Variant report

Variant	rs4440991
Chromosome Location	chr11:105947931-105947932
allele	A/T
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	CTCF	chr11:105947607-105947952	GM10248	blood:	n/a	chr11:105947861-105947879 chr11:105947864-105947877 chr11:105947863-105947884
3	BHLHE40	chr11:105947598-105949204	HepG2	liver:	n/a	chr11:105948746-105948762 chr11:105948248-105948264 chr11:105948754-105948770
4	CTCFL	chr11:105947779-105947955	K562	blood:	n/a	chr11:105947868-105947877
5	NR2F2	chr11:105947694-105948625	K562	blood:	n/a	n/a
6	BACH1	chr11:105947626-105948112	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr11:105947488-105948170	HCT-116	colon:	n/a	n/a
8	RFX5	chr11:105947508-105949236	Hela-S3	cervix:	n/a	n/a
9	TAF1	chr11:105947402-105948862	H1-hESC	embryonic stem cell:	n/a	n/a
10	TAF1	chr11:105947541-105948842	HepG2	liver:	n/a	n/a
11	CEBPB	chr11:105947485-105948394	HepG2	liver:	n/a	chr11:105947854-105947865 chr11:105947854-105947867 chr11:105947856-105947865
12	ELF1	chr11:105947565-105948600	GM12878	blood:	n/a	n/a
13	CTCF	chr11:105947800-105947950	GM12865	blood:	n/a	chr11:105947861-105947879 chr11:105947864-105947877 chr11:105947863-105947884
14	CHD1	chr11:105947511-105948178	GM12878	blood:	n/a	n/a
15	IRF1	chr11:105947553-105949649	K562	blood:	n/a	chr11:105949335-105949346 chr11:105948246-105948260 chr11:105948169-105948183 chr11:105948370-105948384
16	MYC	chr11:105947443-105948043	H1-hESC	embryonic stem cell:	n/a	n/a
17	MAZ	chr11:105947295-105948722	HepG2	liver:	n/a	n/a
18	POLR2A	chr11:105947329-105948971	GM12892	blood:	n/a	n/a
19	CTCFL	chr11:105947603-105947968	K562	blood:	n/a	chr11:105947868-105947877
20	CTCF	chr11:105947580-105947934	LNCaP	prostate:	n/a	chr11:105947861-105947879 chr11:105947864-105947877 chr11:105947863-105947884
21	CTCF	chr11:105947760-105948030	WI-38	lung:	n/a	chr11:105947861-105947879 chr11:105947864-105947877 chr11:105947863-105947884
22	CREB1	chr11:105947497-105948745	H1-hESC	embryonic stem cell:	n/a	n/a
23	STAT3	chr11:105947212-105948034	GM12878	blood:	n/a	chr11:105947248-105947268
24	KAP1	chr11:105946588-105949176	HEK293	kidney:	n/a	n/a
25	POLR2A	chr11:105947806-105948164	A549	lung:	n/a	n/a
26	ZBTB7A	chr11:105947581-105948352	HepG2	liver:	n/a	n/a
27	POLR2A	chr11:105947460-105948660	HepG2	liver:	n/a	n/a
28	TCF7L2	chr11:105947560-105948612	PANC-1	pancreas:	n/a	n/a
29	POLR2A	chr11:105947500-105948795	PANC-1	pancreas:	n/a	n/a
30	CREB1	chr11:105947399-105948922	GM12878	blood:	n/a	n/a
31	TCF12	chr11:105947418-105948284	A549	lung:	n/a	n/a
32	SPI1	chr11:105947765-105947933	K562	blood:	n/a	n/a
33	MYC	chr11:105947271-105949333	K562	blood:	n/a	chr11:105949045-105949054 chr11:105949046-105949053
34	ZC3H11A	chr11:105947600-105948088	K562	blood:	n/a	n/a
35	CTCF	chr11:105947562-105948024	Fibrobl	skin:	n/a	chr11:105947861-105947879 chr11:105947864-105947877 chr11:105947863-105947884
36	POLR2A	chr11:105947334-105948914	GM18526	blood:	n/a	n/a
37	TAF1	chr11:105947381-105948627	K562	blood:	n/a	n/a
38	POLR2A	chr11:105947663-105948910	Hela-S3	cervix:	n/a	n/a
39	CBX3	chr11:105947457-105948677	K562	blood:	n/a	n/a
40	ZNF143	chr11:105947599-105948119	Hela-S3	cervix:	n/a	n/a
41	NFYB	chr11:105947766-105948328	K562	blood:	n/a	n/a
42	CEBPB	chr11:105947565-105948311	A549	lung:	n/a	chr11:105947854-105947865 chr11:105947854-105947867 chr11:105947856-105947865
43	CTCF	chr11:105947860-105948010	GM12801	blood:	n/a	chr11:105947861-105947879 chr11:105947864-105947877 chr11:105947863-105947884
44	TBP	chr11:105947452-105949224	K562	blood:	n/a	n/a
45	CTCF	chr11:105947820-105947970	GM12874	blood:	n/a	chr11:105947861-105947879 chr11:105947864-105947877 chr11:105947863-105947884
46	CCNT2	chr11:105947539-105948884	K562	blood:	n/a	chr11:105948371-105948380
47	POLR2A	chr11:105947886-105948872	HUVEC	blood vessel:	n/a	n/a
48	MAFK	chr11:105947578-105948219	HepG2	liver:	n/a	n/a
49	FOS	chr11:105947924-105948303	K562	blood:	n/a	n/a
