Variant report

Variant	rs4565867
Chromosome Location	chr11:105948113-105948114
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	SP1	chr11:105947349-105948902	HCT-116	colon:	n/a	chr11:105947823-105947832 chr11:105948293-105948302 chr11:105948292-105948301 chr11:105948370-105948382 chr11:105948372-105948381 chr11:105948370-105948382 chr11:105948371-105948381 chr11:105948291-105948303 chr11:105947818-105947832 chr11:105948367-105948381 chr11:105948250-105948259 chr11:105948371-105948381 chr11:105948371-105948380
2	BHLHE40	chr11:105947598-105949204	HepG2	liver:	n/a	chr11:105948746-105948762 chr11:105948248-105948264 chr11:105948754-105948770
3	NR2F2	chr11:105947694-105948625	K562	blood:	n/a	n/a
4	POLR2A	chr11:105947488-105948170	HCT-116	colon:	n/a	n/a
5	RFX5	chr11:105947508-105949236	Hela-S3	cervix:	n/a	n/a
6	FOS	chr11:105948039-105948323	MCF10A-Er-Src	breast:	n/a	n/a
7	CTCF	chr11:105948000-105948150	HVMF	connective:	n/a	n/a
8	TAF1	chr11:105947402-105948862	H1-hESC	embryonic stem cell:	n/a	n/a
9	TAF1	chr11:105947541-105948842	HepG2	liver:	n/a	n/a
10	CEBPB	chr11:105947485-105948394	HepG2	liver:	n/a	chr11:105947854-105947865 chr11:105947854-105947867 chr11:105947856-105947865
11	ELF1	chr11:105947565-105948600	GM12878	blood:	n/a	n/a
12	CHD1	chr11:105947511-105948178	GM12878	blood:	n/a	n/a
13	IRF1	chr11:105947553-105949649	K562	blood:	n/a	chr11:105949335-105949346 chr11:105948246-105948260 chr11:105948169-105948183 chr11:105948370-105948384
14	MAZ	chr11:105947295-105948722	HepG2	liver:	n/a	n/a
15	POLR2A	chr11:105947329-105948971	GM12892	blood:	n/a	n/a
16	CREB1	chr11:105947497-105948745	H1-hESC	embryonic stem cell:	n/a	n/a
17	KAP1	chr11:105946588-105949176	HEK293	kidney:	n/a	n/a
18	POLR2A	chr11:105947806-105948164	A549	lung:	n/a	n/a
19	ZBTB7A	chr11:105947581-105948352	HepG2	liver:	n/a	n/a
20	POLR2A	chr11:105947460-105948660	HepG2	liver:	n/a	n/a
21	TCF7L2	chr11:105947560-105948612	PANC-1	pancreas:	n/a	n/a
22	CTCF	chr11:105947980-105948130	NB4	blood:	n/a	n/a
23	POLR2A	chr11:105947500-105948795	PANC-1	pancreas:	n/a	n/a
24	CREB1	chr11:105947399-105948922	GM12878	blood:	n/a	n/a
25	TCF12	chr11:105947418-105948284	A549	lung:	n/a	n/a
26	MYC	chr11:105947271-105949333	K562	blood:	n/a	chr11:105949045-105949054 chr11:105949046-105949053
27	TAF1	chr11:105947972-105948817	SK-N-SH	brain:	n/a	n/a
28	MYC	chr11:105948005-105949314	MCF10A-Er-Src	breast:	n/a	chr11:105949045-105949054 chr11:105949046-105949053
29	POLR2A	chr11:105947334-105948914	GM18526	blood:	n/a	n/a
30	TAF1	chr11:105947381-105948627	K562	blood:	n/a	n/a
31	POLR2A	chr11:105947663-105948910	Hela-S3	cervix:	n/a	n/a
32	CBX3	chr11:105947457-105948677	K562	blood:	n/a	n/a
33	ZNF143	chr11:105947599-105948119	Hela-S3	cervix:	n/a	n/a
34	NFYB	chr11:105947766-105948328	K562	blood:	n/a	n/a
35	CEBPB	chr11:105947565-105948311	A549	lung:	n/a	chr11:105947854-105947865 chr11:105947854-105947867 chr11:105947856-105947865
36	TBP	chr11:105947452-105949224	K562	blood:	n/a	n/a
37	CCNT2	chr11:105947539-105948884	K562	blood:	n/a	chr11:105948371-105948380
38	POLR2A	chr11:105947886-105948872	HUVEC	blood vessel:	n/a	n/a
39	MAFK	chr11:105947578-105948219	HepG2	liver:	n/a	n/a
40	FOS	chr11:105947924-105948303	K562	blood:	n/a	n/a
41	POLR2A	chr11:105947508-105948200	HepG2	liver:	n/a	n/a
42	POLR2A	chr11:105947064-105949970	MCF10A-Er-Src	breast:	n/a	n/a
43	MYC	chr11:105947904-105948757	A549	lung:	n/a	n/a
44	PAX5	chr11:105947394-105948775	GM12878	blood:	n/a	chr11:105948274-105948283
45	CHD2	chr11:105947060-105948769	K562	blood:	n/a	n/a
46	CHD2	chr11:105947222-105948538	H1-hESC	embryonic stem cell:	n/a	n/a
47	MAZ	chr11:105947162-105949226	IMR90	lung:	n/a	chr11:105949045-105949054 chr11:105949046-105949053
48	POLR2A	chr11:105947454-105948880	K562	blood:	n/a	n/a
49	TCF7L2	chr11:105947548-105948914	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr11:105947355-105948876	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:105948098-105948148	HRCEpiC	kidney:	n/a
