Variant report

Variant	rs7754939
Chromosome Location	chr6:114252917-114252918
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	chr6:114252210..114254124-chr6:114261633..114264552,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs13203445	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13212283	0.89[ASN][1000 genomes]
rs1407459	0.82[ASN][1000 genomes]
rs2243356	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2475631	0.83[ASN][1000 genomes]
rs2499618	0.82[ASN][1000 genomes]
rs352062	0.85[ASN][1000 genomes]
rs352063	0.83[ASN][1000 genomes]
rs352066	0.86[ASN][1000 genomes]
rs352067	0.86[ASN][1000 genomes]
rs352093	0.83[ASN][1000 genomes]
rs3757016	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs498519	0.84[ASN][1000 genomes]
rs543139	0.83[ASN][1000 genomes]
rs6568820	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6917804	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021774	chr6:114063971-114407280	Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv538422	chr6:114063971-114407280	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv3363275	chr6:114101331-114302866	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:114242400-114265400	Weak transcription	Thymus	Thymus
2	chr6:114242600-114261000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr6:114242800-114260200	Weak transcription	HepG2	liver
4	chr6:114246000-114260200	Weak transcription	HUVEC	blood vessel
5	chr6:114246200-114254000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr6:114248600-114265400	Weak transcription	Fetal Heart	heart
7	chr6:114248800-114258800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr6:114251000-114260000	Weak transcription	NHDF-Ad	bronchial
9	chr6:114251400-114254200	Weak transcription	HSMM	muscle
10	chr6:114251800-114261200	Weak transcription	K562	blood
11	chr6:114252000-114253400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:114252000-114255400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr6:114252200-114253200	Weak transcription	Aorta	Aorta
14	chr6:114252200-114260400	Weak transcription	Esophagus	oesophagus
15	chr6:114252400-114255400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr6:114252400-114258400	Weak transcription	Primary T cells from cord blood	blood
17	chr6:114252400-114260000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr6:114252400-114261200	Weak transcription	Fetal Lung	lung
19	chr6:114252400-114265200	Weak transcription	Fetal Brain Male	brain
20	chr6:114252400-114266800	Weak transcription	Stomach Smooth Muscle	stomach
21	chr6:114252600-114253400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr6:114252600-114253600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr6:114252600-114255400	Weak transcription	Fetal Muscle Trunk	muscle
24	chr6:114252600-114255600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr6:114252600-114256200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr6:114252600-114260000	Weak transcription	GM12878-XiMat	blood
27	chr6:114252600-114260200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr6:114252600-114260200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr6:114252600-114261200	Weak transcription	Primary hematopoietic stem cells	blood
30	chr6:114252600-114262600	Weak transcription	Fetal Kidney	kidney
31	chr6:114252600-114263800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr6:114252600-114264600	Weak transcription	Left Ventricle	heart
33	chr6:114252800-114253400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr6:114252800-114254000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr6:114252800-114258400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr6:114252800-114258600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr6:114252800-114259400	Weak transcription	Osteobl	bone
38	chr6:114252800-114260000	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr6:114252800-114260000	Weak transcription	HMEC	breast
40	chr6:114252800-114260000	Weak transcription	NHEK	skin
41	chr6:114252800-114260200	Weak transcription	Brain Germinal Matrix	brain
42	chr6:114252800-114260200	Weak transcription	HSMMtube	muscle
43	chr6:114252800-114260600	Weak transcription	Primary B cells from cord blood	blood
44	chr6:114252800-114262200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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