Variant report

Variant	rs2444243
Chromosome Location	chr11:120082325-120082326
allele	C/T
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	POLR2A	chr11:120080368-120083375	IMR90	lung:	n/a	n/a
2	POLR2A	chr11:120081299-120082425	NB4	blood:	n/a	n/a
3	MAX	chr11:120081050-120082363	HCT-116	colon:	n/a	chr11:120081389-120081399 chr11:120081821-120081831 chr11:120081411-120081421 chr11:120081823-120081830 chr11:120081822-120081831
4	MAX	chr11:120081198-120082373	K562	blood:	n/a	chr11:120081389-120081399 chr11:120081821-120081831 chr11:120081411-120081421 chr11:120081823-120081830 chr11:120081822-120081831
5	E2F6	chr11:120081992-120082370	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAZ	chr11:120080646-120082607	IMR90	lung:	n/a	chr11:120081389-120081399 chr11:120081821-120081831 chr11:120081411-120081421 chr11:120081823-120081830 chr11:120081822-120081831
7	E2F6	chr11:120081979-120082328	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr11:120081247-120082691	Hela-S3	cervix:	n/a	n/a
9	REST	chr11:120081930-120082344	PFSK-1	brain:	n/a	n/a
10	SIN3A	chr11:120081170-120082654	H1-hESC	embryonic stem cell:	n/a	chr11:120081870-120081881 chr11:120081407-120081418 chr11:120081509-120081520
11	UBTF	chr11:120081140-120082333	K562	blood:	n/a	n/a
12	BHLHE40	chr11:120081656-120082329	K562	blood:	n/a	chr11:120081879-120081895
13	CREB1	chr11:120081047-120082445	HepG2	liver:	n/a	n/a
14	MXI1	chr11:120080275-120082746	IMR90	lung:	n/a	chr11:120081821-120081830
15	MAZ	chr11:120081062-120082344	K562	blood:	n/a	chr11:120081389-120081399 chr11:120081821-120081831 chr11:120081411-120081421 chr11:120081823-120081830 chr11:120081822-120081831
16	E2F6	chr11:120081454-120082430	K562	blood:	n/a	chr11:120081571-120081583 chr11:120081574-120081583 chr11:120081872-120081881
17	MAX	chr11:120081180-120082360	A549	lung:	n/a	chr11:120081389-120081399 chr11:120081821-120081831 chr11:120081411-120081421 chr11:120081823-120081830 chr11:120081822-120081831
18	MAX	chr11:120080993-120082433	ECC-1	luminal epithelium:	n/a	chr11:120081389-120081399 chr11:120081821-120081831 chr11:120081411-120081421 chr11:120081823-120081830 chr11:120081822-120081831
19	MAX	chr11:120080973-120082559	HCT-116	colon:	n/a	chr11:120081389-120081399 chr11:120081821-120081831 chr11:120081411-120081421 chr11:120081823-120081830 chr11:120081822-120081831
20	E2F6	chr11:120081281-120082415	K562	blood:	n/a	chr11:120081571-120081583 chr11:120081574-120081583 chr11:120081872-120081881
21	MAX	chr11:120081404-120082390	H1-hESC	embryonic stem cell:	n/a	chr11:120081821-120081831 chr11:120081411-120081421 chr11:120081823-120081830 chr11:120081822-120081831
22	MAZ	chr11:120081177-120082326	Hela-S3	cervix:	n/a	chr11:120081389-120081399 chr11:120081821-120081831 chr11:120081411-120081421 chr11:120081823-120081830 chr11:120081822-120081831
23	RCOR1	chr11:120081398-120082347	K562	blood:	n/a	n/a
24	MAX	chr11:120081113-120082552	HepG2	liver:	n/a	chr11:120081389-120081399 chr11:120081821-120081831 chr11:120081411-120081421 chr11:120081823-120081830 chr11:120081822-120081831
25	MYC	chr11:120081063-120082449	A549	lung:	n/a	chr11:120081389-120081399 chr11:120081821-120081831 chr11:120081411-120081421 chr11:120081823-120081830 chr11:120081822-120081831
26	MAX	chr11:120080645-120082378	Hela-S3	cervix:	n/a	chr11:120081389-120081399 chr11:120081821-120081831 chr11:120081411-120081421 chr11:120081823-120081830 chr11:120081822-120081831
27	MYC	chr11:120081049-120082705	K562	blood:	n/a	chr11:120081389-120081399 chr11:120081821-120081831 chr11:120081411-120081421 chr11:120081823-120081830 chr11:120081822-120081831
28	MAX	chr11:120080447-120082622	NB4	blood:	n/a	chr11:120081389-120081399 chr11:120081821-120081831 chr11:120081411-120081421 chr11:120081823-120081830 chr11:120081822-120081831
29	MXI1	chr11:120080653-120082910	SK-N-SH	brain:	n/a	chr11:120081821-120081830
30	MAX	chr11:120081379-120082333	H1-hESC	embryonic stem cell:	n/a	chr11:120081389-120081399 chr11:120081821-120081831 chr11:120081411-120081421 chr11:120081823-120081830 chr11:120081822-120081831
31	MAX	chr11:120081081-120082486	HepG2	liver:	n/a	chr11:120081389-120081399 chr11:120081821-120081831 chr11:120081411-120081421 chr11:120081823-120081830 chr11:120081822-120081831
32	MAX	chr11:120080988-120082573	K562	blood:	n/a	chr11:120081389-120081399 chr11:120081821-120081831 chr11:120081411-120081421 chr11:120081823-120081830 chr11:120081822-120081831
33	MAX	chr11:120081814-120082339	A549	lung:	n/a	chr11:120081821-120081831 chr11:120081823-120081830 chr11:120081822-120081831
34	MAX	chr11:120081063-120082381	A549	lung:	n/a	chr11:120081389-120081399 chr11:120081821-120081831 chr11:120081411-120081421 chr11:120081823-120081830 chr11:120081822-120081831
35	MAX	chr11:120081118-120082366	SK-N-SH	brain:	n/a	chr11:120081389-120081399 chr11:120081821-120081831 chr11:120081411-120081421 chr11:120081823-120081830 chr11:120081822-120081831
36	CTBP2	chr11:120080927-120082755	H1-hESC	embryonic stem cell:	n/a	n/a
37	SMARCB1	chr11:120081522-120082751	Hela-S3	cervix:	n/a	n/a
38	MYC	chr11:120081057-120082343	NB4	blood:	n/a	chr11:120081389-120081399 chr11:120081821-120081831 chr11:120081411-120081421 chr11:120081823-120081830 chr11:120081822-120081831

