Variant report

Variant	rs73178519
Chromosome Location	chr7:100751254-100751255
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100749240..100751319-chr7:100753473..100755309,2	K562	blood:
2	chr7:100751112..100754051-chr7:100759784..100762309,3	MCF-7	breast:
3	chr7:100748557..100751885-chr7:100761807..100763776,3	MCF-7	breast:
4	chr7:100749234..100751319-chr7:100752722..100755802,5	K562	blood:
5	chr7:100731272..100734037-chr7:100750691..100752349,2	K562	blood:
6	chr7:100750163..100751939-chr7:100756081..100757683,2	MCF-7	breast:
7	chr7:100749902..100752214-chr7:100764849..100766479,2	MCF-7	breast:
8	chr7:100751228..100753347-chr7:100760665..100763411,4	K562	blood:
9	chr7:100737701..100741221-chr7:100750993..100753482,3	MCF-7	breast:
10	chr7:100750619..100754326-chr7:100769826..100772467,4	MCF-7	breast:
11	chr7:100750302..100752925-chr7:100778093..100782237,4	MCF-7	breast:
12	chr7:100751173..100754073-chr7:100768865..100771330,2	MCF-7	breast:
13	chr7:100747760..100750554-chr7:100750656..100752898,2	K562	blood:
14	chr7:100741837..100746865-chr7:100749791..100753773,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000106366	Chromatin interaction
ENSG00000169871	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10953322	0.83[EUR][1000 genomes]
rs11761555	0.83[EUR][1000 genomes]
rs11770414	0.89[ASN][1000 genomes]
rs11772356	0.87[ASN][1000 genomes]
rs11972491	0.87[EUR][1000 genomes]
rs11973843	0.85[EUR][1000 genomes]
rs11980635	0.86[EUR][1000 genomes]
rs12667943	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12668231	0.85[EUR][1000 genomes]
rs13232139	0.89[ASN][1000 genomes]
rs28651567	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4422700	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57569772	0.85[EUR][1000 genomes]
rs57656984	0.84[ASN][1000 genomes]
rs66492618	0.85[EUR][1000 genomes]
rs67520893	0.87[EUR][1000 genomes]
rs67568738	0.87[EUR][1000 genomes]
rs73178512	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7786422	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9791726	0.80[ASN][1000 genomes]
rs9792109	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031942	chr7:100606734-100788660	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv1833777	chr7:100632790-100800131	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1033081	chr7:100669629-100771824	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv831075	chr7:100692297-100917018	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
6	nsv1030604	chr7:100717732-101223465	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
7	nsv464649	chr7:100739682-100810983	Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv607972	chr7:100739682-100810983	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	esv2422376	chr7:100743485-101016471	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100733600-100755400	Weak transcription	Aorta	Aorta
2	chr7:100744000-100751800	Weak transcription	Left Ventricle	heart
3	chr7:100744400-100751600	Weak transcription	Ovary	ovary
4	chr7:100745200-100751600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:100745400-100751600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr7:100745600-100751800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:100745600-100752200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:100747000-100752000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr7:100747200-100751600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:100747600-100751600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:100747600-100751600	Weak transcription	HSMMtube	muscle
12	chr7:100747600-100755400	Weak transcription	NHLF	lung
13	chr7:100747600-100760400	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr7:100747800-100751600	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr7:100747800-100752200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr7:100747800-100760600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr7:100748400-100751600	Weak transcription	HMEC	breast
18	chr7:100748600-100751600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr7:100748600-100751600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr7:100748600-100751600	Weak transcription	NHEK	skin
21	chr7:100748600-100751800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr7:100748600-100751800	Weak transcription	Lung	lung
23	chr7:100748600-100751800	Weak transcription	Osteobl	bone
24	chr7:100748600-100752200	Weak transcription	Right Atrium	heart
25	chr7:100749400-100752200	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr7:100750000-100751600	Weak transcription	K562	blood
27	chr7:100750000-100760200	Weak transcription	Hela-S3	cervix
28	chr7:100750400-100752600	Enhancers	Spleen	Spleen
29	chr7:100750600-100752200	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr7:100750800-100752000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr7:100750800-100752400	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr7:100750800-100752600	Enhancers	Adipose Nuclei	Adipose
33	chr7:100750800-100752800	Enhancers	GM12878-XiMat	blood
34	chr7:100750800-100753000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr7:100750800-100753400	Enhancers	NHDF-Ad	bronchial
36	chr7:100750800-100753600	Enhancers	Muscle Satellite Cultured Cells	--
37	chr7:100750800-100753600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr7:100750800-100756600	Enhancers	HUVEC	blood vessel
39	chr7:100751000-100751600	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr7:100751000-100751800	Enhancers	Liver	Liver
41	chr7:100751000-100751800	Enhancers	A549	lung
42	chr7:100751000-100752400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr7:100751000-100752400	Enhancers	Brain Hippocampus Middle	brain
44	chr7:100751000-100752600	Enhancers	NH-A	brain
45	chr7:100751000-100752800	Enhancers	Esophagus	oesophagus
46	chr7:100751000-100752800	Enhancers	Fetal Muscle Trunk	muscle
47	chr7:100751000-100752800	Flanking Active TSS	HepG2	liver
48	chr7:100751000-100753000	Enhancers	HSMM	muscle
49	chr7:100751000-100753400	Enhancers	Placenta	Placenta
50	chr7:100751200-100751400	Enhancers	Psoas Muscle	Psoas

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