Variant report

Variant	rs45446391
Chromosome Location	chr7:128853575-128853576
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:128694094..128696181-chr7:128851844..128853583,2	K562	blood:
2	chr7:128803563..128804441-chr7:128853426..128854295,2	K562	blood:
3	chr7:128803493..128804383-chr7:128853438..128854352,5	MCF-7	breast:
4	chr7:128849557..128852141-chr7:128852235..128854201,2	K562	blood:
5	chr7:128730793..128732096-chr7:128853501..128854381,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000128602	Chromatin interaction
ENSG00000230359	Chromatin interaction
ENSG00000064419	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1061280	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1061285	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13237986	0.97[ASN][1000 genomes]
rs2075777	0.88[ASN][1000 genomes]
rs2075778	0.89[ASN][1000 genomes]
rs2075779	0.89[ASN][1000 genomes]
rs2075780	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2228617	0.86[ASN][1000 genomes]
rs2566872	0.89[ASN][1000 genomes]
rs2701316	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2703091	0.89[ASN][1000 genomes]
rs2703093	0.91[ASN][1000 genomes]
rs2718110	0.87[ASN][1000 genomes]
rs2718111	0.80[EUR][1000 genomes]
rs2735842	0.91[ASN][1000 genomes]
rs2735843	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2735844	0.91[ASN][1000 genomes]
rs3824	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4728158	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9607	0.92[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	nsv831127	chr7:128716256-128874691	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128830600-128861800	Weak transcription	Thymus	Thymus
2	chr7:128834600-128853800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:128839600-128853600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:128840800-128854200	Strong transcription	Fetal Stomach	stomach
5	chr7:128841400-128855600	Weak transcription	HSMM	muscle
6	chr7:128842400-128864000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr7:128843200-128864000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr7:128843400-128864200	Weak transcription	Spleen	Spleen
9	chr7:128843600-128858200	Weak transcription	Dnd41	blood
10	chr7:128843800-128853800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr7:128844600-128863800	Weak transcription	Fetal Brain Male	brain
12	chr7:128844800-128864000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr7:128845800-128863600	Weak transcription	Colonic Mucosa	Colon
14	chr7:128846200-128853600	Weak transcription	HSMMtube	muscle
15	chr7:128846600-128858400	Weak transcription	Left Ventricle	heart
16	chr7:128846600-128862200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr7:128847000-128854000	Weak transcription	GM12878-XiMat	blood
18	chr7:128847200-128864000	Weak transcription	Psoas Muscle	Psoas
19	chr7:128847600-128854600	Weak transcription	NHLF	lung
20	chr7:128847600-128858400	Weak transcription	Adipose Nuclei	Adipose
21	chr7:128847600-128864000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr7:128849200-128853800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr7:128849400-128855400	Weak transcription	Aorta	Aorta
24	chr7:128849600-128858600	Weak transcription	Primary hematopoietic stem cells	blood
25	chr7:128849800-128864000	Weak transcription	Fetal Kidney	kidney
26	chr7:128850400-128854200	Weak transcription	NHEK	skin
27	chr7:128850800-128853800	Weak transcription	Gastric	stomach
28	chr7:128850800-128853800	Weak transcription	Right Atrium	heart
29	chr7:128850800-128854000	Weak transcription	Brain Hippocampus Middle	brain
30	chr7:128850800-128858200	Weak transcription	Brain Anterior Caudate	brain
31	chr7:128851000-128857200	Weak transcription	Right Ventricle	heart
32	chr7:128851000-128858200	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr7:128851600-128854000	Weak transcription	HepG2	liver
34	chr7:128851600-128858400	Weak transcription	Colon Smooth Muscle	Colon
35	chr7:128851600-128864200	Weak transcription	Esophagus	oesophagus
36	chr7:128851800-128854000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr7:128851800-128855000	Weak transcription	Pancreas	Pancrea
38	chr7:128851800-128858400	Weak transcription	Brain Substantia Nigra	brain
39	chr7:128852000-128853800	Weak transcription	Placenta	Placenta
40	chr7:128852000-128856200	Weak transcription	Fetal Brain Female	brain
41	chr7:128852200-128857000	Weak transcription	A549	lung
42	chr7:128852400-128854200	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr7:128852600-128853800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr7:128852600-128855200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr7:128852600-128864000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr7:128852800-128853600	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr7:128852800-128854200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr7:128852800-128855000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr7:128852800-128855400	Weak transcription	Fetal Intestine Large	intestine
50	chr7:128852800-128858200	Weak transcription	Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links