Variant report

Variant	rs55733320
Chromosome Location	chr7:120485427-120485428
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	chr7:120483102..120485878-chr7:120487827..120490041,2	MCF-7	breast:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs114420	0.93[ASN][1000 genomes]
rs11976580	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12673417	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17132731	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17142976	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17143013	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2189974	0.93[ASN][1000 genomes]
rs2525706	0.81[ASN][1000 genomes]
rs2525710	0.81[ASN][1000 genomes]
rs2721329	0.81[ASN][1000 genomes]
rs2721330	0.81[ASN][1000 genomes]
rs2721332	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2721344	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2721346	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2721348	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2721360	0.93[ASN][1000 genomes]
rs2721371	0.93[ASN][1000 genomes]
rs41613	1.00[ASN][1000 genomes]
rs41616	1.00[ASN][1000 genomes]
rs41617	1.00[ASN][1000 genomes]
rs41622	1.00[ASN][1000 genomes]
rs41623	1.00[ASN][1000 genomes]
rs41626	1.00[ASN][1000 genomes]
rs42333	1.00[ASN][1000 genomes]
rs4730982	1.00[ASN][1000 genomes]
rs55749650	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56023697	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56067931	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61481874	0.93[ASN][1000 genomes]
rs67679138	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73427871	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73427873	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73427878	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73721472	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7805733	1.00[ASN][1000 genomes]
rs7810542	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs886440	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[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	esv1818826	chr7:120405335-120622836	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv5929	chr7:120467591-120513472	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120443000-120488000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr7:120445200-120494400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr7:120468600-120487600	Weak transcription	Lung	lung
4	chr7:120474000-120492400	Weak transcription	Fetal Lung	lung
5	chr7:120474000-120496400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr7:120474600-120496600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr7:120476600-120492400	Weak transcription	Gastric	stomach
8	chr7:120477000-120489800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr7:120477000-120492400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr7:120477200-120496200	Weak transcription	Aorta	Aorta
11	chr7:120478400-120487400	Weak transcription	Colonic Mucosa	Colon
12	chr7:120479400-120488000	Weak transcription	Right Atrium	heart
13	chr7:120479600-120494000	Weak transcription	HUVEC	blood vessel
14	chr7:120480000-120488000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr7:120482600-120495200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr7:120482600-120496200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr7:120482800-120487400	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr7:120482800-120492200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr7:120482800-120496400	Weak transcription	Liver	Liver
20	chr7:120482800-120496400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr7:120482800-120496600	Weak transcription	Stomach Mucosa	stomach
22	chr7:120483400-120485800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:120483400-120496200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr7:120483400-120496400	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr7:120483600-120487600	Weak transcription	Colon Smooth Muscle	Colon
26	chr7:120483600-120496600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr7:120483800-120486000	Weak transcription	Right Ventricle	heart
28	chr7:120484000-120485800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr7:120484400-120486600	Weak transcription	Fetal Kidney	kidney
30	chr7:120485000-120486400	Enhancers	Fetal Heart	heart
31	chr7:120485000-120488000	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr7:120485000-120488600	Enhancers	Fetal Intestine Large	intestine
33	chr7:120485000-120493800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr7:120485200-120485600	Weak transcription	Small Intestine	intestine
35	chr7:120485200-120486400	Enhancers	Duodenum Mucosa	Duodenum
36	chr7:120485200-120487000	Weak transcription	Left Ventricle	heart
37	chr7:120485200-120496200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr7:120485200-120496200	Weak transcription	Fetal Stomach	stomach
39	chr7:120485200-120496600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr7:120485200-120496600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:120485400-120485600	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr7:120485400-120485600	Weak transcription	Fetal Intestine Small	intestine
43	chr7:120485400-120489800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr7:120485400-120489800	Weak transcription	Fetal Muscle Leg	muscle
45	chr7:120485400-120496400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr7:120485400-120496400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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