Variant report

Variant	rs7118396
Chromosome Location	chr11:47269936-47269937
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:153)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:153 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAF1	chr11:47269903-47270910	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr11:47269583-47271233	H1-hESC	embryonic stem cell:	n/a	n/a
3	GABPA	chr11:47269863-47270975	A549	lung:	n/a	n/a
4	POLR2A	chr11:47269910-47270955	H1-hESC	embryonic stem cell:	n/a	n/a
5	RELA	chr11:47269835-47270875	GM19099	blood:	n/a	n/a
6	YY1	chr11:47269842-47271339	SK-N-SH	brain:	n/a	chr11:47270443-47270453 chr11:47270444-47270452 chr11:47270443-47270465
7	GABPA	chr11:47269874-47271019	HL-60	blood:	n/a	n/a
8	RUNX3	chr11:47269604-47270861	GM12878	blood:	n/a	n/a
9	POLR2A	chr11:47269519-47270923	GM12892	blood:	n/a	n/a
10	POLR2A	chr11:47269890-47270855	H1-hESC	embryonic stem cell:	n/a	n/a
11	IRF4	chr11:47269674-47270890	GM12878	blood:	n/a	n/a
12	SPI1	chr11:47269796-47270044	GM12878	blood:	n/a	n/a
13	TBL1XR1	chr11:47269928-47270815	K562	blood:	n/a	n/a
14	YY1	chr11:47269914-47271109	A549	lung:	n/a	chr11:47270443-47270453 chr11:47270444-47270452 chr11:47270443-47270465
15	REST	chr11:47269917-47270863	HL-60	blood:	n/a	n/a
16	POLR2A	chr11:47269883-47270924	K562	blood:	n/a	n/a
17	NFATC1	chr11:47269794-47271010	GM12878	blood:	n/a	n/a
18	GABPA	chr11:47269700-47271286	MCF-7	breast:	n/a	n/a
19	PML	chr11:47269684-47270937	K562	blood:	n/a	n/a
20	YY1	chr11:47269886-47271088	GM12878	blood:	n/a	chr11:47270443-47270453 chr11:47270444-47270452 chr11:47270443-47270465
21	MTA3	chr11:47269615-47271184	GM12878	blood:	n/a	n/a
22	MYC	chr11:47269887-47270920	K562	blood:	n/a	n/a
23	POLR2A	chr11:47269573-47270930	GM12891	blood:	n/a	n/a
24	POLR2A	chr11:47269872-47270923	HL-60	blood:	n/a	n/a
25	POLR2A	chr11:47269809-47270835	MCF10A-Er-Src	breast:	n/a	n/a
26	WRNIP1	chr11:47269632-47271071	GM12878	blood:	n/a	n/a
27	POLR2A	chr11:47269857-47270943	Hela-S3	cervix:	n/a	n/a
28	TAL1	chr11:47269765-47270930	K562	blood:	n/a	chr11:47270133-47270144 chr11:47270131-47270142 chr11:47269954-47269972
29	SIN3A	chr11:47269936-47271176	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr11:47269888-47270914	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr11:47269730-47270907	GM12891	blood:	n/a	n/a
32	POLR2A	chr11:47269600-47271223	PFSK-1	brain:	n/a	n/a
33	POLR2A	chr11:47269925-47270947	GM12878	blood:	n/a	n/a
34	POLR2A	chr11:47269809-47271022	GM12878	blood:	n/a	n/a
35	POLR2A	chr11:47269922-47270979	H1-hESC	embryonic stem cell:	n/a	n/a
36	CHD1	chr11:47269694-47271051	IMR90	lung:	n/a	n/a
37	JUN	chr11:47269740-47271436	K562	blood:	n/a	n/a
38	POLR2A	chr11:47269829-47271002	GM12892	blood:	n/a	n/a
39	ZNF263	chr11:47269788-47270903	HEK293-T-REx	kidney:	n/a	chr11:47270285-47270306
40	POLR2A	chr11:47269643-47271255	HepG2	liver:	n/a	n/a
41	POLR2A	chr11:47269818-47270857	K562	blood:	n/a	n/a
42	HCFC1	chr11:47268991-47271448	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr11:47269861-47271027	PBDE	blood:	n/a	n/a
44	POLR2A	chr11:47269723-47271156	K562	blood:	n/a	n/a
45	POLR2A	chr11:47269812-47270868	GM12891	blood:	n/a	n/a
46	SIX5	chr11:47269676-47271084	A549	lung:	n/a	n/a
47	GATA1	chr11:47269573-47270820	PBDE	blood:	n/a	chr11:47269963-47269972 chr11:47269954-47269971 chr11:47269700-47269708
48	POLR2A	chr11:47269649-47270993	Hela-S3	cervix:	n/a	n/a
49	NFIC	chr11:47269731-47270877	GM12878	blood:	n/a	n/a
50	BHLHE40	chr11:47269864-47270796	GM12878	blood:	n/a	n/a

