Variant report

Variant	rs932374
Chromosome Location	chr1:209848432-209848433
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	MAX	chr1:209848418-209849484	SK-N-SH	brain:	n/a	n/a
2	CUX1	chr1:209848155-209848803	K562	blood:	n/a	n/a
3	E2F6	chr1:209848296-209848785	A549	lung:	n/a	n/a
4	TCF7L2	chr1:209848239-209848592	HEK293	kidney:	n/a	n/a
5	YY1	chr1:209848170-209848727	H1-hESC	embryonic stem cell:	n/a	chr1:209848423-209848435 chr1:209848424-209848446
6	TEAD4	chr1:209848338-209848923	ECC-1	luminal epithelium:	n/a	n/a
7	CTBP2	chr1:209848410-209849491	H1-hESC	embryonic stem cell:	n/a	n/a
8	ZNF263	chr1:209848369-209848712	HEK293-T-REx	kidney:	n/a	n/a
9	MAX	chr1:209848334-209849646	H1-hESC	embryonic stem cell:	n/a	n/a
10	TCF12	chr1:209848125-209849142	ECC-1	luminal epithelium:	n/a	chr1:209848979-209848989
11	JUN	chr1:209845877-209850984	K562	blood:	n/a	chr1:209846829-209846839 chr1:209846830-209846838 chr1:209850154-209850163 chr1:209846657-209846666 chr1:209846828-209846840 chr1:209850457-209850468 chr1:209847133-209847144
12	ZC3H11A	chr1:209848405-209848869	K562	blood:	n/a	n/a
13	BHLHE40	chr1:209848397-209848773	GM12878	blood:	n/a	n/a
14	UBTF	chr1:209848162-209849482	K562	blood:	n/a	n/a
15	MYC	chr1:209848350-209849184	K562	blood:	n/a	n/a
16	MAX	chr1:209848105-209849737	H1-hESC	embryonic stem cell:	n/a	n/a
17	MAX	chr1:209848314-209848858	A549	lung:	n/a	n/a
18	MAFK	chr1:209848215-209849006	K562	blood:	n/a	chr1:209848342-209848357
19	POLR2A	chr1:209845589-209851436	K562	blood:	n/a	n/a
20	YY1	chr1:209848216-209848691	ECC-1	luminal epithelium:	n/a	chr1:209848423-209848435 chr1:209848424-209848446
21	MAX	chr1:209848257-209849079	ECC-1	luminal epithelium:	n/a	n/a
22	ESR1	chr1:209848307-209849002	ECC-1	luminal epithelium:	n/a	chr1:209848364-209848381
23	MAX	chr1:209848319-209848799	K562	blood:	n/a	n/a
24	RCOR1	chr1:209847926-209849163	K562	blood:	n/a	n/a
25	EP300	chr1:209848095-209849538	ECC-1	luminal epithelium:	n/a	chr1:209848789-209848805
26	ZNF384	chr1:209848297-209849023	K562	blood:	n/a	n/a
27	CCNT2	chr1:209848313-209849504	K562	blood:	n/a	n/a
28	USF2	chr1:209848317-209848552	GM12878	blood:	n/a	n/a
29	YY1	chr1:209848263-209848592	H1-hESC	embryonic stem cell:	n/a	chr1:209848423-209848435 chr1:209848424-209848446
30	BHLHE40	chr1:209848177-209849684	K562	blood:	n/a	chr1:209848854-209848870
31	MAZ	chr1:209846271-209849643	K562	blood:	n/a	chr1:209846852-209846861 chr1:209846850-209846863 chr1:209846852-209846861 chr1:209846851-209846862 chr1:209846850-209846863 chr1:209846852-209846861 chr1:209846851-209846862 chr1:209846851-209846860
32	TEAD4	chr1:209848048-209848848	K562	blood:	n/a	n/a
33	PAX5	chr1:209848329-209848603	GM12892	blood:	n/a	n/a
34	MAX	chr1:209848047-209849006	ECC-1	luminal epithelium:	n/a	n/a
35	ZMIZ1	chr1:209848045-209849180	K562	blood:	n/a	n/a
36	NFIC	chr1:209848255-209849176	ECC-1	luminal epithelium:	n/a	n/a
37	EP300	chr1:209848312-209849037	K562	blood:	n/a	chr1:209848789-209848805
38	MAX	chr1:209848357-209849616	SK-N-SH	brain:	n/a	n/a
39	MAX	chr1:209848423-209848888	GM12878	blood:	n/a	n/a
40	TCF12	chr1:209848193-209849150	ECC-1	luminal epithelium:	n/a	chr1:209848979-209848989
41	MYC	chr1:209846187-209850023	K562	blood:	n/a	chr1:209846852-209846861 chr1:209846850-209846863 chr1:209846852-209846861 chr1:209846851-209846862 chr1:209846850-209846863 chr1:209846852-209846861 chr1:209846851-209846862 chr1:209846851-209846860
42	MYC	chr1:209847963-209849641	K562	blood:	n/a	n/a
43	HMGN3	chr1:209848321-209849465	K562	blood:	n/a	n/a
44	TBL1XR1	chr1:209848087-209848917	K562	blood:	n/a	n/a
45	KAP1	chr1:209848397-209848688	HEK293	kidney:	n/a	n/a
46	TEAD4	chr1:209848247-209849013	ECC-1	luminal epithelium:	n/a	n/a
