Variant report

Variant	rs1159257
Chromosome Location	chr2:180133167-180133168
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	FOXM1	chr2:180133023-180133562	MCF-7	breast:	n/a	n/a
2	CHD2	chr2:180133040-180133509	Hela-S3	cervix:	n/a	n/a
3	EP300	chr2:180132920-180133599	MCF-7	breast:	n/a	n/a
4	CEBPB	chr2:180133125-180133280	IMR90	lung:	n/a	n/a
5	STAT5A	chr2:180132952-180133328	GM12878	blood:	n/a	n/a
6	FOS	chr2:180132966-180133611	MCF10A-Er-Src	breast:	n/a	chr2:180133044-180133056
7	SIN3AK20	chr2:180132833-180133684	MCF-7	breast:	n/a	n/a
8	BATF	chr2:180133009-180133382	GM12878	blood:	n/a	n/a
9	JUND	chr2:180133053-180133420	A549	lung:	n/a	n/a
10	SP1	chr2:180132876-180133569	A549	lung:	n/a	n/a
11	PML	chr2:180132802-180133406	GM12878	blood:	n/a	n/a
12	BATF	chr2:180133010-180133329	GM12878	blood:	n/a	n/a
13	STAT3	chr2:180132956-180133471	MCF10A-Er-Src	breast:	n/a	n/a
14	NFATC1	chr2:180132885-180133395	GM12878	blood:	n/a	n/a
15	EP300	chr2:180133029-180133573	MCF-7	breast:	n/a	n/a
16	HDAC2	chr2:180132947-180133533	MCF-7	breast:	n/a	chr2:180132961-180132975 chr2:180133363-180133377
17	FOXM1	chr2:180132849-180133488	GM12878	blood:	n/a	n/a
18	BCL3	chr2:180132984-180133317	GM12878	blood:	n/a	n/a
19	NFIC	chr2:180132677-180133490	GM12878	blood:	n/a	n/a
20	FOXM1	chr2:180132880-180133524	GM12878	blood:	n/a	n/a
21	GTF2F1	chr2:180133060-180133617	Hela-S3	cervix:	n/a	n/a
22	FOXA2	chr2:180133057-180133520	A549	lung:	n/a	chr2:180133082-180133094
23	E2F4	chr2:180133033-180133369	MCF10A-Er-Src	breast:	n/a	n/a
24	MEF2A	chr2:180132787-180133407	GM12878	blood:	n/a	chr2:180132994-180133005 chr2:180133024-180133045 chr2:180132992-180133007 chr2:180132963-180132984 chr2:180133028-180133039 chr2:180132993-180133007
25	MEF2C	chr2:180132827-180133375	GM12878	blood:	n/a	chr2:180132994-180133005 chr2:180133024-180133045 chr2:180132992-180133007 chr2:180132963-180132984 chr2:180133028-180133039 chr2:180132993-180133007
26	TFAP2C	chr2:180132857-180134020	Hela-S3	cervix:	n/a	chr2:180133241-180133256
27	ATF2	chr2:180132917-180133336	GM12878	blood:	n/a	n/a
28	STAT3	chr2:180132956-180133537	MCF10A-Er-Src	breast:	n/a	n/a
29	MAX	chr2:180133047-180133449	Hela-S3	cervix:	n/a	n/a
30	NR2F2	chr2:180132980-180133544	MCF-7	breast:	n/a	n/a
31	STAT3	chr2:180132943-180133471	MCF10A-Er-Src	breast:	n/a	n/a
32	HDAC2	chr2:180132996-180133490	MCF-7	breast:	n/a	chr2:180133363-180133377
33	EP300	chr2:180133051-180133251	GM12878	blood:	n/a	n/a
34	JUND	chr2:180132999-180133467	A549	lung:	n/a	chr2:180133044-180133056
35	CEBPB	chr2:180132929-180133495	MCF-7	breast:	n/a	n/a
36	RAD21	chr2:180133037-180133445	Hela-S3	cervix:	n/a	n/a
37	EP300	chr2:180133075-180133387	HepG2	liver:	n/a	n/a
38	NFIC	chr2:180132731-180133429	GM12878	blood:	n/a	n/a
39	STAT3	chr2:180133018-180133426	Hela-S3	cervix:	n/a	n/a
40	TCF7L2	chr2:180133088-180133485	Hela-S3	cervix:	n/a	n/a
41	ATF2	chr2:180132865-180133290	GM12878	blood:	n/a	n/a
42	KAP1	chr2:180133029-180133480	HEK293	kidney:	n/a	n/a
43	CEBPB	chr2:180133029-180133378	A549	lung:	n/a	n/a
44	IKZF1	chr2:180132860-180133465	GM12878	blood:	n/a	n/a
45	BCL11A	chr2:180132947-180133351	GM12878	blood:	n/a	n/a
46	NFATC1	chr2:180132943-180133350	GM12878	blood:	n/a	n/a
47	FOS	chr2:180132997-180133513	MCF10A-Er-Src	breast:	n/a	chr2:180133044-180133056
48	MYC	chr2:180133009-180133456	MCF10A-Er-Src	breast:	n/a	n/a
49	KAP1	chr2:180133078-180133502	U2OS	brain:	n/a	n/a
50	MEF2A	chr2:180132786-180133351	GM12878	blood:	n/a	chr2:180132994-180133005 chr2:180133024-180133045 chr2:180132992-180133007 chr2:180132963-180132984 chr2:180133028-180133039 chr2:180132993-180133007