50	POLR2A	chr11:105947508-105948200	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:105947912-105947962	SKMC	muscle:	n/a
2	chr11:105947912-105947962	Caco-2	colon:	n/a
3	chr11:105947912-105947962	ProgFib	skin:	n/a
4	chr11:105947912-105947962	NHDF-neo	bronchial:	n/a
5	chr11:105947912-105947962	T-47D	breast:	n/a
6	chr11:105947912-105947962	AG04449	skin:	fetal
7	chr11:105947912-105947962	AG04450	lung:	fetal
8	chr11:105947912-105947962	U87	brain:	n/a
9	chr11:105947912-105947962	GM12878	blood:	n/a
10	chr11:105947912-105947962	HNPCEpiC	eye:	n/a
11	chr11:105947912-105947962	CMK	blood:	n/a
12	chr11:105947912-105947962	ovcar-3	ovarian:	n/a
13	chr11:105947912-105947962	SK-N-MC	brain:	n/a
14	chr11:105947912-105947962	PFSK-1	brain:	n/a
15	chr11:105947912-105947962	GM19239	blood:	n/a
16	chr11:105947912-105947962	HCT-116	colon:	n/a
17	chr11:105947912-105947962	HepG2	liver:	n/a
18	chr11:105947912-105947962	HEK293	kidney:	embryo
19	chr11:105947912-105947962	HUVEC	blood vessel:	n/a
20	chr11:105947912-105947962	HIPEpiC	eye:	n/a
21	chr11:105947912-105947962	HRCEpiC	kidney:	n/a
22	chr11:105947912-105947962	HCPEpiC	choroid plexus:	n/a
23	chr11:105947912-105947962	SK-N-SH_RA	brain:	n/a
24	chr11:105947912-105947962	GM12892	blood:	n/a
25	chr11:105947912-105947962	GM12891	blood:	n/a
26	chr11:105947912-105947962	H1-hESC	embryonic stem cell:	embryo
27	chr11:105947912-105947962	HAEpiC	amniotic membrane:	n/a
28	chr11:105947912-105947962	IMR90	lung:	fetal
29	chr11:105947912-105947962	NH-A	brain:	n/a
30	chr11:105947912-105947962	PANC-1	pancreas:	n/a
31	chr11:105947912-105947962	ECC-1	luminal epithelium:	n/a
32	chr11:105947912-105947962	HRE	kidney:	n/a
33	chr11:105947912-105947962	K562	blood:	n/a
34	chr11:105947912-105947962	Hela-S3	cervix:	n/a
35	chr11:105947912-105947962	AG09319	gingival:	n/a
36	chr11:105947912-105947962	BE2_C	brain:	n/a
37	chr11:105947912-105947962	HRPEpiC	eye:	n/a
38	chr11:105947912-105947962	Hepatocyte	liver:	n/a
39	chr11:105947912-105947962	HCM	heart:	n/a
40	chr11:105947912-105947962	BJ	skin:	n/a
41	chr11:105947912-105947962	NT2-D1	testis:	n/a
42	chr11:105947912-105947962	HCF	heart:	n/a
43	chr11:105947912-105947962	HL-60	blood:	n/a
44	chr11:105947912-105947962	NB4	blood:	n/a
45	chr11:105947912-105947962	HPAEpiC	pulmonary alveolar:	n/a
46	chr11:105947912-105947962	Jurkat	blood:	n/a
47	chr11:105947912-105947962	HMEC	breast:	n/a
48	chr11:105947912-105947962	A549	lung:	n/a
49	chr11:105947912-105947962	SAEC	small airway:	n/a
50	chr11:105947912-105947962	MCF-7	breast:	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	chr11:105947692..105948648-chr15:65597007..65597634,2	NB4	blood:
4	chr11:105890839..105893464-chr11:105945938..105948303,3	K562	blood:
5	chr11:105892933..105893708-chr11:105947335..105948123,2	NB4	blood:

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

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1047636	0.94[CEU][hapmap];0.80[EUR][1000 genomes]
rs10791780	0.90[CHB][hapmap]
rs10895899	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10895900	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs10895904	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11226915	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];0.94[YRI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11226920	0.85[CHB][hapmap]
rs11226922	0.90[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs11226931	0.83[ASN][1000 genomes]
rs12365489	0.90[CHB][hapmap]
rs17105049	0.85[CHB][hapmap]
rs1893174	0.91[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs1939798	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1939799	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1940772	0.90[ASN][1000 genomes]
rs2155340	0.84[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2186731	0.84[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3740869	0.81[CHB][hapmap]
rs4237618	1.00[CEU][hapmap];0.95[CHB][hapmap];0.96[JPT][hapmap];0.83[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4474407	0.91[CHB][hapmap]
