Variant report

Variant	rs7751794
Chromosome Location	chr6:82854493-82854494
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:82848559..82851621-chr6:82851762..82855023,3	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10085318	0.84[EUR][1000 genomes]
rs10485091	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12333288	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16893914	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28449783	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4263626	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4294052	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs5017105	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56850863	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56970608	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs57046652	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61537617	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6924009	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7740829	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9294245	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9443950	0.84[EUR][1000 genomes]
rs9443957	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9443958	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9443959	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9443962	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9443965	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9449395	0.80[EUR][1000 genomes]
rs9449399	0.80[EUR][1000 genomes]
rs9449400	0.80[EUR][1000 genomes]
rs9449410	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9449422	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9449424	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9449428	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9449429	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9449430	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9449432	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9449433	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][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	nsv1021464	chr6:82738920-82876526	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv830713	chr6:82761201-82953570	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv830715	chr6:82806657-82956327	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv7937	chr6:82840235-83244788	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:82852800-82854800	Enhancers	Adipose Nuclei	Adipose
2	chr6:82852800-82855200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr6:82852800-82875800	Weak transcription	Liver	Liver
4	chr6:82853000-82855600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr6:82853200-82854600	Enhancers	Fetal Intestine Large	intestine
6	chr6:82853200-82854800	Enhancers	Fetal Intestine Small	intestine
7	chr6:82853200-82855600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:82853200-82855800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr6:82853400-82855200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:82853400-82855200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr6:82853400-82855200	Flanking Active TSS	A549	lung
12	chr6:82853400-82855200	Enhancers	HepG2	liver
13	chr6:82853600-82855000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:82853600-82855000	Enhancers	Rectal Smooth Muscle	rectum
15	chr6:82853600-82855200	Flanking Active TSS	Hela-S3	cervix
16	chr6:82853600-82855200	Flanking Active TSS	Osteobl	bone
17	chr6:82853600-82855600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr6:82853800-82854600	Enhancers	Placenta Amnion	Placenta Amnion
19	chr6:82853800-82854600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr6:82853800-82854800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr6:82853800-82855000	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr6:82853800-82855000	Enhancers	Colon Smooth Muscle	Colon
23	chr6:82853800-82855000	Enhancers	Stomach Mucosa	stomach
24	chr6:82854000-82854600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr6:82854000-82854600	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr6:82854000-82854800	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr6:82854000-82854800	Flanking Active TSS	HSMMtube	muscle
28	chr6:82854000-82855000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr6:82854000-82855000	Enhancers	Brain Angular Gyrus	brain
30	chr6:82854000-82855000	Enhancers	Brain Cingulate Gyrus	brain
31	chr6:82854000-82855000	Enhancers	Fetal Muscle Leg	muscle
32	chr6:82854000-82855000	Enhancers	Ovary	ovary
33	chr6:82854000-82855000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr6:82854000-82855200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr6:82854200-82854600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr6:82854200-82854600	Enhancers	Aorta	Aorta
37	chr6:82854200-82854600	Enhancers	Brain Hippocampus Middle	brain
38	chr6:82854200-82854600	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr6:82854200-82854600	Flanking Active TSS	Fetal Heart	heart
40	chr6:82854200-82854600	Enhancers	Fetal Kidney	kidney
41	chr6:82854200-82854600	Flanking Active TSS	HSMM	muscle
42	chr6:82854200-82854600	Flanking Active TSS	NHLF	lung
43	chr6:82854200-82854800	Enhancers	Brain Anterior Caudate	brain
44	chr6:82854200-82854800	Enhancers	Brain Substantia Nigra	brain
45	chr6:82854200-82854800	Enhancers	GM12878-XiMat	blood
46	chr6:82854200-82855000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr6:82854200-82855000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr6:82854200-82855000	Enhancers	Duodenum Mucosa	Duodenum
49	chr6:82854200-82855000	Enhancers	Pancreatic Islets	Pancreatic Islet
50	chr6:82854200-82855200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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