Variant report

Variant	rs41217
Chromosome Location	chr14:71843635-71843636
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	chr14:71787763..71790118-chr14:71843574..71845366,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259146	Chromatin interaction
ENSG00000197555	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12878009	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12897119	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs193440	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs193441	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs193442	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs193443	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3088206	0.80[ASN][1000 genomes]
rs36528	0.85[ASN][1000 genomes]
rs36532	0.87[ASN][1000 genomes]
rs36535	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs41218	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs41219	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs41224	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs41225	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs41227	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs41229	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7153726	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7154208	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs8007271	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8007521	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8016217	0.81[EUR][1000 genomes]
rs8023058	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs917391	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[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	esv1831401	chr14:71786411-71845264	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr14:71832200-71843800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:71833200-71843800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr14:71837400-71855800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr14:71839000-71844800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr14:71839000-71845200	Weak transcription	Brain Angular Gyrus	brain
6	chr14:71839200-71843800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr14:71839600-71844600	Weak transcription	Primary B cells from cord blood	blood
8	chr14:71839600-71844600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr14:71839600-71844600	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr14:71839600-71844800	Weak transcription	Hela-S3	cervix
11	chr14:71839600-71845600	Weak transcription	Small Intestine	intestine
12	chr14:71839600-71847000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr14:71839600-71847000	Weak transcription	Colon Smooth Muscle	Colon
14	chr14:71839600-71847000	Weak transcription	HSMMtube	muscle
15	chr14:71839800-71845000	Weak transcription	NHLF	lung
16	chr14:71840000-71845000	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr14:71840200-71843800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr14:71840600-71843800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr14:71840600-71845600	Weak transcription	Stomach Mucosa	stomach
20	chr14:71840800-71844200	Weak transcription	Primary B cells from peripheral blood	blood
21	chr14:71840800-71844800	Weak transcription	NHEK	skin
22	chr14:71840800-71847000	Weak transcription	HSMM	muscle
23	chr14:71841000-71845200	Weak transcription	Fetal Heart	heart
24	chr14:71841600-71845000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr14:71841600-71845000	Weak transcription	Osteobl	bone
26	chr14:71841800-71844600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr14:71842000-71845000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr14:71842000-71845200	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr14:71843600-71844200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
30	chr14:71843600-71844200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr14:71843600-71844600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell

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