rs4565867	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4754141	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7108636	0.86[CHB][hapmap]
rs7130759	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7131047	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs754562	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs7554	0.90[CHB][hapmap]
rs766717	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs9651674	0.90[CHB][hapmap];0.82[JPT][hapmap]
rs9943677	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[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
rs4440991	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	chr11:105946800-105948000	Flanking Active TSS	Primary hematopoietic stem cells	blood
6	chr11:105946800-105948000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
7	chr11:105946800-105949000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr11:105946800-105949000	Active TSS	Fetal Kidney	kidney
9	chr11:105946800-105949200	Active TSS	Fetal Intestine Small	intestine
10	chr11:105946800-105949400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr11:105946800-105949600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr11:105946800-105949600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr11:105946800-105949600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr11:105946800-105949600	Active TSS	Fetal Intestine Large	intestine
15	chr11:105946800-105949800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr11:105946800-105949800	Active TSS	NHLF	lung
17	chr11:105946800-105950200	Active TSS	H1 Cell Line	embryonic stem cell
18	chr11:105946800-105950200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr11:105946800-105950200	Active TSS	Brain Germinal Matrix	brain
20	chr11:105947000-105948000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
21	chr11:105947000-105949000	Active TSS	Duodenum Mucosa	Duodenum
22	chr11:105947000-105949000	Active TSS	Right Ventricle	heart
23	chr11:105947000-105949000	Active TSS	Thymus	Thymus
24	chr11:105947000-105949200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr11:105947000-105949200	Active TSS	Colonic Mucosa	Colon
26	chr11:105947000-105949200	Active TSS	Fetal Muscle Trunk	muscle
27	chr11:105947000-105949200	Active TSS	Left Ventricle	heart
28	chr11:105947000-105949200	Active TSS	Stomach Smooth Muscle	stomach
29	chr11:105947000-105949200	Active TSS	NH-A	brain
30	chr11:105947000-105949400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr11:105947000-105949400	Active TSS	Fetal Stomach	stomach
32	chr11:105947000-105949400	Active TSS	Stomach Mucosa	stomach
33	chr11:105947000-105949600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr11:105947000-105949600	Active TSS	Brain Cingulate Gyrus	brain
35	chr11:105947000-105949600	Active TSS	Brain Substantia Nigra	brain
36	chr11:105947000-105949600	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr11:105947000-105949600	Active TSS	NHDF-Ad	bronchial
38	chr11:105947000-105949800	Active TSS	H9 Cell Line	embryonic stem cell
39	chr11:105947000-105949800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr11:105947000-105949800	Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr11:105947000-105949800	Active TSS	Ovary	ovary
42	chr11:105947000-105949800	Active TSS	Pancreas	Pancrea
43	chr11:105947000-105950000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr11:105947000-105950000	Active TSS	Psoas Muscle	Psoas
45	chr11:105947000-105950000	Active TSS	Right Atrium	heart
46	chr11:105947000-105950200	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr11:105947200-105948000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
48	chr11:105947200-105948800	Bivalent/Poised TSS	HepG2	liver
49	chr11:105947200-105949000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr11:105947200-105949000	Active TSS	Muscle Satellite Cultured Cells	--

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