Variant report

Variant	rs111425265
Chromosome Location	chr11:45201870-45201871
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:202)
CpG islands
(count:61)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:202 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:45201740-45201890	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr11:45201038-45203556	Hela-S3	cervix:	n/a	n/a
3	CTCF	chr11:45201800-45201950	MCF-7	breast:	n/a	n/a
4	POLR2A	chr11:45201832-45203358	HepG2	liver:	n/a	n/a
5	CTCF	chr11:45201740-45201890	HAc	cerebellar:	n/a	n/a
6	CTCF	chr11:45201780-45201930	AG04450	lung:	n/a	n/a
7	MAZ	chr11:45201260-45203091	Hela-S3	cervix:	n/a	chr11:45202435-45202445 chr11:45202681-45202691 chr11:45201752-45201762
8	CTCF	chr11:45201695-45202010	MCF-7	breast:	n/a	n/a
9	MYC	chr11:45201780-45201951	MCF-7	breast:	n/a	n/a
10	CTCF	chr11:45201800-45201950	AoAF	blood vessel:	n/a	n/a
11	CTCF	chr11:45201760-45201910	NHEK	skin:	n/a	n/a
12	ESR1	chr11:45201426-45202239	ECC-1	luminal epithelium:	n/a	n/a
13	CTCF	chr11:45201740-45201890	HCPEpiC	choroid plexus:	n/a	n/a
14	POLR2A	chr11:45201840-45202822	IMR90	lung:	n/a	n/a
15	POLR2A	chr11:45201669-45202950	Hela-S3	cervix:	n/a	n/a
16	HA-E2F1	chr11:45201670-45202928	Hela-S3	cervix:	n/a	chr11:45201841-45201851 chr11:45202410-45202419 chr11:45202132-45202141 chr11:45202479-45202489
17	CTCF	chr11:45201760-45201910	AG09319	gingival:	n/a	n/a
18	TCF7L2	chr11:45201567-45202918	HCT-116	colon:	n/a	n/a
19	CTCF	chr11:45201677-45202000	IMR90	lung:	n/a	n/a
20	TCF7L2	chr11:45201561-45201985	PANC-1	pancreas:	n/a	n/a
21	CTCF	chr11:45201760-45201910	HCT-116	colon:	n/a	n/a
22	CTCF	chr11:45201740-45201890	HPF	lung:	n/a	n/a
23	CTCF	chr11:45201714-45201935	Hela-S3	cervix:	n/a	n/a
24	CTCF	chr11:45201720-45201870	Hela-S3	cervix:	n/a	n/a
25	CEBPB	chr11:45201782-45202139	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr11:45201716-45201894	HepG2	liver:	n/a	n/a
27	MXI1	chr11:45201855-45202048	HepG2	liver:	n/a	n/a
28	CTCF	chr11:45201706-45201993	NHEK	skin:	n/a	n/a
29	RFX5	chr11:45201310-45202123	Hela-S3	cervix:	n/a	n/a
30	CTCF	chr11:45201720-45201870	AG09319	gingival:	n/a	n/a
31	POLR2A	chr11:45201729-45202799	MCF10A-Er-Src	breast:	n/a	n/a
32	CTCF	chr11:45201711-45201966	MCF-7	breast:	n/a	n/a
33	CTCF	chr11:45201732-45201937	H1-hESC	embryonic stem cell:	n/a	n/a
34	ESR1	chr11:45201531-45202001	ECC-1	luminal epithelium:	n/a	n/a
35	CTCF	chr11:45201740-45201890	HPAF	blood vessel:	n/a	n/a
36	CTCF	chr11:45201740-45201890	AG04450	lung:	n/a	n/a
37	CTCF	chr11:45201780-45201930	HCM	heart:	n/a	n/a
38	CTCF	chr11:45201820-45201970	NB4	blood:	n/a	n/a
39	POLR2A	chr11:45201655-45202731	MCF-7	breast:	n/a	n/a
40	CTCF	chr11:45201720-45201870	HEEpiC	esophagus:	n/a	n/a
41	CTCF	chr11:45201720-45201870	HRE	kidney:	n/a	n/a
42	CTCF	chr11:45201760-45201910	SK-N-SH_RA	brain:	n/a	n/a
43	CTCF	chr11:45201760-45201910	HMF	breast:	n/a	n/a
44	ESR1	chr11:45201572-45202111	ECC-1	luminal epithelium:	n/a	n/a
45	POLR2A	chr11:45201346-45202987	PBDE	blood:	n/a	n/a
46	MYC	chr11:45201815-45202177	MCF10A-Er-Src	breast:	n/a	n/a
47	ESR1	chr11:45201508-45202246	ECC-1	luminal epithelium:	n/a	n/a
48	CTCF	chr11:45201840-45201990	GM12866	blood:	n/a	n/a
49	CTCF	chr11:45201778-45201880	GM19239	blood:	n/a	n/a
50	CTCF	chr11:45201740-45201890	GM12865	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:45201855-45201905	MCF-7	breast:	n/a
2	chr11:45201855-45201905	GM06990	blood:	n/a
3	chr11:45201855-45201905	HAEpiC	amniotic membrane:	n/a
4	chr11:45201855-45201905	T-47D	breast:	n/a
5	chr11:45201855-45201905	HCF	heart:	n/a
6	chr11:45201855-45201905	GM19239	blood:	n/a
7	chr11:45201855-45201905	NH-A	brain:	n/a
8	chr11:45201855-45201905	NHDF-neo	bronchial:	n/a
9	chr11:45201855-45201905	PrEC	prostate:	n/a
