Variant report

Variant	rs6816209
Chromosome Location	chr4:54510874-54510875
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:54457408..54459119-chr4:54508678..54511662,2	MCF-7	breast:
2	chr4:54510430..54512515-chr4:54515785..54518335,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000072201	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10005578	0.92[ASN][1000 genomes]
rs10006267	0.92[ASN][1000 genomes]
rs10010205	0.92[ASN][1000 genomes]
rs10021678	0.90[ASN][1000 genomes]
rs10027185	1.00[ASN][1000 genomes]
rs10027544	0.99[ASN][1000 genomes]
rs10031525	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10031866	0.94[ASN][1000 genomes]
rs1039985	0.86[ASN][1000 genomes]
rs12645402	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13146347	0.97[ASN][1000 genomes]
rs13148245	0.92[ASN][1000 genomes]
rs1477878	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1477880	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17083218	0.92[ASN][1000 genomes]
rs17083272	0.87[ASN][1000 genomes]
rs17083277	0.86[ASN][1000 genomes]
rs1991972	0.97[ASN][1000 genomes]
rs1991973	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2086048	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2219742	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3942650	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4864809	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6554120	0.98[ASN][1000 genomes]
rs6554121	1.00[ASN][1000 genomes]
rs6818959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6822736	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6843799	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6849381	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6858782	0.98[ASN][1000 genomes]
rs750695	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7688605	0.97[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	nsv829936	chr4:54367783-54556123	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54506800-54511000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr4:54507200-54511000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr4:54507400-54511400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr4:54507400-54511600	Weak transcription	Right Ventricle	heart
5	chr4:54507800-54517000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr4:54507800-54520600	Weak transcription	Gastric	stomach
7	chr4:54508000-54511000	Weak transcription	Fetal Lung	lung
8	chr4:54508000-54512600	Weak transcription	Adipose Nuclei	Adipose
9	chr4:54508000-54519200	Weak transcription	Fetal Heart	heart
10	chr4:54509000-54511000	Enhancers	Stomach Mucosa	stomach
11	chr4:54509800-54512000	Enhancers	Fetal Intestine Large	intestine
12	chr4:54509800-54512200	Enhancers	Fetal Intestine Small	intestine
13	chr4:54509800-54513400	Enhancers	Pancreas	Pancrea
14	chr4:54510000-54511200	Weak transcription	Colonic Mucosa	Colon
15	chr4:54510400-54511400	Weak transcription	Small Intestine	intestine
16	chr4:54510400-54511800	Enhancers	GM12878-XiMat	blood
17	chr4:54510400-54512000	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr4:54510400-54513400	Enhancers	Duodenum Mucosa	Duodenum
19	chr4:54510600-54511400	Enhancers	NHEK	skin
20	chr4:54510600-54511600	Enhancers	Liver	Liver
21	chr4:54510600-54511800	Enhancers	Placenta	Placenta
22	chr4:54510600-54511800	Enhancers	HMEC	breast
23	chr4:54510800-54511000	Enhancers	Esophagus	oesophagus
24	chr4:54510800-54511200	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr4:54510800-54511400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr4:54510800-54511400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr4:54510800-54511400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr4:54510800-54511400	Enhancers	Placenta Amnion	Placenta Amnion
29	chr4:54510800-54511400	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr4:54510800-54511600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr4:54510800-54511600	Enhancers	Left Ventricle	heart
32	chr4:54510800-54511600	Enhancers	Lung	lung
33	chr4:54510800-54511800	Enhancers	Right Atrium	heart
34	chr4:54510800-54512600	Enhancers	Psoas Muscle	Psoas

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