Variant report

Variant	rs55743914
Chromosome Location	chr6:128293562-128293563
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	chr6:128290855..128292622-chr6:128292665..128294749,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1089653	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs3190930	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35469349	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3933376	0.87[AFR][1000 genomes]
rs41285280	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4559105	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs802719	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs802725	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs802730	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs802731	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs802734	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs813915	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][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	nsv1024516	chr6:128184182-128298278	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv604642	chr6:128278798-128351143	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128278800-128297200	Weak transcription	Ovary	ovary
2	chr6:128280400-128304600	Weak transcription	Fetal Brain Male	brain
3	chr6:128285600-128307400	Weak transcription	Aorta	Aorta
4	chr6:128286800-128297000	Weak transcription	Lung	lung
5	chr6:128287000-128300200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:128287200-128294200	Weak transcription	Fetal Intestine Small	intestine
7	chr6:128287200-128309000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:128287400-128297200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr6:128287600-128297200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr6:128287600-128308600	Weak transcription	Esophagus	oesophagus
11	chr6:128287800-128303600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr6:128288000-128293600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr6:128288000-128296400	Weak transcription	Brain Angular Gyrus	brain
14	chr6:128288000-128304800	Weak transcription	Stomach Mucosa	stomach
15	chr6:128288000-128307600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr6:128288600-128297000	Weak transcription	Colonic Mucosa	Colon
17	chr6:128288600-128305400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr6:128288600-128306800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr6:128288600-128321800	Weak transcription	Small Intestine	intestine
20	chr6:128288800-128303800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr6:128289000-128302200	Weak transcription	Brain Germinal Matrix	brain
22	chr6:128289000-128431000	Weak transcription	Psoas Muscle	Psoas
23	chr6:128289600-128296800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr6:128289800-128293600	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr6:128290000-128308200	Strong transcription	HepG2	liver
26	chr6:128290400-128297200	Weak transcription	Fetal Kidney	kidney
27	chr6:128291200-128293600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr6:128291200-128304400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr6:128291600-128297400	Weak transcription	Colon Smooth Muscle	Colon
30	chr6:128291800-128302200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr6:128292000-128297000	Weak transcription	Fetal Brain Female	brain
32	chr6:128292200-128294000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr6:128292200-128295400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
34	chr6:128292200-128295800	Strong transcription	Fetal Intestine Large	intestine
35	chr6:128292400-128295800	Strong transcription	Left Ventricle	heart
36	chr6:128292400-128296600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr6:128292400-128299000	Strong transcription	Primary B cells from peripheral blood	blood
38	chr6:128292400-128306400	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr6:128292400-128307600	Strong transcription	Liver	Liver
40	chr6:128292600-128293600	Strong transcription	Pancreas	Pancrea
41	chr6:128292600-128294000	Flanking Active TSS	Primary T cells from cord blood	blood
42	chr6:128292600-128294200	Strong transcription	Fetal Heart	heart
43	chr6:128292600-128294400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr6:128292600-128294400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr6:128292600-128294400	Strong transcription	Fetal Lung	lung
46	chr6:128292600-128294400	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr6:128292600-128294400	Strong transcription	Stomach Smooth Muscle	stomach
48	chr6:128292600-128295000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr6:128292600-128295800	Strong transcription	HSMMtube	muscle
50	chr6:128292600-128296000	Genic enhancers	HUVEC	blood vessel

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