47	EGR1	chr1:209848375-209848855	ECC-1	luminal epithelium:	n/a	n/a
48	ESR1	chr1:209848392-209848965	ECC-1	luminal epithelium:	n/a	n/a
49	RAD21	chr1:209848282-209848934	ECC-1	luminal epithelium:	n/a	chr1:209848845-209848857 chr1:209848868-209848882 chr1:209848846-209848859
50	JUND	chr1:209848375-209849522	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:209848402-209848452	Jurkat	blood:	n/a
2	chr1:209848402-209848452	GM12878	blood:	n/a
3	chr1:209848402-209848452	GM12891	blood:	n/a
4	chr1:209848402-209848452	SAEC	small airway:	n/a
5	chr1:209848402-209848452	NHBE	bronchial:	n/a
6	chr1:209848402-209848452	ProgFib	skin:	n/a
7	chr1:209848402-209848452	HNPCEpiC	eye:	n/a
8	chr1:209848402-209848452	PFSK-1	brain:	n/a
9	chr1:209848402-209848452	HAEpiC	amniotic membrane:	n/a
10	chr1:209848402-209848452	HCPEpiC	choroid plexus:	n/a
11	chr1:209848402-209848452	Caco-2	colon:	n/a
12	chr1:209848402-209848452	PrEC	prostate:	n/a
13	chr1:209848402-209848452	LNCaP	prostate:	n/a
14	chr1:209848402-209848452	CMK	blood:	n/a
15	chr1:209848402-209848452	NB4	blood:	n/a
16	chr1:209848402-209848452	GM12892	blood:	n/a
17	chr1:209848402-209848452	HEK293	kidney:	embryo
18	chr1:209848402-209848452	AG09319	gingival:	n/a
19	chr1:209848402-209848452	HCF	heart:	n/a
20	chr1:209848402-209848452	SKMC	muscle:	n/a
21	chr1:209848402-209848452	NH-A	brain:	n/a
22	chr1:209848402-209848452	ovcar-3	ovarian:	n/a
23	chr1:209848402-209848452	T-47D	breast:	n/a
24	chr1:209848402-209848452	AG04450	lung:	fetal
25	chr1:209848402-209848452	Hepatocyte	liver:	n/a
26	chr1:209848402-209848452	K562	blood:	n/a
27	chr1:209848402-209848452	HUVEC	blood vessel:	n/a
28	chr1:209848402-209848452	HepG2	liver:	n/a
29	chr1:209848402-209848452	NT2-D1	testis:	n/a
30	chr1:209848402-209848452	RPTEC	kidney:	n/a
31	chr1:209848402-209848452	Hela-S3	cervix:	n/a
32	chr1:209848402-209848452	A549	lung:	n/a
33	chr1:209848402-209848452	GM19239	blood:	n/a
34	chr1:209848402-209848452	BJ	skin:	n/a
35	chr1:209848402-209848452	HMEC	breast:	n/a
36	chr1:209848402-209848452	AG10803	skin:	n/a
37	chr1:209848402-209848452	AoSMC	blood vessel:	n/a
38	chr1:209848402-209848452	IMR90	lung:	fetal
39	chr1:209848402-209848452	GM06990	blood:	n/a
40	chr1:209848402-209848452	HCT-116	colon:	n/a
41	chr1:209848402-209848452	U87	brain:	n/a
42	chr1:209848402-209848452	SK-N-SH	brain:	n/a
43	chr1:209848402-209848452	MCF10A-Er-Src	breast:	n/a
44	chr1:209848402-209848452	SK-N-SH_RA	brain:	n/a
45	chr1:209848402-209848452	PANC-1	pancreas:	n/a
46	chr1:209848402-209848452	SK-N-MC	brain:	n/a
47	chr1:209848402-209848452	HCM	heart:	n/a
48	chr1:209848402-209848452	H1-hESC	embryonic stem cell:	embryo
49	chr1:209848402-209848452	BE2_C	brain:	n/a
50	chr1:209848402-209848452	HL-60	blood:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:209839113..209843084-chr1:209844641..209848547,5	K562	blood:

Variant related genes	Relation type
G0S2	TF binding region
G0S2	CpG island

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10779511	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10779512	0.82[ASN][1000 genomes]
rs11576775	0.82[GIH][hapmap]
rs3817870	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4844486	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.81[LWK][hapmap];0.82[MKK][hapmap];0.93[TSI][hapmap];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6540546	1.00[CEU][hapmap];0.90[GIH][hapmap];0.90[MEX][hapmap];0.94[TSI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873139	chr1:209828955-210050794	Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs932374	IKBKE	cis	parietal	SCAN

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209846400-209848600	Enhancers	Primary T killer memory cells from peripheral blood	blood