2	chr11:105948098-105948148	K562	blood:	n/a
3	chr11:105948098-105948148	AG10803	skin:	n/a
4	chr11:105948098-105948148	H1-hESC	embryonic stem cell:	embryo
5	chr11:105948098-105948148	NHDF-neo	bronchial:	n/a
6	chr11:105948098-105948148	HL-60	blood:	n/a
7	chr11:105948098-105948148	AG09309	skin:	n/a
8	chr11:105948098-105948148	PANC-1	pancreas:	n/a
9	chr11:105948098-105948148	ovcar-3	ovarian:	n/a
10	chr11:105948098-105948148	HCPEpiC	choroid plexus:	n/a
11	chr11:105948098-105948148	HRE	kidney:	n/a
12	chr11:105948098-105948148	NT2-D1	testis:	n/a
13	chr11:105948098-105948148	ECC-1	luminal epithelium:	n/a
14	chr11:105948098-105948148	Hela-S3	cervix:	n/a
15	chr11:105948098-105948148	ProgFib	skin:	n/a
16	chr11:105948098-105948148	PFSK-1	brain:	n/a
17	chr11:105948098-105948148	HIPEpiC	eye:	n/a
18	chr11:105948098-105948148	GM12891	blood:	n/a
19	chr11:105948098-105948148	HepG2	liver:	n/a
20	chr11:105948098-105948148	SAEC	small airway:	n/a
21	chr11:105948098-105948148	HAEpiC	amniotic membrane:	n/a
22	chr11:105948098-105948148	RPTEC	kidney:	n/a
23	chr11:105948098-105948148	SKMC	muscle:	n/a
24	chr11:105948098-105948148	GM12892	blood:	n/a
25	chr11:105948098-105948148	AG09319	gingival:	n/a
26	chr11:105948098-105948148	PrEC	prostate:	n/a
27	chr11:105948098-105948148	A549	lung:	n/a
28	chr11:105948098-105948148	MCF10A-Er-Src	breast:	n/a
29	chr11:105948098-105948148	HCM	heart:	n/a
30	chr11:105948098-105948148	AG04450	lung:	fetal
31	chr11:105948098-105948148	HNPCEpiC	eye:	n/a
32	chr11:105948098-105948148	HUVEC	blood vessel:	n/a
33	chr11:105948098-105948148	AoSMC	blood vessel:	n/a
34	chr11:105948098-105948148	MCF-7	breast:	n/a
35	chr11:105948098-105948148	NHBE	bronchial:	n/a
36	chr11:105948098-105948148	BE2_C	brain:	n/a
37	chr11:105948098-105948148	LNCaP	prostate:	n/a
38	chr11:105948098-105948148	CMK	blood:	n/a
39	chr11:105948098-105948148	SK-N-SH	brain:	n/a
40	chr11:105948098-105948148	U87	brain:	n/a
41	chr11:105948098-105948148	Jurkat	blood:	n/a
42	chr11:105948098-105948148	GM06990	blood:	n/a
43	chr11:105948098-105948148	NB4	blood:	n/a
44	chr11:105948098-105948148	HEEpiC	esophagus:	n/a
45	chr11:105948098-105948148	HCT-116	colon:	n/a
46	chr11:105948098-105948148	HMEC	breast:	n/a
47	chr11:105948098-105948148	HPAEpiC	pulmonary alveolar:	n/a
48	chr11:105948098-105948148	T-47D	breast:	n/a
49	chr11:105948098-105948148	HRPEpiC	eye:	n/a
50	chr11:105948098-105948148	GM19239	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:105889494..105894632-chr11:105945234..105949346,5	K562	blood:
2	chr11:105947754..105948751-chr12:6862127..6862787,2	NB4	blood:
3	chr11:105948023..105948884-chr17:76124438..76125060,2	HCT-116	colon:
4	chr11:65625038..65625631-chr11:105947974..105948808,2	Hela-S3	cervix:
5	chr11:105947692..105948648-chr15:65597007..65597634,2	NB4	blood:
6	chr11:105890839..105893464-chr11:105945938..105948303,3	K562	blood:
7	chr11:105948054..105950572-chr11:105959148..105962430,3	K562	blood:
8	chr11:105892933..105893708-chr11:105947335..105948123,2	NB4	blood:

Variant related genes	Relation type
AASDHPPT	TF binding region
KBTBD3	TF binding region
AASDHPPT	CpG island
KBTBD3	CpG island
ENSG00000172757	Chromatin interaction
ENSG00000170903	Chromatin interaction
ENSG00000149313	Chromatin interaction
ENSG00000200156	Chromatin interaction
ENSG00000141524	Chromatin interaction
ENSG00000089693	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10895899	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10895904	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11226915	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11226922	0.93[ASN][1000 genomes]
rs11226931	0.83[ASN][1000 genomes]
rs1893174	0.82[ASN][1000 genomes]
rs1939798	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1939799	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1940772	0.90[ASN][1000 genomes]
