Variant report

Variant	rs7111384
Chromosome Location	chr11:33037164-33037165
allele	C/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	CBX3	chr11:33037082-33037645	K562	blood:	n/a	n/a
2	POLR2A	chr11:33037103-33037650	K562	blood:	n/a	n/a
3	TCF12	chr11:33037137-33037724	ECC-1	luminal epithelium:	n/a	n/a
4	RCOR1	chr11:33037122-33037969	K562	blood:	n/a	n/a
5	E2F6	chr11:33037059-33038144	H1-hESC	embryonic stem cell:	n/a	chr11:33037338-33037348 chr11:33037396-33037406 chr11:33037392-33037401
6	POLR2A	chr11:33037114-33037973	GM18951	blood:	n/a	n/a
7	SMC3	chr11:33037116-33038189	Hela-S3	cervix:	n/a	n/a
8	TBP	chr11:33037106-33037622	Hela-S3	cervix:	n/a	n/a
9	CBX3	chr11:33037124-33037471	K562	blood:	n/a	n/a
10	POLR2A	chr11:33036532-33037835	HepG2	liver:	n/a	n/a
11	POLR2A	chr11:33037092-33037704	A549	lung:	n/a	n/a
12	MXI1	chr11:33037126-33038047	HepG2	liver:	n/a	chr11:33037364-33037379
13	POLR2A	chr11:33036992-33037958	PFSK-1	brain:	n/a	n/a
14	HEY1	chr11:33037086-33037631	HepG2	liver:	n/a	chr11:33037387-33037402
15	POLR2A	chr11:33037131-33037672	A549	lung:	n/a	n/a
16	REST	chr11:33037099-33037614	HepG2	liver:	n/a	n/a
17	POLR2A	chr11:33037090-33037616	PANC-1	pancreas:	n/a	n/a
18	TCF12	chr11:33037098-33037614	ECC-1	luminal epithelium:	n/a	n/a
19	MAX	chr11:33037136-33038059	A549	lung:	n/a	chr11:33037374-33037385 chr11:33037375-33037384 chr11:33037865-33037881 chr11:33037375-33037384 chr11:33037370-33037389
20	SP1	chr11:33037082-33037628	A549	lung:	n/a	chr11:33037393-33037402 chr11:33037392-33037402 chr11:33037392-33037401 chr11:33037412-33037422 chr11:33037392-33037402 chr11:33037393-33037402 chr11:33037391-33037403 chr11:33037391-33037403
21	POLR2A	chr11:33037070-33038049	HepG2	liver:	n/a	n/a
22	USF1	chr11:33037112-33037610	A549	lung:	n/a	chr11:33037374-33037385 chr11:33037385-33037401
23	TAF1	chr11:33037058-33038018	HepG2	liver:	n/a	n/a
24	POLR2A	chr11:33037083-33037616	SK-N-SH	brain:	n/a	n/a
25	MAX	chr11:33037128-33038020	K562	blood:	n/a	chr11:33037374-33037385 chr11:33037375-33037384 chr11:33037865-33037881 chr11:33037375-33037384 chr11:33037370-33037389
26	MAX	chr11:33037095-33038181	ECC-1	luminal epithelium:	n/a	chr11:33037374-33037385 chr11:33037375-33037384 chr11:33037865-33037881 chr11:33037375-33037384 chr11:33037370-33037389
27	E2F6	chr11:33037074-33038079	K562	blood:	n/a	chr11:33037338-33037348 chr11:33037396-33037406 chr11:33037392-33037401
28	USF1	chr11:33037099-33037624	A549	lung:	n/a	chr11:33037374-33037385 chr11:33037385-33037401
29	E2F6	chr11:33037057-33038327	A549	lung:	n/a	chr11:33037338-33037348 chr11:33037396-33037406 chr11:33037392-33037401
30	POLR2A	chr11:33037083-33037910	K562	blood:	n/a	n/a
31	POLR2A	chr11:33037086-33037667	K562	blood:	n/a	n/a
32	POLR2A	chr11:33037085-33037856	ECC-1	luminal epithelium:	n/a	n/a
33	USF1	chr11:33037141-33037899	H1-hESC	embryonic stem cell:	n/a	chr11:33037374-33037385 chr11:33037385-33037401
34	POLR2A	chr11:33037040-33038205	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr11:33037164-33037573	H1-hESC	embryonic stem cell:	n/a	n/a
36	MAX	chr11:33037097-33038133	HCT-116	colon:	n/a	chr11:33037374-33037385 chr11:33037375-33037384 chr11:33037865-33037881 chr11:33037375-33037384 chr11:33037370-33037389
37	POLR2A	chr11:33037129-33038126	IMR90	lung:	n/a	n/a
38	USF1	chr11:33037117-33037626	SK-N-SH_RA	brain:	n/a	chr11:33037374-33037385 chr11:33037385-33037401
39	USF1	chr11:33037096-33037740	ECC-1	luminal epithelium:	n/a	chr11:33037374-33037385 chr11:33037385-33037401
40	MAX	chr11:33037096-33037527	MCF-7	breast:	n/a	chr11:33037374-33037385 chr11:33037375-33037384 chr11:33037375-33037384 chr11:33037370-33037389
41	NFIC	chr11:33037104-33037681	ECC-1	luminal epithelium:	n/a	n/a
42	MAX	chr11:33037101-33038192	H1-hESC	embryonic stem cell:	n/a	chr11:33037374-33037385 chr11:33037375-33037384 chr11:33037865-33037881 chr11:33037375-33037384 chr11:33037370-33037389
