Variant report

Variant	rs4669472
Chromosome Location	chr2:9995671-9995672
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:9995313..9997002-chr2:10028213..10029998,2	MCF-7	breast:
2	chr2:9990181..9994001-chr2:9995377..9997163,3	MCF-7	breast:
3	chr2:9980973..9983843-chr2:9994187..9996766,3	K562	blood:

Variant related genes	Relation type
ENSG00000115750	Chromatin interaction

Extended variants
information (count: 103 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs1014509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1036056	1.00[ASN][1000 genomes]
rs1036057	1.00[ASN][1000 genomes]
rs1036058	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10495575	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1062160	0.81[ASN][1000 genomes]
rs10929617	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10929618	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1132838	0.91[ASN][1000 genomes]
rs12468582	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12470216	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12476490	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12478489	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12611655	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12613533	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12613568	0.93[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs12617615	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12619769	1.00[ASN][1000 genomes]
rs12621415	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12622420	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12623017	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12623213	0.83[EUR][1000 genomes]
rs12623372	0.82[ASN][1000 genomes]
rs1367386	0.92[ASN][1000 genomes]
rs1469542	0.98[ASN][1000 genomes]
rs1469543	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1469544	0.98[ASN][1000 genomes]
rs1469545	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1469546	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1473962	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16867195	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16867196	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16867211	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16867215	0.94[ASN][1000 genomes]
rs16867242	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1835427	0.91[ASN][1000 genomes]
rs1967517	0.98[ASN][1000 genomes]
rs1967518	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2280150	0.92[ASN][1000 genomes]
rs2280151	0.92[ASN][1000 genomes]
rs4143791	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4143792	0.98[ASN][1000 genomes]
rs4143793	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs452480	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4610025	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4627538	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4669470	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4669471	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4669473	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4669475	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4669476	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4669477	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4669478	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4669479	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4669481	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4669484	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4669485	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4669486	0.92[ASN][1000 genomes]
rs4669488	0.92[ASN][1000 genomes]
rs4669501	0.81[ASN][1000 genomes]
rs59288259	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62127129	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62127130	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62127131	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62127132	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62127133	0.98[ASN][1000 genomes]
rs62127134	0.98[ASN][1000 genomes]
rs62127136	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62127137	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62127138	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62127140	0.95[ASN][1000 genomes]
rs62127143	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62127144	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62127145	0.94[ASN][1000 genomes]
rs62127146	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62127463	0.91[ASN][1000 genomes]
rs62127466	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62127471	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62127563	1.00[ASN][1000 genomes]
rs62127564	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62127565	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62129896	0.98[ASN][1000 genomes]
rs6707551	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6743707	0.87[AFR][1000 genomes]
rs6743866	0.87[AFR][1000 genomes]
rs6753379	0.87[AFR][1000 genomes]
rs718255	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs718256	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72782621	1.00[ASN][1000 genomes]
rs72782635	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7559653	0.83[AFR][1000 genomes]
rs7563385	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7579559	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7602449	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7608055	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1003026	chr2:9854939-10012516	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv1013969	chr2:9888703-10023951	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv948591	chr2:9922257-10141191	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv873629	chr2:9949464-10016627	Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
5	nsv873630	chr2:9953949-10030024	Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
6	nsv873631	chr2:9975557-10059770	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
7	esv1843231	chr2:9979766-10141191	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv580960	chr2:9993451-10066694	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4669472	TAF1B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9984800-9997600	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr2:9984800-9998400	Weak transcription	Pancreas	Pancrea
3	chr2:9985000-10000800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr2:9985200-9997200	Weak transcription	Fetal Heart	heart
5	chr2:9985600-9997200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:9985800-9997000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:9986200-9997800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr2:9986600-9996200	Strong transcription	A549	lung
9	chr2:9987200-10038400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr2:9987400-9997400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:9987400-10003200	Weak transcription	Stomach Mucosa	stomach
12	chr2:9987600-9997000	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr2:9987600-9998400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:9987800-9996000	Strong transcription	Dnd41	blood
15	chr2:9989000-9995800	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr2:9989000-9997200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr2:9989000-9997200	Strong transcription	K562	blood
18	chr2:9989000-9997800	Strong transcription	Primary B cells from peripheral blood	blood
19	chr2:9989000-9997800	Strong transcription	HUVEC	blood vessel
20	chr2:9989000-9997800	Strong transcription	NH-A	brain
21	chr2:9989200-9997000	Strong transcription	HepG2	liver
22	chr2:9989200-9997600	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr2:9989200-9998200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:9989400-9996000	Strong transcription	Fetal Brain Female	brain
25	chr2:9989400-9996200	Strong transcription	GM12878-XiMat	blood
26	chr2:9989400-9997600	Strong transcription	NHDF-Ad	bronchial
27	chr2:9989400-9997800	Strong transcription	Fetal Thymus	thymus
28	chr2:9989400-9998200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr2:9989400-9998400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr2:9989400-9999200	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr2:9989400-10000600	Strong transcription	Muscle Satellite Cultured Cells	--
32	chr2:9989400-10001000	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr2:9989600-9996400	Strong transcription	NHEK	skin
34	chr2:9989600-9996600	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr2:9989600-9996600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr2:9989600-9997400	Strong transcription	HSMM	muscle
37	chr2:9989600-9997600	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr2:9989600-9997800	Strong transcription	Liver	Liver
39	chr2:9989600-9998400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr2:9989600-9998400	Strong transcription	Adipose Nuclei	Adipose
41	chr2:9989600-9999200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
42	chr2:9989600-9999400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr2:9989600-10001200	Strong transcription	Osteobl	bone
44	chr2:9989800-9996800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr2:9989800-9997400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr2:9989800-9997800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr2:9989800-9998200	Strong transcription	Duodenum Mucosa	Duodenum
48	chr2:9989800-9999200	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr2:9990000-9995800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
50	chr2:9990000-9996400	Strong transcription	Brain Germinal Matrix	brain

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