Variant report

Variant	rs73472894
Chromosome Location	chr7:116606836-116606837
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	7:116604327-116608063..7:117326534-117332210	Hela-S3	cervix:
2	7:116604327-116608063..7:116782481-116788433	GM12878	blood:
3	7:116604327-116608063..7:117341506-117356953	H1-hESC	embryonic stem cell:	embryo
4	chr7:116590784..116596766-chr7:116599392..116609813,21	MCF-7	breast:
5	7:116604327-116608063..7:116827014-116829381	GM12878	blood:

Variant related genes	Relation type
ENSG00000227199	Chromatin interaction
ENSG00000004866	Chromatin interaction
ENSG00000227532	Chromatin interaction
ENSG00000214188	Chromatin interaction
ENSG00000226367	Chromatin interaction
ENSG00000001626	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10228703	1.00[AFR][1000 genomes]
rs10236117	0.88[AFR][1000 genomes]
rs10251673	0.96[AFR][1000 genomes]
rs10259701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10261102	0.83[AMR][1000 genomes]
rs10275342	1.00[AFR][1000 genomes]
rs28428685	0.83[AMR][1000 genomes]
rs28437308	0.83[AMR][1000 genomes]
rs28595493	0.83[AMR][1000 genomes]
rs57013377	0.95[AFR][1000 genomes]
rs73473260	1.00[AMR][1000 genomes]
rs73475046	0.98[AFR][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	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	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
3	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:45 , 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	chr7:116595600-116617200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr7:116596400-116616600	Weak transcription	Osteobl	bone
6	chr7:116596400-116622200	Weak transcription	Fetal Intestine Large	intestine
7	chr7:116596600-116612000	Weak transcription	Fetal Intestine Small	intestine
8	chr7:116596600-116617400	Weak transcription	Fetal Muscle Leg	muscle
9	chr7:116596800-116607200	Weak transcription	Brain Hippocampus Middle	brain
10	chr7:116596800-116609600	Weak transcription	Right Atrium	heart
11	chr7:116596800-116609600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr7:116596800-116617200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr7:116597000-116641600	Weak transcription	Ovary	ovary
14	chr7:116597200-116610000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr7:116597800-116610200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr7:116598200-116607400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr7:116598400-116610400	Weak transcription	HepG2	liver
18	chr7:116598400-116617600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr7:116598800-116609800	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr7:116598800-116609800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr7:116598800-116610400	Weak transcription	Left Ventricle	heart
22	chr7:116598800-116630400	Weak transcription	Aorta	Aorta
23	chr7:116599200-116611800	Weak transcription	Right Ventricle	heart
24	chr7:116599600-116609600	Weak transcription	K562	blood
25	chr7:116600600-116607200	Weak transcription	Pancreas	Pancrea
26	chr7:116600600-116613400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr7:116600600-116620200	Weak transcription	Lung	lung
28	chr7:116603400-116617800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr7:116603600-116610600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr7:116604600-116609400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr7:116604600-116609600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr7:116604800-116610200	Weak transcription	Liver	Liver
33	chr7:116605800-116608200	Enhancers	GM12878-XiMat	blood
34	chr7:116606600-116607400	Enhancers	NHDF-Ad	bronchial
35	chr7:116606600-116607600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr7:116606600-116607600	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr7:116606600-116611000	Enhancers	Fetal Heart	heart
38	chr7:116606800-116607000	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr7:116606800-116607000	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr7:116606800-116607000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr7:116606800-116607000	Enhancers	Psoas Muscle	Psoas
42	chr7:116606800-116607600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr7:116606800-116607600	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr7:116606800-116607600	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr7:116606800-116607600	Enhancers	Hela-S3	cervix

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