43	CHD2	chr11:33037140-33037505	HepG2	liver:	n/a	n/a
44	MAX	chr11:33037068-33038013	H1-hESC	embryonic stem cell:	n/a	chr11:33037374-33037385 chr11:33037375-33037384 chr11:33037865-33037881 chr11:33037375-33037384 chr11:33037370-33037389
45	POLR2A	chr11:33037080-33037677	PANC-1	pancreas:	n/a	n/a
46	HMGN3	chr11:33037103-33038028	K562	blood:	n/a	n/a
47	USF1	chr11:33037037-33038099	HCT-116	colon:	n/a	chr11:33037374-33037385 chr11:33037385-33037401
48	POLR2A	chr11:33036988-33037783	SK-N-MC	brain:	n/a	n/a
49	POLR2A	chr11:33037160-33038048	HL-60	blood:	n/a	n/a
50	TAF1	chr11:33037118-33037594	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:33035321..33039472-chr11:33059106..33064085,11	K562	blood:
2	chr11:33035752..33039107-chr11:33059295..33062622,5	K562	blood:
3	chr11:33036802..33037655-chr5:61699205..61699998,2	Hela-S3	cervix:
4	chr11:32912742..32915744-chr11:33035300..33038153,5	K562	blood:
5	chr11:33035440..33037281-chr11:33038611..33040663,2	K562	blood:

Variant related genes	Relation type
DEPDC7	TF binding region
ENSG00000176148	Chromatin interaction
ENSG00000086189	Chromatin interaction
ENSG00000086200	Chromatin interaction
ENSG00000060749	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10767982	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10836010	0.93[EUR][1000 genomes]
rs10836013	0.91[EUR][1000 genomes]
rs10836015	0.91[EUR][1000 genomes]
rs10836017	0.91[EUR][1000 genomes]
rs11032110	0.91[EUR][1000 genomes]
rs11032111	0.91[EUR][1000 genomes]
rs11032134	0.88[EUR][1000 genomes]
rs11032143	0.88[EUR][1000 genomes]
rs11826269	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12360973	0.88[EUR][1000 genomes]
rs12365424	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2024968	0.89[EUR][1000 genomes]
rs2145299	0.89[EUR][1000 genomes]
rs2273538	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2273547	0.89[EUR][1000 genomes]
rs2273550	0.88[EUR][1000 genomes]
rs2900825	0.87[EUR][1000 genomes]
rs3758742	0.89[EUR][1000 genomes]
rs4397819	0.88[EUR][1000 genomes]
rs4755351	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4755485	0.91[EUR][1000 genomes]
rs4756563	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758262	chr11:32714643-33049940	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	esv2759815	chr11:32714643-33049940	Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
3	esv2753057	chr11:32796124-33061724	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
4	esv2753743	chr11:32796124-33084924	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
5	nsv1040484	chr11:32951066-33093204	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv1046198	chr11:32954100-33075142	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	esv2762904	chr11:32969258-33586535	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
8	nsv1041149	chr11:32981164-33496670	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	nsv1053823	chr11:32981164-33533356	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
10	nsv897194	chr11:32993887-33471804	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
11	nsv1040572	chr11:33008191-33518964	Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
12	nsv540989	chr11:33008191-33518964	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
13	nsv1042860	chr11:33008191-33562490	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
14	nsv540990	chr11:33008191-33562490	Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
15	nsv533840	chr11:33008192-33595324	Bivalent Enhancer Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
16	nsv1051521	chr11:33008435-33239765	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
17	nsv540991	chr11:33008435-33239765	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
18	nsv1044478	chr11:33008435-33656273	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
19	nsv897195	chr11:33012493-33559186	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