rs2155340	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2186731	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4237618	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4440991	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4754141	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7130759	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7131047	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9943677	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048381	chr11:105945117-106561574	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4565867	AASDHPPT	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:105946600-105949600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:105946600-105949600	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr11:105946600-105949800	Active TSS	Brain Angular Gyrus	brain
4	chr11:105946600-105950200	Active TSS	K562	blood
5	chr11:105946800-105949000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr11:105946800-105949000	Active TSS	Fetal Kidney	kidney
7	chr11:105946800-105949200	Active TSS	Fetal Intestine Small	intestine
8	chr11:105946800-105949400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr11:105946800-105949600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr11:105946800-105949600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr11:105946800-105949600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr11:105946800-105949600	Active TSS	Fetal Intestine Large	intestine
13	chr11:105946800-105949800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr11:105946800-105949800	Active TSS	NHLF	lung
15	chr11:105946800-105950200	Active TSS	H1 Cell Line	embryonic stem cell
16	chr11:105946800-105950200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr11:105946800-105950200	Active TSS	Brain Germinal Matrix	brain
18	chr11:105947000-105949000	Active TSS	Duodenum Mucosa	Duodenum
19	chr11:105947000-105949000	Active TSS	Right Ventricle	heart
20	chr11:105947000-105949000	Active TSS	Thymus	Thymus
21	chr11:105947000-105949200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr11:105947000-105949200	Active TSS	Colonic Mucosa	Colon
23	chr11:105947000-105949200	Active TSS	Fetal Muscle Trunk	muscle
24	chr11:105947000-105949200	Active TSS	Left Ventricle	heart
25	chr11:105947000-105949200	Active TSS	Stomach Smooth Muscle	stomach
26	chr11:105947000-105949200	Active TSS	NH-A	brain
27	chr11:105947000-105949400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr11:105947000-105949400	Active TSS	Fetal Stomach	stomach
29	chr11:105947000-105949400	Active TSS	Stomach Mucosa	stomach
30	chr11:105947000-105949600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr11:105947000-105949600	Active TSS	Brain Cingulate Gyrus	brain
32	chr11:105947000-105949600	Active TSS	Brain Substantia Nigra	brain
33	chr11:105947000-105949600	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr11:105947000-105949600	Active TSS	NHDF-Ad	bronchial
35	chr11:105947000-105949800	Active TSS	H9 Cell Line	embryonic stem cell
36	chr11:105947000-105949800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr11:105947000-105949800	Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr11:105947000-105949800	Active TSS	Ovary	ovary
39	chr11:105947000-105949800	Active TSS	Pancreas	Pancrea
40	chr11:105947000-105950000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr11:105947000-105950000	Active TSS	Psoas Muscle	Psoas
42	chr11:105947000-105950000	Active TSS	Right Atrium	heart
43	chr11:105947000-105950200	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr11:105947200-105948800	Bivalent/Poised TSS	HepG2	liver
45	chr11:105947200-105949000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr11:105947200-105949000	Active TSS	Muscle Satellite Cultured Cells	--
47	chr11:105947200-105949000	Active TSS	Colon Smooth Muscle	Colon
48	chr11:105947200-105949000	Active TSS	Fetal Heart	heart
49	chr11:105947200-105949000	Active TSS	Gastric	stomach
50	chr11:105947200-105949000	Active TSS	Rectal Mucosa Donor 29	rectum

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