Variant report

Variant	rs17042939
Chromosome Location	chr2:113882891-113882892
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	FOS	chr2:113882859-113883517	MCF10A-Er-Src	breast:	n/a	chr2:113883355-113883367 chr2:113883356-113883366 chr2:113883356-113883366 chr2:113883356-113883365 chr2:113883358-113883365
2	JUND	chr2:113882820-113883178	HepG2	liver:	n/a	chr2:113882993-113883004
3	NFIC	chr2:113882777-113883307	HepG2	liver:	n/a	n/a
4	JUND	chr2:113882877-113883091	HepG2	liver:	n/a	chr2:113882993-113883004
5	STAT3	chr2:113882842-113883452	MCF10A-Er-Src	breast:	n/a	chr2:113883357-113883366
6	FOSL2	chr2:113882794-113883555	HepG2	liver:	n/a	chr2:113883355-113883367 chr2:113883356-113883366 chr2:113883356-113883366 chr2:113883356-113883365 chr2:113883358-113883365
7	FOSL2	chr2:113882769-113883556	HepG2	liver:	n/a	chr2:113883355-113883367 chr2:113883356-113883366 chr2:113883356-113883366 chr2:113883356-113883365 chr2:113883358-113883365
8	EP300	chr2:113882587-113883411	HepG2	liver:	n/a	chr2:113883330-113883346 chr2:113883356-113883365
9	JUND	chr2:113882817-113883456	HepG2	liver:	n/a	chr2:113883355-113883367 chr2:113883356-113883366 chr2:113883356-113883366 chr2:113882993-113883004 chr2:113883356-113883365 chr2:113883358-113883365
10	MBD4	chr2:113882665-113883499	HepG2	liver:	n/a	n/a
11	MYBL2	chr2:113882533-113883477	HepG2	liver:	n/a	n/a
12	JUN	chr2:113882845-113883444	HepG2	liver:	n/a	chr2:113883355-113883367 chr2:113883356-113883366 chr2:113883356-113883366 chr2:113883356-113883365 chr2:113883358-113883365
13	FOS	chr2:113882873-113883501	MCF10A-Er-Src	breast:	n/a	chr2:113883355-113883367 chr2:113883356-113883366 chr2:113883356-113883366 chr2:113883356-113883365 chr2:113883358-113883365
14	FOS	chr2:113882822-113883522	MCF10A-Er-Src	breast:	n/a	chr2:113883355-113883367 chr2:113883356-113883366 chr2:113883356-113883366 chr2:113883356-113883365 chr2:113883358-113883365
15	FOS	chr2:113882834-113883519	MCF10A-Er-Src	breast:	n/a	chr2:113883355-113883367 chr2:113883356-113883366 chr2:113883356-113883366 chr2:113883356-113883365 chr2:113883358-113883365
16	ARID3A	chr2:113882669-113883313	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:113835706..113838400-chr2:113880453..113883939,3	MCF-7	breast:
2	chr2:113840473..113842575-chr2:113882514..113884830,2	MCF-7	breast:
3	chr2:113881539..113883723-chr2:113885379..113887857,3	K562	blood:
4	chr2:113876674..113878851-chr2:113881622..113884408,2	K562	blood:
5	chr2:113882796..113885709-chr2:113913605..113916421,2	MCF-7	breast:
6	chr2:113873018..113874918-chr2:113881727..113884531,2	MCF-7	breast:
7	chr2:113881134..113884097-chr2:113960459..113963321,2	K562	blood:

Variant related genes	Relation type
IL1RN	TF binding region
ENSG00000125637	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs3811049	0.85[MEX][hapmap]
rs45462902	0.97[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997348	chr2:113688093-113986508	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1007254	chr2:113726982-113887782	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv535894	chr2:113726982-113887782	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS 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	12 gene(s)	inside rSNPs	diseases
4	nsv1003928	chr2:113846503-113887782	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1013513	chr2:113876914-113893482	Weak transcription Active TSS Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113875400-113887400	Weak transcription	Spleen	Spleen
2	chr2:113876000-113887400	Weak transcription	Gastric	stomach
3	chr2:113876000-113896200	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr2:113876600-113885000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr2:113879800-113885200	Weak transcription	Esophagus	oesophagus
6	chr2:113881200-113883200	Weak transcription	Liver	Liver
7	chr2:113881200-113884600	Enhancers	Primary B cells from cord blood	blood
8	chr2:113881400-113883200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:113881600-113883200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:113881600-113883200	Enhancers	HMEC	breast
11	chr2:113881600-113884800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr2:113881800-113883200	Enhancers	HUVEC	blood vessel
13	chr2:113881800-113883200	Bivalent Enhancer	Osteobl	bone
14	chr2:113881800-113883400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:113882000-113883200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:113882000-113883200	Enhancers	Placenta Amnion	Placenta Amnion
17	chr2:113882200-113883200	Enhancers	A549	lung
18	chr2:113882200-113883400	Enhancers	Hela-S3	cervix
19	chr2:113882400-113883400	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr2:113882400-113883400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:113882600-113883000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr2:113882600-113883000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:113882600-113883000	Enhancers	GM12878-XiMat	blood
24	chr2:113882600-113883200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:113882600-113883200	Enhancers	NH-A	brain
26	chr2:113882600-113884400	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr2:113882600-113884600	Weak transcription	Placenta	Placenta
28	chr2:113882600-113886000	Weak transcription	Primary B cells from peripheral blood	blood
29	chr2:113882600-113890000	Weak transcription	Lung	lung
30	chr2:113882800-113883200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr2:113882800-113883200	Enhancers	HepG2	liver
32	chr2:113882800-113883400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr2:113882800-113883400	Enhancers	NHEK	skin
34	chr2:113882800-113883600	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr2:113882800-113885200	Weak transcription	Primary hematopoietic stem cells	blood
36	chr2:113882800-113889200	Weak transcription	Stomach Mucosa	stomach
37	chr2:113882800-113891200	Weak transcription	Duodenum Mucosa	Duodenum

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