Variant report

Variant	rs4665163
Chromosome Location	chr2:152147365-152147366
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr2:152146002-152147365	MCF10A-Er-Src	breast:	n/a	chr2:152146448-152146459
2	ZNF384	chr2:152144790-152147390	K562	blood:	n/a	n/a
3	POLR2A	chr2:152147255-152147704	K562	blood:	n/a	n/a
4	POLR2A	chr2:152143888-152147400	GM12891	blood:	n/a	n/a
5	STAT1	chr2:152145172-152147477	Hela-S3	cervix:	n/a	chr2:152146154-152146165 chr2:152145825-152145836 chr2:152146448-152146459
6	ZNF384	chr2:152145612-152147365	GM12878	blood:	n/a	n/a
7	MAZ	chr2:152147286-152147405	HepG2	liver:	n/a	n/a
8	POLR2A	chr2:152143961-152147412	K562	blood:	n/a	n/a
9	MAZ	chr2:152145727-152147444	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:152146753..152148649-chr2:152552733..152554484,2	MCF-7	breast:
2	chr2:152116868..152120610-chr2:152144685..152147660,4	MCF-7	breast:
3	chr2:152145011..152148288-chr2:152265460..152267609,4	MCF-7	breast:
4	chr2:152117973..152120026-chr2:152143620..152147532,3	K562	blood:
5	chr2:152144813..152149803-chr2:152261382..152268379,11	K562	blood:
6	chr2:152117804..152120182-chr2:152144785..152147621,2	MCF-7	breast:

Variant related genes	Relation type
NMI	TF binding region
ENSG00000184898	Chromatin interaction
ENSG00000080345	Chromatin interaction

Extended variants
information (count: 111 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs10165186	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10165284	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10184314	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10201139	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10203366	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10207408	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10209942	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10210155	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1023635	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1048135	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11680338	0.81[EUR][1000 genomes]
rs11683487	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11691055	0.81[EUR][1000 genomes]
rs11691217	0.81[EUR][1000 genomes]
rs11692626	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11730	0.85[EUR][1000 genomes]
rs12467046	0.81[EUR][1000 genomes]
rs12471191	0.81[EUR][1000 genomes]
rs12624156	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12693004	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12987765	0.85[EUR][1000 genomes]
rs12998170	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12999396	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13004590	0.85[EUR][1000 genomes]
rs13007728	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13018429	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13020443	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13020769	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13020962	0.87[EUR][1000 genomes]
rs13027425	0.87[EUR][1000 genomes]
rs13030194	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13412131	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13420739	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17798290	0.85[EUR][1000 genomes]
rs2113508	0.84[EUR][1000 genomes]
rs2194492	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2271811	0.82[EUR][1000 genomes]
rs2278090	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28416443	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs289904	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs289905	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs289906	0.84[EUR][1000 genomes]
rs289907	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs289921	0.85[EUR][1000 genomes]
rs289923	0.84[EUR][1000 genomes]
rs34028108	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34092307	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34385951	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34408744	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34433746	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34538548	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34548459	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34639984	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35371567	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35473321	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35613168	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35659175	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35680784	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35791982	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3771882	0.85[EUR][1000 genomes]
rs3845843	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3854012	0.87[EUR][1000 genomes]
rs3856557	0.87[EUR][1000 genomes]
rs4664318	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4664319	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4664320	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4664322	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4665137	0.85[EUR][1000 genomes]
rs4665150	0.87[EUR][1000 genomes]
rs4665167	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4665168	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4665169	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4665170	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55775354	0.81[EUR][1000 genomes]
rs56335263	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56376752	0.81[EUR][1000 genomes]
rs57201382	0.85[EUR][1000 genomes]
rs59247111	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60956116	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6433325	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6433327	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66521733	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6705180	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6707889	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6708382	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6708492	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6713041	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6713190	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67181317	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6723298	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6726634	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6752471	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6752617	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67693192	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67725431	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs67868855	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71350100	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs71415129	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73004003	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7349449	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9287955	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9287956	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693426	chr2:151725792-152295862	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv834417	chr2:151980473-152154950	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1012891	chr2:152019809-152306897	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1013484	chr2:152028515-152473913	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv535983	chr2:152028515-152473913	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv1012139	chr2:152114637-152389516	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv1011339	chr2:152114637-152392940	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv999748	chr2:152135514-152476396	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
9	esv1793984	chr2:152138749-152154163	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4665163	TNFAIP6	cis	Whole Blood	GTEx
rs4665163	NMI	Cis_1M	lymphoblastoid	RTeQTL
rs4665163	TNFAIP6	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152146600-152147400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr2:152146600-152147400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:152146800-152147400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:152146800-152147400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr2:152146800-152147400	Enhancers	Placenta	Placenta
6	chr2:152146800-152147400	Enhancers	Stomach Mucosa	stomach
7	chr2:152146800-152147600	Flanking Active TSS	Dnd41	blood
8	chr2:152146800-152153800	Weak transcription	Lung	lung
9	chr2:152147000-152147400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:152147000-152147400	Enhancers	Primary B cells from peripheral blood	blood
11	chr2:152147000-152147400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
12	chr2:152147000-152147400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr2:152147000-152147400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr2:152147000-152147400	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr2:152147000-152147400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:152147000-152147400	Enhancers	Colonic Mucosa	Colon
17	chr2:152147000-152147400	Enhancers	Esophagus	oesophagus
18	chr2:152147000-152147400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr2:152147000-152147400	Enhancers	Fetal Lung	lung
20	chr2:152147000-152147400	Enhancers	Fetal Muscle Leg	muscle
21	chr2:152147000-152147400	Enhancers	Fetal Thymus	thymus
22	chr2:152147000-152147400	Enhancers	Pancreas	Pancrea
23	chr2:152147000-152147400	Flanking Active TSS	Hela-S3	cervix
24	chr2:152147000-152147400	Enhancers	NHEK	skin
25	chr2:152147000-152147400	Enhancers	NHLF	lung
26	chr2:152147000-152148000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr2:152147000-152148200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr2:152147200-152147400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:152147200-152147400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr2:152147200-152147400	Enhancers	Primary T cells fromperipheralblood	blood
31	chr2:152147200-152147400	Enhancers	Primary hematopoietic stem cells	blood
32	chr2:152147200-152147400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr2:152147200-152147400	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr2:152147200-152147400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
35	chr2:152147200-152147400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr2:152147200-152147400	Enhancers	Adipose Nuclei	Adipose
37	chr2:152147200-152147400	Enhancers	Duodenum Mucosa	Duodenum
38	chr2:152147200-152147400	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr2:152147200-152147400	Flanking Active TSS	GM12878-XiMat	blood
40	chr2:152147200-152147400	Enhancers	HUVEC	blood vessel
41	chr2:152147200-152147400	Enhancers	NHDF-Ad	bronchial
42	chr2:152147200-152147600	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr2:152147200-152147600	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr2:152147200-152147600	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr2:152147200-152147800	Enhancers	Primary B cells from cord blood	blood
46	chr2:152147200-152147800	Enhancers	Liver	Liver
47	chr2:152147200-152148000	Enhancers	Primary T cells from cord blood	blood
48	chr2:152147200-152149200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr2:152147200-152149400	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr2:152147200-152149400	Enhancers	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links