Variant report

Variant	rs11671272
Chromosome Location	chr19:42974892-42974893
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:42968131..42971103-chr19:42973928..42976779,2	MCF-7	breast:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10084159	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10401271	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10402677	0.82[EUR][1000 genomes]
rs10403517	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10405445	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10405906	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10412463	0.85[EUR][1000 genomes]
rs10413413	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10416089	0.92[EUR][1000 genomes]
rs10422987	0.85[EUR][1000 genomes]
rs10469284	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10469285	0.86[AMR][1000 genomes]
rs11665870	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11665935	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11666350	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11668460	0.85[AMR][1000 genomes]
rs11668599	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11670316	0.83[AMR][1000 genomes]
rs11671846	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11673645	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11879306	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11881517	0.85[EUR][1000 genomes]
rs11882150	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12611218	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13343936	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16975789	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16975865	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16975890	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28411988	0.85[EUR][1000 genomes]
rs4080606	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55850134	0.93[EUR][1000 genomes]
rs60313903	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7253056	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8102439	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8102519	0.82[EUR][1000 genomes]
rs8103285	0.82[EUR][1000 genomes]
rs8103891	0.85[EUR][1000 genomes]
rs8106570	0.82[EUR][1000 genomes]
rs8107152	0.82[EUR][1000 genomes]
rs8107254	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8107790	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8112156	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs851298	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs851301	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs851302	0.82[EUR][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	nsv526186	chr19:42676481-43203507	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
2	esv2422471	chr19:42733141-43669485	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42960200-42975600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:42969400-42975200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr19:42970600-42976400	Enhancers	HSMM	muscle
4	chr19:42970800-42975000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr19:42970800-42975600	Weak transcription	Stomach Mucosa	stomach
6	chr19:42971000-42975400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr19:42971000-42975800	Weak transcription	Colonic Mucosa	Colon
8	chr19:42971000-42978000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr19:42971200-42975600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr19:42971600-42975000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr19:42971600-42978000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr19:42971600-42979000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr19:42971800-42975600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr19:42972600-42975200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr19:42972600-42975400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr19:42972600-42979200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr19:42972800-42975200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr19:42972800-42975200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr19:42972800-42975400	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr19:42972800-42975600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr19:42972800-42975800	Weak transcription	Fetal Intestine Small	intestine
22	chr19:42972800-42976600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr19:42972800-42977000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr19:42973000-42975800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr19:42973400-42976400	Enhancers	HepG2	liver
26	chr19:42973800-42981400	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr19:42974200-42975400	Weak transcription	Hela-S3	cervix
28	chr19:42974200-42975600	Weak transcription	HSMMtube	muscle
29	chr19:42974200-42976000	Weak transcription	A549	lung
30	chr19:42974200-42977800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr19:42974200-42980200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr19:42974400-42975400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr19:42974400-42975800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr19:42974400-42975800	Weak transcription	Adipose Nuclei	Adipose
35	chr19:42974400-42977200	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr19:42974400-42977800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr19:42974400-42984800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr19:42974600-42975000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr19:42974600-42979000	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr19:42974600-42980200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr19:42974800-42977600	Enhancers	H1 Cell Line	embryonic stem cell

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