	chr3:101586600-101587800	Enhancers	Right Atrium	heart
18	chr3:101586600-101588600	Enhancers	Primary B cells from peripheral blood	blood
19	chr3:101586600-101589600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr3:101586800-101589000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr3:101586800-101589800	Weak transcription	Small Intestine	intestine
22	chr3:101587000-101587800	Flanking Active TSS	A549	lung
23	chr3:101587000-101588000	Enhancers	NH-A	brain
24	chr3:101587000-101588000	Enhancers	Osteobl	bone
25	chr3:101587000-101588800	Enhancers	K562	blood
26	chr3:101587200-101588000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr3:101587200-101588200	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr3:101587200-101588400	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr3:101587200-101589000	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr3:101587200-101589200	Enhancers	HUVEC	blood vessel
31	chr3:101587200-101589800	Enhancers	Muscle Satellite Cultured Cells	--
32	chr3:101587200-101589800	Enhancers	NHEK	skin
33	chr3:101587400-101587800	Flanking Active TSS	Liver	Liver
34	chr3:101587400-101587800	Flanking Active TSS	Duodenum Mucosa	Duodenum
35	chr3:101587400-101587800	Enhancers	Fetal Lung	lung
36	chr3:101587400-101587800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
37	chr3:101587400-101588000	Enhancers	HMEC	breast
38	chr3:101587400-101588200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr3:101587400-101588200	Enhancers	Primary B cells from cord blood	blood
40	chr3:101587400-101589200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr3:101587400-101589600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr3:101587600-101587800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr3:101587600-101587800	Enhancers	Aorta	Aorta
44	chr3:101587600-101587800	Enhancers	Fetal Muscle Leg	muscle
45	chr3:101587600-101587800	Enhancers	Placenta Amnion	Placenta Amnion
46	chr3:101587600-101587800	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr3:101587600-101587800	Enhancers	GM12878-XiMat	blood
48	chr3:101587600-101588000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr3:101587600-101588000	Enhancers	Placenta	Placenta
50	chr3:101587600-101588000	Enhancers	Gastric	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links