Variant report

Variant	rs2274730
Chromosome Location	chr6:33422545-33422546
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:33381847..33384907-chr6:33420236..33423106,3	MCF-7	breast:
2	chr6:33422362..33424306-chr6:33561012..33562772,2	K562	blood:
3	chr6:33238561..33240428-chr6:33421904..33423704,2	K562	blood:
4	chr6:33385453..33389637-chr6:33419628..33424957,5	MCF-7	breast:
5	chr6:33377039..33379614-chr6:33421781..33424452,2	K562	blood:
6	chr6:33392449..33400629-chr6:33419013..33424035,12	MCF-7	breast:
7	chr6:33384548..33387250-chr6:33422114..33424496,2	K562	blood:
8	chr6:33395899..33401993-chr6:33420102..33423796,11	MCF-7	breast:
9	chr6:33245204..33246812-chr6:33420469..33423462,2	MCF-7	breast:
10	chr6:33406190..33414491-chr6:33419287..33424467,10	MCF-7	breast:
11	chr6:33264374..33267492-chr6:33422246..33424652,3	K562	blood:
12	chr6:33398677..33403495-chr6:33419995..33423723,6	K562	blood:
13	chr6:33358950..33361251-chr6:33421997..33423819,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000197283	Chromatin interaction
ENSG00000237649	Chromatin interaction
ENSG00000237441	Chromatin interaction
ENSG00000112511	Chromatin interaction
ENSG00000197251	Chromatin interaction
ENSG00000231500	Chromatin interaction
ENSG00000223501	Chromatin interaction
ENSG00000235863	Chromatin interaction
ENSG00000112514	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10807124	0.87[AMR][1000 genomes]
rs11757273	0.92[ASN][1000 genomes]
rs12204193	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1613451	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1755045	0.85[ASN][1000 genomes]
rs1755046	0.82[ASN][1000 genomes]
rs1755047	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1755049	0.81[ASN][1000 genomes]
rs2247385	0.81[ASN][1000 genomes]
rs2480487	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2772373	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2772375	0.84[ASN][1000 genomes]
rs2772376	0.81[ASN][1000 genomes]
rs2772387	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2772390	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2772391	0.83[ASN][1000 genomes]
rs2772392	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3117320	0.89[ASN][1000 genomes]
rs3130007	0.84[ASN][1000 genomes]
rs3130015	0.83[ASN][1000 genomes]
rs3130025	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs371005	0.89[ASN][1000 genomes]
rs376006	0.90[AFR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs420714	0.83[ASN][1000 genomes]
rs442745	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs453590	0.81[ASN][1000 genomes]
rs456993	0.90[AFR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs459927	0.90[AFR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs461887	0.90[AFR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs461964	0.87[ASN][1000 genomes]
rs4620113	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs465223	0.87[ASN][1000 genomes]
rs465474	0.90[AFR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs465506	0.87[ASN][1000 genomes]
rs465877	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs467065	0.82[ASN][1000 genomes]
rs4713625	0.83[ASN][1000 genomes]
rs66840884	0.91[ASN][1000 genomes]
rs9357159	0.91[ASN][1000 genomes]
rs9366822	0.81[ASN][1000 genomes]
rs9380355	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9380365	0.81[CHB][hapmap]
rs9394145	0.85[AMR][1000 genomes]
rs9461856	0.90[ASN][1000 genomes]

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	nsv830637	chr6:33329365-33510704	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv602832	chr6:33382241-33520221	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv3341480	chr6:33418074-33422572	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
4	esv3507170	chr6:33418124-33423322	Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
5	esv3507171	chr6:33418124-33423322	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2274730	TAPBP	Cis_1M	lymphoblastoid	RTeQTL
rs2274730	TAPBP	cis	Artery Tibial	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33420800-33422800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:33421000-33422800	Active TSS	Primary T cells from cord blood	blood
3	chr6:33421000-33422800	Active TSS	Hela-S3	cervix
4	chr6:33421000-33422800	Active TSS	NH-A	brain
5	chr6:33421200-33422800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr6:33421200-33422800	Active TSS	Right Ventricle	heart
7	chr6:33421200-33422800	Active TSS	Sigmoid Colon	Sigmoid Colon
8	chr6:33421200-33422800	Active TSS	HMEC	breast
9	chr6:33421200-33422800	Active TSS	HSMM	muscle
10	chr6:33421200-33422800	Active TSS	NHEK	skin
11	chr6:33421200-33423000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr6:33421200-33423000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:33421200-33423000	Active TSS	Muscle Satellite Cultured Cells	--
14	chr6:33421200-33423200	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr6:33421400-33422600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr6:33421400-33422600	Active TSS	Colonic Mucosa	Colon
17	chr6:33421400-33422600	Active TSS	Fetal Muscle Trunk	muscle
18	chr6:33421400-33422600	Active TSS	Placenta Amnion	Placenta Amnion
19	chr6:33421400-33422600	Active TSS	GM12878-XiMat	blood
20	chr6:33421400-33422800	Active TSS	H1 Cell Line	embryonic stem cell
21	chr6:33421400-33422800	Active TSS	Fetal Brain Female	brain
22	chr6:33421400-33422800	Active TSS	Gastric	stomach
23	chr6:33421400-33422800	Active TSS	Left Ventricle	heart
24	chr6:33421400-33422800	Active TSS	Lung	lung
25	chr6:33421400-33422800	Active TSS	Ovary	ovary
26	chr6:33421400-33422800	Active TSS	NHLF	lung
27	chr6:33421400-33423000	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr6:33421400-33423000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
29	chr6:33421400-33423000	Active TSS	Fetal Intestine Large	intestine
30	chr6:33421400-33423200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr6:33421400-33423200	Active TSS	H9 Cell Line	embryonic stem cell
32	chr6:33421400-33423200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr6:33421400-33423200	Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr6:33421400-33423200	Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr6:33421400-33423200	Active TSS	Fetal Kidney	kidney
36	chr6:33421400-33423200	Active TSS	A549	lung
37	chr6:33421400-33423400	Active TSS	NHDF-Ad	bronchial
38	chr6:33421600-33422600	Active TSS	Primary monocytes fromperipheralblood	blood
39	chr6:33421600-33422600	Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr6:33421600-33422600	Active TSS	Colon Smooth Muscle	Colon
41	chr6:33421600-33422600	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr6:33421600-33422800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr6:33421600-33422800	Active TSS	Aorta	Aorta
44	chr6:33421600-33422800	Active TSS	Esophagus	oesophagus
45	chr6:33421600-33422800	Active TSS	Fetal Heart	heart
46	chr6:33421600-33422800	Active TSS	Rectal Smooth Muscle	rectum
47	chr6:33421600-33422800	Active TSS	Small Intestine	intestine
48	chr6:33421600-33423000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr6:33421600-33423000	Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr6:33421600-33423000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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