20	nsv983180	chr11:33026769-33041930	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
21	nsv1053344	chr11:33028973-33499346	Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7111384	TCP11L1	cis	Whole Blood	GTEx

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33034000-33037200	Weak transcription	NHLF	lung
2	chr11:33034000-33037400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr11:33034200-33037200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr11:33034200-33037200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr11:33034200-33037200	Weak transcription	GM12878-XiMat	blood
6	chr11:33034200-33037200	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr11:33034200-33037400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:33034400-33037200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr11:33034400-33037200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr11:33034400-33037400	Weak transcription	Primary T cells from cord blood	blood
11	chr11:33034400-33037400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr11:33035600-33037200	Weak transcription	A549	lung
13	chr11:33036400-33037400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr11:33036400-33037800	Active TSS	HepG2	liver
15	chr11:33036600-33037800	Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr11:33036600-33038200	Active TSS	K562	blood
17	chr11:33036800-33038000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr11:33036800-33039400	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr11:33037000-33037200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr11:33037000-33037200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
21	chr11:33037000-33037200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr11:33037000-33037200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
23	chr11:33037000-33037200	Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr11:33037000-33037200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr11:33037000-33037200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr11:33037000-33037200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
27	chr11:33037000-33037200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr11:33037000-33037200	Flanking Active TSS	Duodenum Mucosa	Duodenum
29	chr11:33037000-33037200	Flanking Active TSS	Fetal Intestine Large	intestine
30	chr11:33037000-33037200	Flanking Active TSS	Fetal Intestine Small	intestine
31	chr11:33037000-33037200	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
32	chr11:33037000-33037200	Active TSS	Fetal Muscle Leg	muscle
33	chr11:33037000-33037200	Bivalent Enhancer	Placenta	Placenta
34	chr11:33037000-33037200	Bivalent Enhancer	Fetal Thymus	thymus
35	chr11:33037000-33037200	Enhancers	Lung	lung
36	chr11:33037000-33037200	Genic enhancers	Right Atrium	heart
37	chr11:33037000-33037200	Active TSS	Stomach Smooth Muscle	stomach
38	chr11:33037000-33037400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr11:33037000-33037400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
40	chr11:33037000-33037400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
41	chr11:33037000-33037400	Active TSS	Pancreas	Pancrea
42	chr11:33037000-33037400	Enhancers	Spleen	Spleen
43	chr11:33037000-33037600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr11:33037000-33037600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
45	chr11:33037000-33037600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
46	chr11:33037000-33037600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr11:33037000-33037800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr11:33037000-33037800	Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr11:33037000-33037800	Active TSS	Primary neutrophils fromperipheralblood	blood
50	chr11:33037000-33037800	Active TSS	Primary T helper cells PMA-I stimulated	--

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