Variant report

Variant	rs420714
Chromosome Location	chr6:33364701-33364702
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:33363722..33365688-chr6:33366427..33368839,3	K562	blood:
2	chr6:33362550..33366699-chr6:33373091..33374833,4	MCF-7	breast:
3	chr6:33289755..33292070-chr6:33364060..33366187,2	MCF-7	breast:
4	chr6:33255817..33257369-chr6:33364679..33367095,2	K562	blood:
5	chr6:33363999..33365616-chr6:33421565..33423821,2	K562	blood:
6	chr6:33363619..33367715-chr6:33369432..33373076,4	K562	blood:

Variant related genes	Relation type
ENSG00000204209	Chromatin interaction
ENSG00000237649	Chromatin interaction
ENSG00000204194	Chromatin interaction
ENSG00000213588	Chromatin interaction
ENSG00000204220	Chromatin interaction
ENSG00000227057	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs12204193	0.83[ASN][1000 genomes]
rs2274730	0.83[ASN][1000 genomes]
rs2743	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2772373	0.80[ASN][1000 genomes]
rs3117320	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3130001	0.84[EUR][1000 genomes]
rs3130002	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3130006	0.86[AMR][1000 genomes]
rs3130007	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3130015	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3130274	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3130275	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3130276	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs371005	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs376006	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs391500	0.86[AMR][1000 genomes]
rs442745	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs456993	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs459927	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs461887	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs461964	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4620113	0.82[ASN][1000 genomes]
rs465223	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs465474	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs465506	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs465877	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs467065	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6942045	0.85[AMR][1000 genomes]
rs9278025	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9278029	0.83[AMR][1000 genomes]
rs9368760	0.86[AMR][1000 genomes]
rs9380355	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830635	chr6:33238005-33413787	Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
2	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs420714	TAPBP	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33360000-33371000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:33360000-33377400	Weak transcription	Small Intestine	intestine
3	chr6:33360000-33377600	Weak transcription	Right Atrium	heart
4	chr6:33360400-33377600	Weak transcription	Esophagus	oesophagus
5	chr6:33360400-33377600	Weak transcription	Lung	lung
6	chr6:33360800-33365800	Weak transcription	Stomach Mucosa	stomach
7	chr6:33360800-33371000	Weak transcription	Placenta	Placenta
8	chr6:33360800-33371200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr6:33360800-33377200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr6:33361000-33365400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr6:33361000-33371000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr6:33361000-33371200	Weak transcription	Gastric	stomach
13	chr6:33361000-33371400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr6:33361000-33372600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr6:33361000-33377200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr6:33361200-33365400	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr6:33361200-33365400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr6:33361200-33365600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr6:33361200-33365600	Weak transcription	Fetal Intestine Small	intestine
20	chr6:33361200-33365800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:33361200-33366000	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr6:33361200-33366600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr6:33361200-33370600	Weak transcription	Fetal Intestine Large	intestine
24	chr6:33361200-33371000	Weak transcription	Duodenum Mucosa	Duodenum
25	chr6:33361200-33371200	Weak transcription	Spleen	Spleen
26	chr6:33361200-33371400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr6:33361200-33377200	Weak transcription	Colonic Mucosa	Colon
28	chr6:33361200-33377800	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr6:33361400-33365400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr6:33361400-33371200	Weak transcription	Fetal Kidney	kidney
31	chr6:33361600-33369800	Weak transcription	Primary hematopoietic stem cells	blood
32	chr6:33361600-33377200	Weak transcription	Primary B cells from cord blood	blood
33	chr6:33362000-33365400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr6:33362000-33365400	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr6:33362000-33365400	Weak transcription	Fetal Muscle Leg	muscle
36	chr6:33362000-33365400	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr6:33362000-33365600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr6:33362200-33365400	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr6:33362200-33365600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr6:33362200-33365600	Weak transcription	Fetal Stomach	stomach
41	chr6:33362200-33377600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr6:33362400-33365800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr6:33362400-33371200	Weak transcription	Fetal Brain Female	brain
44	chr6:33362600-33365400	Weak transcription	Fetal Muscle Trunk	muscle
45	chr6:33362800-33364800	Weak transcription	Thymus	Thymus
46	chr6:33362800-33365400	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr6:33362800-33376200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr6:33363000-33365400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr6:33363000-33376400	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr6:33363000-33376400	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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