No.	Distal block	Cell Line	Cell type
1	chr2:180129872..180132234-chr2:180132866..180134594,2	K562	blood:
2	chr2:180127197..180131104-chr2:180131643..180133525,5	MCF-7	breast:
3	chr2:180132248..180134762-chr2:180137452..180139078,2	MCF-7	breast:

Variant related genes	Relation type
SESTD1	TF binding region
ENSG00000237477	Chromatin interaction
ENSG00000187231	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10164814	0.80[CEU][hapmap]
rs10194534	0.92[ASN][1000 genomes]
rs10197425	0.86[JPT][hapmap]
rs10930859	0.92[ASN][1000 genomes]
rs12621023	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs12693184	0.89[YRI][hapmap];0.83[AFR][1000 genomes]
rs17454311	1.00[CHB][hapmap]
rs9288025	1.00[CHB][hapmap];0.83[ASN][1000 genomes]

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	nsv1004693	chr2:179933683-180265288	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv834472	chr2:180091670-180220448	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180130000-180135200	Weak transcription	Brain Angular Gyrus	brain
2	chr2:180130000-180137200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:180130000-180138000	Weak transcription	Gastric	stomach
4	chr2:180130000-180138200	Weak transcription	Aorta	Aorta
5	chr2:180130000-180141000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:180130000-180141200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:180130200-180133200	Weak transcription	Brain Hippocampus Middle	brain
8	chr2:180130200-180136200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr2:180130200-180137200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:180130200-180137200	Weak transcription	NH-A	brain
11	chr2:180130400-180133200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:180130400-180136000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr2:180130400-180137400	Weak transcription	Fetal Intestine Large	intestine
14	chr2:180130400-180138400	Weak transcription	Colon Smooth Muscle	Colon
15	chr2:180130400-180139200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr2:180130600-180138200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:180130800-180133200	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr2:180130800-180135400	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr2:180131000-180133200	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr2:180131200-180133200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:180131200-180133200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr2:180132200-180134200	Enhancers	Hela-S3	cervix
23	chr2:180132600-180133400	Enhancers	GM12878-XiMat	blood
24	chr2:180132600-180133600	Enhancers	Placenta	Placenta
25	chr2:180132600-180133600	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr2:180132600-180133800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr2:180132600-180134000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:180132600-180134000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:180132600-180134000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:180132600-180134000	Enhancers	HepG2	liver
31	chr2:180132600-180134000	Enhancers	NHEK	skin
32	chr2:180132600-180134600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:180132800-180133600	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr2:180132800-180133600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr2:180132800-180133600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr2:180132800-180133800	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr2:180132800-180133800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr2:180132800-180133800	Enhancers	HUVEC	blood vessel
39	chr2:180132800-180133800	Enhancers	Osteobl	bone
40	chr2:180132800-180134000	Enhancers	Muscle Satellite Cultured Cells	--
41	chr2:180132800-180134000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr2:180132800-180134000	Enhancers	HMEC	breast
43	chr2:180132800-180134200	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr2:180133000-180133200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr2:180133000-180133200	Enhancers	Primary hematopoietic stem cells	blood
46	chr2:180133000-180133400	Enhancers	A549	lung
47	chr2:180133000-180133400	Enhancers	NHDF-Ad	bronchial
48	chr2:180133000-180133600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr2:180133000-180133600	Enhancers	Brain Substantia Nigra	brain
50	chr2:180133000-180133800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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