10	chr11:45201855-45201905	NT2-D1	testis:	n/a
11	chr11:45201855-45201905	NB4	blood:	n/a
12	chr11:45201855-45201905	K562	blood:	n/a
13	chr11:45201855-45201905	HNPCEpiC	eye:	n/a
14	chr11:45201855-45201905	HCPEpiC	choroid plexus:	n/a
15	chr11:45201855-45201905	AG09319	gingival:	n/a
16	chr11:45201855-45201905	AG04449	skin:	fetal
17	chr11:45201855-45201905	ECC-1	luminal epithelium:	n/a
18	chr11:45201855-45201905	GM12878	blood:	n/a
19	chr11:45201855-45201905	GM12891	blood:	n/a
20	chr11:45201855-45201905	LNCaP	prostate:	n/a
21	chr11:45201855-45201905	HEK293	kidney:	embryo
22	chr11:45201855-45201905	PFSK-1	brain:	n/a
23	chr11:45201855-45201905	Hepatocyte	liver:	n/a
24	chr11:45201855-45201905	HIPEpiC	eye:	n/a
25	chr11:45201855-45201905	Hela-S3	cervix:	n/a
26	chr11:45201855-45201905	HepG2	liver:	n/a
27	chr11:45201855-45201905	HL-60	blood:	n/a
28	chr11:45201855-45201905	AG09309	skin:	n/a
29	chr11:45201855-45201905	HRE	kidney:	n/a
30	chr11:45201855-45201905	HUVEC	blood vessel:	n/a
31	chr11:45201855-45201905	SK-N-MC	brain:	n/a
32	chr11:45201855-45201905	AoSMC	blood vessel:	n/a
33	chr11:45201855-45201905	MCF10A-Er-Src	breast:	n/a
34	chr11:45201855-45201905	BJ	skin:	n/a
35	chr11:45201855-45201905	HRCEpiC	kidney:	n/a
36	chr11:45201855-45201905	GM12892	blood:	n/a
37	chr11:45201855-45201905	AG10803	skin:	n/a
38	chr11:45201855-45201905	SKMC	muscle:	n/a
39	chr11:45201855-45201905	SAEC	small airway:	n/a
40	chr11:45201855-45201905	HCM	heart:	n/a
41	chr11:45201855-45201905	A549	lung:	n/a
42	chr11:45201855-45201905	NHBE	bronchial:	n/a
43	chr11:45201855-45201905	AG04450	lung:	fetal
44	chr11:45201855-45201905	HPAEpiC	pulmonary alveolar:	n/a
45	chr11:45201855-45201905	SK-N-SH_RA	brain:	n/a
46	chr11:45201855-45201905	HMEC	breast:	n/a
47	chr11:45201855-45201905	U87	brain:	n/a
48	chr11:45201855-45201905	H1-hESC	embryonic stem cell:	embryo
49	chr11:45201855-45201905	Caco-2	colon:	n/a
50	chr11:45201855-45201905	HEEpiC	esophagus:	n/a

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:45200855..45203126-chr11:45215617..45218451,2	MCF-7	breast:
2	chr11:45200307..45202663-chr11:45284381..45286142,2	MCF-7	breast:
3	chr11:45192972..45194599-chr11:45201172..45203381,2	MCF-7	breast:
4	chr11:45201626..45202272-chr12:6978913..6979896,2	Hela-S3	cervix:
5	chr11:45175116..45179672-chr11:45200428..45203177,5	MCF-7	breast:
6	chr11:45201395..45201910-chr11:45314825..45315380,2	MCF-7	breast:
7	chr11:45184562..45186695-chr11:45200479..45203077,3	MCF-7	breast:
8	chr11:45201839..45203061-chr11:62608513..62609201,3	Hela-S3	cervix:
9	chr11:45197003..45199885-chr11:45200062..45203295,4	MCF-7	breast:
10	chr11:45164160..45171283-chr11:45198764..45207868,26	MCF-7	breast:
11	chr11:45167893..45171206-chr11:45200303..45204446,5	MCF-7	breast:
12	chr11:45194753..45196374-chr11:45201257..45203053,2	K562	blood:
13	chr11:45184515..45187339-chr11:45200209..45203185,3	MCF-7	breast:
14	chr11:45201399..45202014-chr19:13949551..13950439,2	Hela-S3	cervix:
15	chr11:45168123..45168914-chr11:45201466..45202278,2	MCF-7	breast:
16	chr11:45198038..45200722-chr11:45201190..45202692,2	MCF-7	breast:
17	chr11:45201835..45202455-chr17:27620880..27621538,2	Hela-S3	cervix:
18	chr11:45201511..45203799-chr11:45256779..45259525,2	MCF-7	breast:
19	chr1:45186974..45187599-chr11:45201244..45201899,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
PRDM11	TF binding region
PRDM11	CpG island
ENSG00000254664	Chromatin interaction
ENSG00000111669	Chromatin interaction
ENSG00000019485	Chromatin interaction
ENSG00000108256	Chromatin interaction
ENSG00000199377	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv825852	chr11:45141386-45228580	Bivalent/Poised TSS Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1048493	chr11:45166054-45205695	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