No.	Distal block	Cell Line	Cell type
1	chr11:120080610..120089931-chr11:120105398..120112199,18	K562	blood:
2	chr11:120080662..120083182-chr11:120083944..120086303,3	MCF-7	breast:
3	chr11:120054593..120056417-chr11:120079805..120082698,2	K562	blood:
4	chr11:120079370..120085014-chr11:120104504..120109067,9	K562	blood:

Variant related genes	Relation type
OAF	TF binding region
ENSG00000137699	Chromatin interaction
ENSG00000137709	Chromatin interaction
ENSG00000184232	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1287393	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1287395	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2253006	0.92[EUR][1000 genomes]
rs2444241	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2444242	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2508495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2508496	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2509623	0.92[EUR][1000 genomes]
rs2845702	0.86[EUR][1000 genomes]
rs2845708	0.97[EUR][1000 genomes]
rs2847499	0.87[EUR][1000 genomes]
rs476809	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs477863	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs489454	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs492275	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs513944	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs521841	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs536743	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs537907	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs540857	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs547990	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs562966	0.98[ASN][1000 genomes]
rs896695	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv428581	chr11:120006048-120167603	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv518464	chr11:120040442-120109967	Genic enhancers Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	esv3322007	chr11:120079642-120084040	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	esv3325819	chr11:120080267-120083115	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120080800-120082400	Active TSS	Aorta	Aorta
2	chr11:120080800-120083400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
3	chr11:120080800-120084000	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr11:120081000-120082400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr11:120081000-120082400	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr11:120081000-120082400	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr11:120081000-120082400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr11:120081000-120082400	Active TSS	Spleen	Spleen
9	chr11:120081000-120082400	Active TSS	A549	lung
10	chr11:120081000-120083400	Active TSS	Gastric	stomach
11	chr11:120081000-120083400	Active TSS	NHLF	lung
12	chr11:120081000-120083600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
13	chr11:120081000-120083600	Active TSS	Esophagus	oesophagus
14	chr11:120081000-120083600	Active TSS	Ovary	ovary
15	chr11:120081000-120083600	Active TSS	Small Intestine	intestine
16	chr11:120081000-120084000	Active TSS	Fetal Kidney	kidney
17	chr11:120081000-120084200	Active TSS	Right Ventricle	heart
18	chr11:120081000-120084400	Active TSS	Rectal Smooth Muscle	rectum
19	chr11:120081200-120082400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:120081200-120082400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:120081200-120082400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
22	chr11:120081200-120082400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr11:120081200-120082400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr11:120081200-120082400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr11:120081200-120082400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
26	chr11:120081200-120082400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr11:120081200-120082400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr11:120081200-120082400	Active TSS	Brain Cingulate Gyrus	brain
29	chr11:120081200-120082400	Active TSS	Brain Hippocampus Middle	brain
30	chr11:120081200-120082400	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr11:120081200-120082400	Active TSS	Fetal Intestine Small	intestine
32	chr11:120081200-120082400	Active TSS	Fetal Lung	lung
33	chr11:120081200-120082400	Active TSS	Rectal Mucosa Donor 31	rectum
34	chr11:120081200-120082400	Active TSS	GM12878-XiMat	blood
35	chr11:120081200-120082600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr11:120081200-120082600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
37	chr11:120081200-120082600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
38	chr11:120081200-120082600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr11:120081200-120083000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr11:120081200-120083000	Active TSS	Brain Substantia Nigra	brain
41	chr11:120081200-120083200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr11:120081200-120083200	Active TSS	Liver	Liver
43	chr11:120081200-120083200	Active TSS	Duodenum Mucosa	Duodenum
44	chr11:120081200-120083200	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
45	chr11:120081200-120083400	Active TSS	Brain Angular Gyrus	brain
46	chr11:120081200-120083400	Active TSS	HSMM	muscle
47	chr11:120081200-120083400	Active TSS	HSMMtube	muscle
48	chr11:120081200-120083400	Active TSS	NHDF-Ad	bronchial
49	chr11:120081200-120083600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr11:120081200-120083600	Active TSS	Brain Anterior Caudate	brain

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