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:47197588..47201043-chr11:47267472..47270431,4	MCF-7	breast:
2	chr11:47269882..47270660-chr17:34957469..34958209,2	NB4	blood:
3	chr11:47268496..47273681-chr11:47277782..47283365,10	K562	blood:
4	chr11:47234882..47238296-chr11:47268822..47272499,5	MCF-7	breast:
5	chr11:47267134..47271941-chr11:47277592..47282899,11	MCF-7	breast:
6	chr11:47268303..47273264-chr11:47289525..47294481,12	K562	blood:
7	chr11:47269451..47271860-chr11:47428590..47432270,5	K562	blood:
8	chr11:47263865..47272320-chr11:47288426..47294726,14	MCF-7	breast:
9	chr11:47265054..47272453-chr11:47272862..47282933,17	MCF-7	breast:
10	chr11:47267881..47272421-chr11:47288787..47294481,12	K562	blood:
11	chr11:47197356..47201056-chr11:47268366..47272336,6	MCF-7	breast:
12	chr11:47269466..47270438-chr3:64008886..64009704,2	MCF-7	breast:
13	chr11:47263774..47268457-chr11:47268937..47272422,6	MCF-7	breast:
14	chr11:47235800..47238158-chr11:47268993..47270943,3	MCF-7	breast:
15	chr11:47269329..47270011-chr5:138533529..138534197,2	Hela-S3	cervix:
16	chr11:47205635..47209843-chr11:47268961..47271979,7	MCF-7	breast:
17	chr11:47268938..47272778-chr11:47288986..47293565,7	MCF-7	breast:
18	chr11:47269904..47270432-chr6:30712073..30712705,2	HCT-116	colon:

No data

Variant related genes	Relation type
NR1H3	TF binding region
ACP2	TF binding region
ENSG00000134575	Chromatin interaction
ENSG00000120725	Chromatin interaction
ENSG00000137331	Chromatin interaction
ENSG00000255197	Chromatin interaction
ENSG00000163636	Chromatin interaction
ENSG00000134574	Chromatin interaction
ENSG00000165915	Chromatin interaction
ENSG00000025434	Chromatin interaction
ENSG00000165912	Chromatin interaction
ENSG00000129282	Chromatin interaction
ENSG00000256746	Chromatin interaction
ENSG00000149182	Chromatin interaction
ENSG00000110514	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs1051006	0.93[ASW][hapmap];0.80[CEU][hapmap];0.81[CHD][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.88[TSI][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1052373	0.82[MEX][hapmap]
rs10742797	0.81[JPT][hapmap]
rs10769253	0.80[CEU][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap]
rs10769255	0.87[GIH][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap]
rs10838663	1.00[CEU][hapmap]
rs10838681	0.86[MEX][hapmap]
rs10838685	0.82[EUR][1000 genomes]
rs10838686	0.82[YRI][hapmap];0.81[EUR][1000 genomes]
rs10838687	0.88[ASW][hapmap];0.95[MEX][hapmap]
rs10838689	0.81[ASW][hapmap];0.80[CEU][hapmap];0.93[GIH][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.94[TSI][hapmap];0.80[EUR][1000 genomes]
rs10838692	0.82[MEX][hapmap]
rs11039144	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11039148	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11039155	0.87[EUR][1000 genomes]
rs11493249	0.81[EUR][1000 genomes]
rs12574081	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12574410	1.00[CEU][hapmap]
rs1449626	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1449627	0.82[MEX][hapmap]
rs16938581	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2242261	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.94[TSI][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]
rs2242262	1.00[CEU][hapmap];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]
rs2279238	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2290146	0.94[ASW][hapmap];0.81[CHD][hapmap];0.87[GIH][hapmap];0.95[MEX][hapmap];0.83[TSI][hapmap]
rs2290148	0.94[ASW][hapmap];0.80[CEU][hapmap];0.81[CHD][hapmap];0.90[GIH][hapmap];0.95[MEX][hapmap];0.88[TSI][hapmap]
rs2305280	0.88[ASW][hapmap]
rs2306353	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2596397	0.87[AMR][1000 genomes]
rs2596398	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2633080	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2633083	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2957873	0.94[ASW][hapmap];0.82[CHB][hapmap];0.82[MEX][hapmap];0.83[YRI][hapmap];0.87[AMR][1000 genomes]
rs326224	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3729802	0.85[CEU][hapmap];0.94[YRI][hapmap]
rs3758670	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3781619	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3781620	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3824866	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4647725	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4647726	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4647737	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4647741	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4647754	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4647757	0.93[AMR][1000 genomes]
rs4752965	1.00[CEU][hapmap]
rs4752972	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4752973	0.94[ASW][hapmap];0.86[CHB][hapmap];0.80[CHD][hapmap];1.00[MEX][hapmap];0.83[YRI][hapmap];0.96[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4752977	0.94[ASW][hapmap];0.80[CEU][hapmap];0.81[CHD][hapmap];0.93[GIH][hapmap];0.95[MEX][hapmap];0.88[TSI][hapmap];0.83[YRI][hapmap];0.81[EUR][1000 genomes]
rs4752978	0.80[EUR][1000 genomes]
rs4752983	1.00[ASW][hapmap];0.80[CEU][hapmap];0.81[CHD][hapmap];0.90[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.88[TSI][hapmap];0.96[YRI][hapmap]
rs58023804	0.81[EUR][1000 genomes]
rs59567949	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7120118	0.82[MEX][hapmap]
rs7120158	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]
rs7395496	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs753992	0.80[CEU][hapmap];0.84[GIH][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap]
rs7933246	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7947269	0.82[AMR][1000 genomes]
rs830083	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs830084	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs830085	0.82[MEX][hapmap]