3	esv3406728	chr11:45201001-45203549	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
4	esv3326620	chr11:45201401-45203949	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45200400-45202000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:45201000-45202000	Enhancers	K562	blood
3	chr11:45201000-45202400	Enhancers	Placenta	Placenta
4	chr11:45201000-45202400	Enhancers	NHLF	lung
5	chr11:45201200-45202000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr11:45201200-45202000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr11:45201200-45202000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr11:45201200-45202000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr11:45201200-45202000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr11:45201200-45202000	Flanking Active TSS	Stomach Smooth Muscle	stomach
11	chr11:45201200-45202000	Flanking Active TSS	NH-A	brain
12	chr11:45201400-45202000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr11:45201400-45202000	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr11:45201400-45202000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
15	chr11:45201400-45202000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr11:45201400-45202000	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr11:45201400-45202000	Flanking Active TSS	Fetal Muscle Leg	muscle
18	chr11:45201400-45202000	Flanking Active TSS	Right Ventricle	heart
19	chr11:45201400-45202000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr11:45201400-45202000	Bivalent/Poised TSS	NHDF-Ad	bronchial
21	chr11:45201400-45202400	Active TSS	Brain Germinal Matrix	brain
22	chr11:45201400-45202600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr11:45201400-45203000	Active TSS	H9 Cell Line	embryonic stem cell
24	chr11:45201400-45203000	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr11:45201400-45203000	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr11:45201400-45203400	Flanking Active TSS	Colonic Mucosa	Colon
27	chr11:45201400-45203400	Enhancers	Fetal Brain Male	brain
28	chr11:45201600-45202000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr11:45201600-45202000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr11:45201600-45202000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr11:45201600-45202000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
32	chr11:45201600-45202000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr11:45201600-45202000	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
34	chr11:45201600-45202000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
35	chr11:45201600-45202000	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
36	chr11:45201600-45202000	Flanking Active TSS	Liver	Liver
37	chr11:45201600-45202000	Flanking Active TSS	Esophagus	oesophagus
38	chr11:45201600-45202000	Flanking Active TSS	Gastric	stomach
39	chr11:45201600-45202000	Flanking Active TSS	Pancreas	Pancrea
40	chr11:45201600-45202000	Weak transcription	Small Intestine	intestine
41	chr11:45201600-45202000	Flanking Active TSS	Spleen	Spleen
42	chr11:45201600-45202000	Flanking Active TSS	HSMMtube	muscle
43	chr11:45201600-45202000	Flanking Active TSS	HUVEC	blood vessel
44	chr11:45201600-45202000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
45	chr11:45201600-45202600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr11:45201600-45202800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr11:45201600-45203000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr11:45201600-45203000	Active TSS	Brain Angular Gyrus	brain
49	chr11:45201600-45203000	Active TSS	HepG2	liver
50	chr11:45201600-45203600	Active TSS	Aorta	Aorta

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