Variant report

Variant	rs7120158
Chromosome Location	chr11:47265194-47265195
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:82)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:82 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR3C1	chr11:47264971-47265333	A549	lung:	n/a	chr11:47265309-47265323
2	POLR2A	chr11:47263395-47265418	H1-hESC	embryonic stem cell:	n/a	n/a
3	MBD4	chr11:47264921-47265361	HepG2	liver:	n/a	n/a
4	RXRA	chr11:47264949-47265284	HepG2	liver:	n/a	n/a
5	POLR2A	chr11:47264616-47265305	GM12878	blood:	n/a	n/a
6	MXI1	chr11:47264657-47265313	IMR90	lung:	n/a	n/a
7	SIN3AK20	chr11:47264664-47265660	MCF-7	breast:	n/a	n/a
8	EP300	chr11:47264879-47265366	HepG2	liver:	n/a	n/a
9	MYC	chr11:47265133-47265262	HepG2	liver:	n/a	n/a
10	BHLHE40	chr11:47265008-47265274	HepG2	liver:	n/a	n/a
11	POLR2A	chr11:47263109-47265248	GM12878	blood:	n/a	n/a
12	NFIC	chr11:47264983-47265379	HepG2	liver:	n/a	n/a
13	ESR1	chr11:47264959-47265372	T-47D	breast:	n/a	n/a
14	SP1	chr11:47264933-47265249	HepG2	liver:	n/a	n/a
15	GATA3	chr11:47264879-47265529	MCF-7	breast:	n/a	n/a
16	CEBPB	chr11:47264854-47265389	MCF-7	breast:	n/a	n/a
17	POLR2A	chr11:47264520-47265284	K562	blood:	n/a	n/a
18	TCF12	chr11:47264750-47265530	A549	lung:	n/a	chr11:47265123-47265132
19	POLR2A	chr11:47262326-47265313	GM12891	blood:	n/a	n/a
20	SIN3AK20	chr11:47264964-47265276	HepG2	liver:	n/a	n/a
21	POLR2A	chr11:47264940-47265290	U87	brain:	n/a	n/a
22	TEAD4	chr11:47264912-47265414	HepG2	liver:	n/a	n/a
23	CEBPB	chr11:47264961-47265361	HepG2	liver:	n/a	n/a
24	FOXA1	chr11:47264837-47265375	HepG2	liver:	n/a	chr11:47265118-47265133 chr11:47265172-47265187
25	SP1	chr11:47264897-47265426	A549	lung:	n/a	n/a
26	MAX	chr11:47264794-47265489	MCF-7	breast:	n/a	n/a
27	MAZ	chr11:47265074-47265274	HepG2	liver:	n/a	n/a
28	FOXA1	chr11:47264922-47265386	T-47D	breast:	n/a	chr11:47265118-47265133 chr11:47265172-47265187
29	CEBPB	chr11:47264988-47265317	HepG2	liver:	n/a	n/a
30	MYC	chr11:47265188-47265274	MCF-7	breast:	n/a	n/a
31	MYBL2	chr11:47264829-47265347	HepG2	liver:	n/a	n/a
32	GATA3	chr11:47264824-47265412	A549	lung:	n/a	n/a
33	CEBPB	chr11:47265008-47265362	HepG2	liver:	n/a	n/a
34	GATA3	chr11:47264820-47265443	MCF-7	breast:	n/a	n/a
35	FOXA1	chr11:47264857-47265378	HepG2	liver:	n/a	chr11:47265118-47265133 chr11:47265172-47265187
36	MAX	chr11:47264877-47265499	HepG2	liver:	n/a	n/a
37	FOXA1	chr11:47264805-47265417	HepG2	liver:	n/a	chr11:47265118-47265133 chr11:47265172-47265187
38	MAX	chr11:47265007-47265412	MCF-7	breast:	n/a	n/a
39	ARID3A	chr11:47265021-47265251	HepG2	liver:	n/a	n/a
40	GATA3	chr11:47264865-47265359	T-47D	breast:	n/a	n/a
41	CEBPB	chr11:47264817-47265504	MCF-7	breast:	n/a	n/a
42	NFIC	chr11:47264997-47265401	HepG2	liver:	n/a	n/a
43	SIN3AK20	chr11:47264910-47265518	MCF-7	breast:	n/a	n/a
44	MYBL2	chr11:47264894-47265337	HepG2	liver:	n/a	n/a
45	FOXA1	chr11:47264899-47265446	HepG2	liver:	n/a	chr11:47265118-47265133 chr11:47265172-47265187
46	POLR2A	chr11:47264940-47265340	U87	brain:	n/a	n/a
47	CEBPB	chr11:47264851-47265438	A549	lung:	n/a	n/a
48	FOXA2	chr11:47264786-47265415	A549	lung:	n/a	n/a
49	POLR2A	chr11:47265151-47265395	ECC-1	luminal epithelium:	n/a	n/a
50	MAX	chr11:47264890-47265505	A549	lung:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:47236414..47239398-chr11:47265054..47267561,5	K562	blood:
2	chr11:47205996..47209414-chr11:47263017..47267262,4	MCF-7	breast:
3	chr11:47205951..47209206-chr11:47263141..47266160,3	MCF-7	breast:
4	chr11:47264797..47267629-chr11:47289343..47292246,3	K562	blood:
5	chr11:47263774..47268457-chr11:47268937..47272422,6	MCF-7	breast:
6	chr11:47263865..47272320-chr11:47288426..47294726,14	MCF-7	breast:
7	chr11:47265054..47272453-chr11:47272862..47282933,17	MCF-7	breast:
8	chr11:47210760..47211699-chr11:47264854..47265597,2	MCF-7	breast:
9	chr11:47264727..47266306-chr11:47280070..47281666,2	K562	blood:
10	chr11:47263878..47266092-chr11:47289998..47293259,3	K562	blood:
11	chr11:47236127..47238090-chr11:47263739..47266462,2	MCF-7	breast:

