Variant report

Variant	rs73443953
Chromosome Location	chr18:45458214-45458215
allele	A/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	CTCF	chr18:45458200-45458350	HMF	breast:	n/a	n/a
2	MAX	chr18:45457051-45458252	ECC-1	luminal epithelium:	n/a	chr18:45457863-45457873 chr18:45457862-45457873 chr18:45457862-45457873 chr18:45457861-45457874 chr18:45457862-45457872
3	SPI1	chr18:45458101-45458370	K562	blood:	n/a	chr18:45458219-45458232
4	MAX	chr18:45457271-45458517	A549	lung:	n/a	chr18:45457863-45457873 chr18:45457862-45457873 chr18:45457862-45457873 chr18:45457861-45457874 chr18:45457862-45457872
5	CTCF	chr18:45458162-45458364	GM12878	blood:	n/a	n/a
6	RAD21	chr18:45458085-45458483	H1-hESC	embryonic stem cell:	n/a	n/a
7	CCNT2	chr18:45456398-45458354	K562	blood:	n/a	chr18:45456627-45456636 chr18:45456508-45456517
8	POLR2A	chr18:45456413-45458569	NB4	blood:	n/a	n/a
9	SIN3A	chr18:45455970-45458510	H1-hESC	embryonic stem cell:	n/a	chr18:45456992-45457005
10	CTCF	chr18:45458180-45458330	GM12870	blood:	n/a	n/a
11	ELK1	chr18:45457132-45458253	Hela-S3	cervix:	n/a	n/a
12	CTCF	chr18:45458140-45458290	GM06990	blood:	n/a	n/a
13	MAX	chr18:45456385-45458222	HCT-116	colon:	n/a	chr18:45457863-45457873 chr18:45457862-45457873 chr18:45457862-45457873 chr18:45457861-45457874 chr18:45457862-45457872
14	CTCF	chr18:45458198-45458354	MCF-7	breast:	n/a	n/a
15	RAD21	chr18:45458068-45458529	MCF-7	breast:	n/a	n/a
16	HCFC1	chr18:45456535-45458436	K562	blood:	n/a	n/a
17	CTCF	chr18:45458180-45458330	HPF	lung:	n/a	n/a
18	ZNF143	chr18:45456347-45458478	GM12878	blood:	n/a	chr18:45456503-45456513 chr18:45457274-45457284 chr18:45456993-45457003
19	IRF1	chr18:45456767-45458437	K562	blood:	n/a	chr18:45457614-45457628 chr18:45457802-45457816
20	CREB1	chr18:45456286-45458221	HepG2	liver:	n/a	n/a
21	CTCF	chr18:45458200-45458350	Caco-2	colon:	n/a	n/a
22	MAZ	chr18:45456087-45458461	K562	blood:	n/a	chr18:45457862-45457873 chr18:45457862-45457873 chr18:45457861-45457874 chr18:45457862-45457872
23	POLR2A	chr18:45454367-45459190	MCF10A-Er-Src	breast:	n/a	n/a
24	CTCF	chr18:45458168-45458376	K562	blood:	n/a	n/a
25	MXI1	chr18:45457646-45458409	K562	blood:	n/a	n/a
26	CTCF	chr18:45458153-45458398	Medullo	brain:	n/a	n/a
27	MAX	chr18:45456297-45458478	HepG2	liver:	n/a	chr18:45457863-45457873 chr18:45457862-45457873 chr18:45457862-45457873 chr18:45457861-45457874 chr18:45457862-45457872
28	CTCF	chr18:45458160-45458310	AG09319	gingival:	n/a	n/a
29	CTCF	chr18:45458200-45458350	SK-N-SH_RA	brain:	n/a	n/a
30	POLR2A	chr18:45455632-45459226	MCF10A-Er-Src	breast:	n/a	n/a
31	CTCF	chr18:45458160-45458310	HEEpiC	esophagus:	n/a	n/a
32	CTCF	chr18:45458080-45458230	HCM	heart:	n/a	n/a
33	ZKSCAN1	chr18:45457252-45458431	Hela-S3	cervix:	n/a	n/a
34	RELA	chr18:45456153-45458434	GM15510	blood:	n/a	chr18:45456318-45456327 chr18:45456318-45456327
35	RAD21	chr18:45458149-45458405	A549	lung:	n/a	n/a
36	RAD21	chr18:45457309-45458677	SK-N-SH	brain:	n/a	n/a
37	JUND	chr18:45456001-45458467	K562	blood:	n/a	chr18:45457609-45457618 chr18:45456617-45456625 chr18:45457619-45457628 chr18:45457535-45457544 chr18:45457366-45457375 chr18:45457309-45457318
38	CHD2	chr18:45456053-45458413	Hela-S3	cervix:	n/a	chr18:45457449-45457459 chr18:45457438-45457448
39	SMC3	chr18:45458101-45458635	GM12878	blood:	n/a	n/a
40	CHD2	chr18:45458158-45458383	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr18:45456209-45458371	Raji	blood:	n/a	n/a
42	MAX	chr18:45456210-45458385	HepG2	liver:	n/a	chr18:45457863-45457873 chr18:45457862-45457873 chr18:45457862-45457873 chr18:45457861-45457874 chr18:45457862-45457872
43	TBL1XR1	chr18:45457354-45458236	GM12878	blood:	n/a	n/a
44	ATF2	chr18:45457769-45458218	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr18:45458200-45458350	HPAF	blood vessel:	n/a	n/a
46	TAF7	chr18:45457181-45458403	H1-hESC	embryonic stem cell:	n/a	n/a
47	UBTF	chr18:45456203-45458373	K562	blood:	n/a	n/a
48	MAX	chr18:45457713-45458411	H1-hESC	embryonic stem cell:	n/a	chr18:45457863-45457873 chr18:45457862-45457873 chr18:45457862-45457873 chr18:45457861-45457874 chr18:45457862-45457872
49	EBF1	chr18:45458062-45458532	GM12878	blood:	n/a	n/a
50	CTCF	chr18:45458129-45458410	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:45457609..45458225-chr18:45530268..45531251,3	Hela-S3	cervix:
2	chr18:45448291..45450129-chr18:45457101..45459149,2	MCF-7	breast:
3	chr18:45422809..45427886-chr18:45455832..45459212,8	MCF-7	breast:
4	chr18:45457568..45458509-chr18:45534238..45535078,2	MCF-7	breast:
5	chr18:45457936..45459581-chr18:45522909..45525211,2	K562	blood:
6	chr18:45457637..45459201-chr18:45523865..45526054,2	MCF-7	breast:
7	chr18:45419311..45422107-chr18:45455091..45458226,3	K562	blood:
8	chr18:45457832..45458760-chr18:45548781..45549306,2	MCF-7	breast:
9	chr18:45423054..45427118-chr18:45456865..45459520,4	MCF-7	breast:

Variant related genes	Relation type
SMAD2	TF binding region
ENSG00000175387	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs55709523	1.00[AMR][1000 genomes]
