Variant report

Variant	rs12611919
Chromosome Location	chr2:189261885-189261886
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:189156172..189158874-chr2:189261815..189263750,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000144366	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10193506	0.82[CEU][hapmap]
rs10804020	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs10931346	0.93[CEU][hapmap]
rs10931356	0.86[EUR][1000 genomes]
rs10931359	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs12465164	0.93[CEU][hapmap];0.86[EUR][1000 genomes]
rs12465625	0.93[CEU][hapmap];0.85[EUR][1000 genomes]
rs12473653	0.87[EUR][1000 genomes]
rs12474692	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs12624002	0.90[CEU][hapmap];0.89[EUR][1000 genomes]
rs13008931	0.96[CEU][hapmap];0.80[EUR][1000 genomes]
rs13014693	0.84[EUR][1000 genomes]
rs13033702	0.86[YRI][hapmap]
rs34778517	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35180255	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35365782	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35964306	0.84[EUR][1000 genomes]
rs4381753	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4413123	0.80[CEU][hapmap]
rs4516391	0.93[CEU][hapmap];0.82[EUR][1000 genomes]
rs4564741	0.89[EUR][1000 genomes]
rs4591312	0.80[EUR][1000 genomes]
rs4610010	0.80[EUR][1000 genomes]
rs4666759	0.88[EUR][1000 genomes]
rs4667221	0.90[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs4667222	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59106803	0.88[EUR][1000 genomes]
rs62183206	0.86[EUR][1000 genomes]
rs62183212	0.87[EUR][1000 genomes]
rs62183213	0.87[EUR][1000 genomes]
rs6712056	0.80[EUR][1000 genomes]
rs6724867	0.88[EUR][1000 genomes]
rs6744629	0.89[CEU][hapmap]
rs6753371	0.93[CEU][hapmap]
rs7425596	0.80[EUR][1000 genomes]
rs7566619	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs7586390	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs7593546	0.96[CEU][hapmap];0.80[EUR][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	nsv1010394	chr2:188994398-189284092	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
2	nsv998395	chr2:189018246-189284092	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1010330	chr2:189182307-189265614	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv999135	chr2:189184937-189265614	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv534341	chr2:189200405-189368467	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv533786	chr2:189248503-189354495	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189251000-189285200	Weak transcription	Aorta	Aorta
2	chr2:189251200-189268400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:189251200-189269000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:189251200-189269400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:189251200-189269400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:189251200-189270000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:189251200-189270200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:189251800-189263600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:189252400-189262400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr2:189254800-189267200	Weak transcription	Ovary	ovary
11	chr2:189255400-189262400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr2:189256000-189270600	Weak transcription	Fetal Lung	lung
13	chr2:189256400-189269000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:189258600-189263600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:189258800-189262200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:189258800-189262400	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr2:189258800-189263400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr2:189259800-189262600	Enhancers	Gastric	stomach
19	chr2:189260800-189262400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr2:189261200-189262200	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr2:189261200-189263400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr2:189261200-189268400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:189261400-189263600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:189261400-189269200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr2:189261400-189269400	Weak transcription	Placenta	Placenta
26	chr2:189261600-189268400	Weak transcription	Fetal Intestine Small	intestine
27	chr2:189261600-189270000	Weak transcription	Fetal Muscle Trunk	muscle
28	chr2:189261800-189262400	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr2:189261800-189264000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr2:189261800-189269200	Weak transcription	Fetal Stomach	stomach
31	chr2:189261800-189269800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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