Variant report

Variant	rs11973309
Chromosome Location	chr7:127755299-127755300
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127745939..127747505-chr7:127754984..127756729,2	K562	blood:
2	chr7:127755171..127759390-chr7:127760267..127762582,4	K562	blood:
3	chr7:127753827..127756427-chr7:127766047..127767569,2	K562	blood:
4	chr7:127748855..127752191-chr7:127753186..127755504,3	MCF-7	breast:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11973652	1.00[YRI][hapmap]
rs11974695	1.00[AFR][1000 genomes]
rs11978419	1.00[YRI][hapmap]
rs11979138	1.00[AFR][1000 genomes]
rs28613957	0.90[AFR][1000 genomes]
rs322805	0.90[AFR][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	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127744600-127761600	Weak transcription	Right Atrium	heart
2	chr7:127752800-127755800	Weak transcription	Esophagus	oesophagus
3	chr7:127753200-127755400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr7:127753200-127755400	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr7:127753400-127757200	Weak transcription	Primary B cells from cord blood	blood
6	chr7:127753400-127757400	Weak transcription	Fetal Thymus	thymus
7	chr7:127753400-127762000	Weak transcription	Fetal Brain Female	brain
8	chr7:127753800-127757200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:127754600-127756800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr7:127755000-127755600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:127755000-127756200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr7:127755000-127756400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr7:127755000-127756400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr7:127755000-127757200	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr7:127755200-127755400	Bivalent Enhancer	NHDF-Ad	bronchial
16	chr7:127755200-127755400	Enhancers	NHEK	skin
17	chr7:127755200-127755600	Weak transcription	Spleen	Spleen
18	chr7:127755200-127755800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr7:127755200-127755800	Enhancers	NH-A	brain
20	chr7:127755200-127756000	Enhancers	HSMM	muscle
21	chr7:127755200-127756200	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr7:127755200-127756400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
23	chr7:127755200-127756400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr7:127755200-127756600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr7:127755200-127756600	Enhancers	HMEC	breast
26	chr7:127755200-127757200	Enhancers	Placenta	Placenta

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