rs56229381	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57068919	1.00[AMR][1000 genomes]
rs58270038	1.00[AMR][1000 genomes]
rs58295111	1.00[AMR][1000 genomes]
rs60628515	1.00[AMR][1000 genomes]
rs73439737	1.00[AMR][1000 genomes]
rs73439740	1.00[AMR][1000 genomes]
rs73439744	1.00[AMR][1000 genomes]
rs73439749	1.00[AMR][1000 genomes]
rs73439750	1.00[AMR][1000 genomes]
rs73439768	1.00[AMR][1000 genomes]
rs73439776	1.00[AMR][1000 genomes]
rs73439785	1.00[AMR][1000 genomes]
rs73439787	1.00[AMR][1000 genomes]
rs73439800	1.00[AMR][1000 genomes]
rs73441731	1.00[AMR][1000 genomes]
rs73441746	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73441792	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73441797	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73443904	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73443909	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73953296	1.00[AMR][1000 genomes]
rs73953298	1.00[AMR][1000 genomes]
rs73953299	1.00[AMR][1000 genomes]
rs8083595	1.00[AMR][1000 genomes]
rs8098327	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv909614	chr18:45419421-45478490	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv909615	chr18:45452321-45493026	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	esv3446751	chr18:45455904-45459152	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45454600-45458400	Active TSS	H1 Cell Line	embryonic stem cell
2	chr18:45454600-45458400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr18:45454600-45458600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr18:45454600-45458600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr18:45454800-45458400	Active TSS	NHLF	lung
6	chr18:45454800-45458600	Active TSS	K562	blood
7	chr18:45455000-45458400	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr18:45455000-45458600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr18:45455000-45458600	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr18:45455200-45458400	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr18:45455200-45458400	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr18:45455200-45458600	Active TSS	Fetal Kidney	kidney
13	chr18:45455600-45458400	Active TSS	HSMMtube	muscle
14	chr18:45455800-45458400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr18:45455800-45458600	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr18:45456000-45458400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr18:45456000-45458400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr18:45456200-45458400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr18:45456200-45458400	Active TSS	Brain Substantia Nigra	brain
20	chr18:45456200-45458400	Active TSS	Esophagus	oesophagus
21	chr18:45456200-45458400	Active TSS	Gastric	stomach
22	chr18:45456200-45458600	Active TSS	Brain Cingulate Gyrus	brain
23	chr18:45456800-45458600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr18:45457400-45458600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr18:45457400-45458600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr18:45457600-45458600	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr18:45457600-45458600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr18:45457800-45458400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
29	chr18:45457800-45458400	Flanking Active TSS	Primary B cells from peripheral blood	blood
30	chr18:45457800-45458400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
31	chr18:45457800-45458400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
32	chr18:45457800-45458400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr18:45457800-45458400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr18:45457800-45458400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
35	chr18:45457800-45458400	Flanking Active TSS	Fetal Muscle Trunk	muscle
36	chr18:45457800-45458400	Flanking Active TSS	Fetal Muscle Leg	muscle
37	chr18:45457800-45458400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
38	chr18:45457800-45458400	Flanking Active TSS	Pancreas	Pancrea
39	chr18:45457800-45458400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
40	chr18:45457800-45458400	Flanking Active TSS	HUVEC	blood vessel
41	chr18:45457800-45458400	Flanking Active TSS	NH-A	brain
42	chr18:45457800-45458600	Flanking Active TSS	Adipose Nuclei	Adipose
43	chr18:45457800-45458600	Flanking Active TSS	Fetal Thymus	thymus
44	chr18:45457800-45458600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr18:45457800-45458800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr18:45457800-45458800	Flanking Active TSS	Thymus	Thymus
47	chr18:45457800-45458800	Flanking Active TSS	Hela-S3	cervix
48	chr18:45457800-45458800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr18:45457800-45459000	Flanking Active TSS	Dnd41	blood
50	chr18:45458000-45458400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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