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:7)

SNP	Gene	Cis/trans	Tissue	Source
rs7118396	MADD	cis	lymphoblastoid	seeQTL
rs7118396	ACP2	cis	Thyroid	GTEx
rs7118396	PTPMT1	cis	parietal	SCAN
rs7118396	ACP2	cis	lymphoblastoid	seeQTL
rs7118396	DDB2	cis	lymphoblastoid	seeQTL
rs7118396	ACP2	cis	multi-tissue	Pritchard
rs7118396	NR1H3	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47268600-47270000	Flanking Active TSS	Brain Angular Gyrus	brain
2	chr11:47268600-47270000	Flanking Active TSS	Dnd41	blood
3	chr11:47268800-47270000	Flanking Active TSS	Colon Smooth Muscle	Colon
4	chr11:47268800-47270000	Flanking Active TSS	Hela-S3	cervix
5	chr11:47269000-47270000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
6	chr11:47269000-47270000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr11:47269000-47270000	Flanking Active TSS	Brain Anterior Caudate	brain
8	chr11:47269000-47270000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
9	chr11:47269000-47270200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr11:47269000-47270200	Flanking Active TSS	Osteobl	bone
11	chr11:47269000-47271400	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr11:47269200-47270000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr11:47269200-47270000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
14	chr11:47269200-47270000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr11:47269200-47270000	Flanking Active TSS	Brain Germinal Matrix	brain
16	chr11:47269200-47270000	Flanking Active TSS	Brain Hippocampus Middle	brain
17	chr11:47269200-47270000	Flanking Active TSS	Duodenum Mucosa	Duodenum
18	chr11:47269200-47270000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
19	chr11:47269200-47270000	Flanking Active TSS	Stomach Smooth Muscle	stomach
20	chr11:47269200-47270200	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr11:47269200-47270200	Flanking Active TSS	Adipose Nuclei	Adipose
22	chr11:47269200-47270200	Flanking Active TSS	Liver	Liver
23	chr11:47269200-47271000	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr11:47269200-47271200	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr11:47269200-47271400	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr11:47269200-47271400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr11:47269400-47270000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr11:47269400-47270000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
29	chr11:47269400-47270000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr11:47269400-47270000	Flanking Active TSS	Brain Cingulate Gyrus	brain
31	chr11:47269400-47270000	Flanking Active TSS	Fetal Brain Female	brain
32	chr11:47269400-47270000	Flanking Active TSS	Fetal Muscle Leg	muscle
33	chr11:47269400-47270000	Flanking Active TSS	HUVEC	blood vessel
34	chr11:47269400-47270000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr11:47269400-47270200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
36	chr11:47269400-47270200	Flanking Active TSS	Primary T cells from cord blood	blood
37	chr11:47269400-47270200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
38	chr11:47269400-47270200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
39	chr11:47269400-47270200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr11:47269400-47270200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr11:47269400-47270200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr11:47269400-47270200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
43	chr11:47269400-47271400	Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr11:47269400-47271400	Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr11:47269400-47271400	Active TSS	A549	lung
46	chr11:47269400-47271600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr11:47269600-47270000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
48	chr11:47269600-47270000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr11:47269600-47270000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr11:47269600-47270000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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