Variant report

Variant	rs4669685
Chromosome Location	chr2:11213936-11213937
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11213310..11214023-chr2:11269749..11271029,3	MCF-7	breast:
2	chr2:11213548..11215079-chr2:11263052..11265124,2	MCF-7	breast:
3	chr2:11212343..11214819-chr2:11221166..11223502,2	MCF-7	breast:
4	chr2:11213355..11214082-chr2:11264187..11265377,5	MCF-7	breast:
5	chr2:11213530..11214067-chr2:11261337..11261855,2	MCF-7	breast:
6	chr2:11213696..11215266-chr2:11216231..11217770,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10194167	0.91[ASN][1000 genomes]
rs1108933	0.84[ASN][1000 genomes]
rs12986438	0.84[ASN][1000 genomes]
rs2005507	0.95[ASN][1000 genomes]
rs2884357	0.84[ASN][1000 genomes]
rs6432167	0.87[ASN][1000 genomes]
rs6432168	0.87[ASN][1000 genomes]
rs752025	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs880327	0.84[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	nsv833392	chr2:11054580-11235239	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv580971	chr2:11175395-11226507	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4669685	C2orf50	cis	parietal	SCAN
rs4669685	C2orf48	cis	parietal	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11207800-11214400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:11211400-11214000	Enhancers	H1 Cell Line	embryonic stem cell
3	chr2:11211400-11214000	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr2:11211600-11214400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:11212600-11214000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr2:11212600-11214600	Enhancers	Placenta	Placenta
7	chr2:11212600-11214600	Enhancers	HUVEC	blood vessel
8	chr2:11212800-11214800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:11213000-11214000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr2:11213000-11214200	Enhancers	Muscle Satellite Cultured Cells	--
11	chr2:11213200-11214600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr2:11213400-11214000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:11213400-11214000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:11213400-11214000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:11213400-11214000	Bivalent Enhancer	Stomach Mucosa	stomach
16	chr2:11213400-11214200	Weak transcription	Spleen	Spleen
17	chr2:11213400-11214400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr2:11213400-11214400	Enhancers	NH-A	brain
19	chr2:11213400-11214600	Enhancers	Fetal Lung	lung
20	chr2:11213400-11214600	Enhancers	NHLF	lung
21	chr2:11213600-11214200	Bivalent Enhancer	HepG2	liver
22	chr2:11213600-11214600	Enhancers	Fetal Stomach	stomach
23	chr2:11213800-11214000	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr2:11213800-11214200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:11213800-11214200	Flanking Active TSS	Osteobl	bone
26	chr2:11213800-11214400	Enhancers	Fetal Muscle Leg	muscle
27	chr2:11213800-11214400	Enhancers	Ovary	ovary
28	chr2:11213800-11214600	Enhancers	NHDF-Ad	bronchial
29	chr2:11213800-11214800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr2:11213800-11215400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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