No data

Variant related genes	Relation type
NR1H3	TF binding region
ENSG00000025434	Chromatin interaction
ENSG00000134575	Chromatin interaction
ENSG00000165912	Chromatin interaction
ENSG00000110514	Chromatin interaction
ENSG00000134574	Chromatin interaction
ENSG00000256746	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 5 )

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

rs_ID	r²[population]
rs1051006	0.80[AMR][1000 genomes]
rs10838681	0.83[YRI][hapmap];0.88[AFR][1000 genomes]
rs10838685	0.81[EUR][1000 genomes]
rs10838687	0.86[YRI][hapmap]
rs11039144	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11039148	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11039155	0.87[EUR][1000 genomes]
rs12574081	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1449626	0.80[AMR][1000 genomes]
rs16938581	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2242261	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2242262	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2279238	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2290146	0.89[YRI][hapmap]
rs2290148	0.89[YRI][hapmap]
rs2306353	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2596397	0.89[AMR][1000 genomes]
rs2596398	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2633080	0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2633083	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2957873	0.82[CHB][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs326224	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3758670	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3781619	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3781620	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3824866	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4647725	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4647726	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4647737	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4647741	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4647754	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4647757	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs4752972	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4752973	0.86[CHB][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4752977	0.93[YRI][hapmap];0.81[AMR][1000 genomes]
rs4752983	0.86[YRI][hapmap]
rs59567949	0.80[AMR][1000 genomes]
rs7118396	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7124958	0.90[YRI][hapmap]
rs7395496	0.86[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7933246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7947269	0.83[AMR][1000 genomes]
rs830083	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs830084	0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[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	nsv897323	chr11:47182926-47460306	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv917316	chr11:47232210-47448882	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7120158	ACP2	cis	Thyroid	GTEx
rs7120158	DDB2	Cis_1M	lymphoblastoid	RTeQTL
rs7120158	ACP2	Cis_1M	lymphoblastoid	RTeQTL
rs7120158	ACP2	cis	multi-tissue	Pritchard
rs7120158	NR1H3	cis	multi-tissue	Pritchard

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47238400-47269400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:47240200-47266600	Weak transcription	Fetal Brain Male	brain
3	chr11:47242400-47269200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr11:47243600-47269200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr11:47246600-47267800	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr11:47247400-47267600	Strong transcription	Thymus	Thymus
7	chr11:47248200-47265200	Strong transcription	GM12878-XiMat	blood
8	chr11:47254600-47267800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr11:47255400-47269200	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr11:47255600-47268800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr11:47255800-47267600	Strong transcription	H1 Cell Line	embryonic stem cell
12	chr11:47256000-47268000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:47256200-47267800	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr11:47256400-47267800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr11:47256800-47268800	Strong transcription	Fetal Thymus	thymus
16	chr11:47257800-47267800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr11:47257800-47268000	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr11:47258000-47269000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:47258200-47267600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr11:47258400-47266400	Strong transcription	Fetal Intestine Large	intestine
21	chr11:47258400-47267800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr11:47258400-47268400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr11:47258600-47265200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr11:47258600-47267800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr11:47258600-47267800	Strong transcription	Rectal Smooth Muscle	rectum
26	chr11:47258600-47268800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr11:47258800-47267400	Strong transcription	Colon Smooth Muscle	Colon
28	chr11:47258800-47268000	Strong transcription	NHEK	skin
29	chr11:47259000-47268200	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr11:47259000-47268800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr11:47259000-47269000	Strong transcription	Fetal Stomach	stomach
32	chr11:47259200-47268000	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr11:47259400-47265200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr11:47259400-47265600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr11:47259400-47266400	Strong transcription	Spleen	Spleen
36	chr11:47259400-47267400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr11:47259400-47267600	Strong transcription	Duodenum Mucosa	Duodenum
38	chr11:47259400-47267600	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr11:47259400-47267600	Strong transcription	Fetal Lung	lung
40	chr11:47259400-47267600	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr11:47259400-47267800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr11:47259400-47267800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr11:47259400-47267800	Strong transcription	Primary T cells from cord blood	blood
44	chr11:47259400-47267800	Strong transcription	Primary hematopoietic stem cells	blood
45	chr11:47259400-47267800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr11:47259400-47267800	Strong transcription	Gastric	stomach
47	chr11:47259400-47268000	Strong transcription	Brain Anterior Caudate	brain
48	chr11:47259400-47268000	Strong transcription	Stomach Smooth Muscle	stomach
49	chr11:47259400-47268800	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr11:47259400-47268800	Strong transcription	Monocytes-CD14+_RO01746	blood

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