2	chr1:209846400-209848800	Enhancers	Spleen	Spleen
3	chr1:209846600-209848600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
4	chr1:209847000-209850000	Flanking Active TSS	Adipose Nuclei	Adipose
5	chr1:209847200-209848800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:209847400-209848600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
7	chr1:209847400-209850000	Flanking Active TSS	Duodenum Mucosa	Duodenum
8	chr1:209847400-209850600	Flanking Active TSS	Liver	Liver
9	chr1:209847600-209848600	Flanking Active TSS	Stomach Smooth Muscle	stomach
10	chr1:209847600-209848600	Flanking Active TSS	K562	blood
11	chr1:209847600-209849200	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
12	chr1:209847600-209849600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr1:209847600-209850000	Active TSS	Rectal Smooth Muscle	rectum
14	chr1:209847800-209848600	Weak transcription	Small Intestine	intestine
15	chr1:209847800-209849400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
16	chr1:209847800-209850200	Active TSS	Psoas Muscle	Psoas
17	chr1:209848000-209849000	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:209848000-209849400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
19	chr1:209848000-209849400	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr1:209848000-209849600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
21	chr1:209848000-209849600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
22	chr1:209848000-209849800	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr1:209848000-209849800	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr1:209848200-209848600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:209848200-209848600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
26	chr1:209848200-209848600	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr1:209848200-209848600	Flanking Active TSS	Brain Hippocampus Middle	brain
28	chr1:209848200-209848600	Flanking Active TSS	Colonic Mucosa	Colon
29	chr1:209848200-209848600	Flanking Active TSS	Fetal Intestine Small	intestine
30	chr1:209848200-209848600	Flanking Active TSS	Right Ventricle	heart
31	chr1:209848200-209848600	Flanking Active TSS	NHLF	lung
32	chr1:209848200-209848800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr1:209848200-209848800	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:209848200-209849000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
35	chr1:209848200-209849000	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
36	chr1:209848200-209849000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:209848200-209849000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
38	chr1:209848200-209849000	Active TSS	Fetal Lung	lung
39	chr1:209848200-209849200	Bivalent/Poised TSS	Fetal Brain Female	brain
40	chr1:209848200-209849400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
41	chr1:209848200-209849400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr1:209848200-209849400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
43	chr1:209848200-209849400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
44	chr1:209848200-209849400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
45	chr1:209848200-209849400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
46	chr1:209848200-209849400	Active TSS	Fetal Kidney	kidney
47	chr1:209848200-209849400	Flanking Active TSS	Stomach Mucosa	stomach
48	chr1:209848200-209849400	Bivalent/Poised TSS	A549	lung
49	chr1:209848200-209849400	Flanking Active TSS	HMEC	breast
50	chr1:209848200-209849600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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