Variant report

Variant	rs73473268
Chromosome Location	chr7:116600563-116600564
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:116599684..116602391-chr7:116609129..116611076,2	MCF-7	breast:
2	7:115847372-115857098..7:116599334-116604327	K562	blood:
3	chr7:116590784..116596766-chr7:116599392..116609813,21	MCF-7	breast:
4	7:116599334-116604327..7:116754962-116765597	GM12878	blood:

Variant related genes	Relation type
ENSG00000227199	Chromatin interaction
ENSG00000214188	Chromatin interaction
ENSG00000135269	Chromatin interaction
ENSG00000004866	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs73472897	0.88[AFR][1000 genomes]
rs73472900	0.88[AFR][1000 genomes]
rs73473262	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7776604	0.88[AFR][1000 genomes]
rs7782644	0.88[AFR][1000 genomes]
rs7789152	0.88[AFR][1000 genomes]
rs9771438	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831107	chr7:116414734-116649466	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv889074	chr7:116552859-116604194	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv889075	chr7:116552859-116610237	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv889073	chr7:116552859-116611113	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116595000-116608600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:116595200-116621600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:116595400-116608600	Weak transcription	HSMM	muscle
4	chr7:116595600-116602800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr7:116595600-116617200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr7:116596200-116601000	Weak transcription	NHEK	skin
7	chr7:116596400-116616600	Weak transcription	Osteobl	bone
8	chr7:116596400-116622200	Weak transcription	Fetal Intestine Large	intestine
9	chr7:116596600-116600800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:116596600-116606600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr7:116596600-116606800	Weak transcription	Hela-S3	cervix
12	chr7:116596600-116612000	Weak transcription	Fetal Intestine Small	intestine
13	chr7:116596600-116617400	Weak transcription	Fetal Muscle Leg	muscle
14	chr7:116596800-116603600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr7:116596800-116606200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr7:116596800-116606800	Weak transcription	Psoas Muscle	Psoas
17	chr7:116596800-116607200	Weak transcription	Brain Hippocampus Middle	brain
18	chr7:116596800-116609600	Weak transcription	Right Atrium	heart
19	chr7:116596800-116609600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr7:116596800-116617200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr7:116597000-116641600	Weak transcription	Ovary	ovary
22	chr7:116597200-116602400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr7:116597200-116602800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr7:116597200-116610000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr7:116597800-116610200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr7:116598200-116607400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr7:116598400-116610400	Weak transcription	HepG2	liver
28	chr7:116598400-116617600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr7:116598800-116609800	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr7:116598800-116609800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr7:116598800-116610400	Weak transcription	Left Ventricle	heart
32	chr7:116598800-116630400	Weak transcription	Aorta	Aorta
33	chr7:116599200-116611800	Weak transcription	Right Ventricle	heart
34	chr7:116599400-116600800	Enhancers	GM12878-XiMat	blood
35	chr7:116599600-116609600	Weak transcription	K562	blood
36	chr7:116600000-116601200	Enhancers	Fetal Heart	heart
37	chr7:116600200-116600600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr7:116600200-116600600	Genic enhancers	Lung	lung
39	chr7:116600200-116600600	Enhancers	Pancreas	Pancrea

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