Variant report

Variant	rs6710133
Chromosome Location	chr2:172119157-172119158
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:172118370..172120069-chr2:172136015..172138114,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10203533	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10211242	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13382769	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs13396177	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13401549	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4667680	0.82[EUR][1000 genomes]
rs4668378	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55686118	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs55794741	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7583440	0.82[EUR][1000 genomes]
rs9287943	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172102800-172127400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:172103200-172120000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:172116800-172119600	Enhancers	Primary hematopoietic stem cells	blood
4	chr2:172116800-172120000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr2:172117400-172119600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:172117400-172120400	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr2:172117600-172119200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr2:172117600-172122400	Weak transcription	Primary B cells from cord blood	blood
9	chr2:172117600-172122600	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr2:172117800-172120200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:172118000-172119200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:172118200-172119200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:172118200-172119200	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr2:172118400-172122400	Weak transcription	Primary B cells from peripheral blood	blood
15	chr2:172118600-172119200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:172118600-172124800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:172118800-172120400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr2:172118800-172127600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr2:172119000-172119200	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr2:172119000-172119200	Active TSS	Colon Smooth Muscle	Colon
21	chr2:172119000-172119200	Active TSS	Stomach Smooth Muscle	stomach
22	chr2:172119000-172120000	Weak transcription	GM12878-XiMat	blood
23	chr2:172119000-172120200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr2:172119000-172124000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr2:172119000-172124200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr2:172119000-172124400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:172119000-172124400	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr2:172119000-172128200	Weak transcription	HUES6 Cell Line	embryonic stem cell

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