Variant report

Variant	rs337145
Chromosome Location	chr1:220931792-220931793
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	chr1:220920704..220923005-chr1:220929506..220932087,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000117791	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs337138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs337143	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs337149	1.00[ASN][1000 genomes]
rs337151	1.00[ASN][1000 genomes]
rs371348	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs434167	1.00[ASN][1000 genomes]
rs434188	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs447861	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs774148	1.00[ASN][1000 genomes]
rs774149	1.00[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	nsv523389	chr1:220926844-220956012	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220922400-220932200	Weak transcription	HSMMtube	muscle
2	chr1:220922600-220943800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:220922600-220946400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:220922800-220959600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr1:220922800-220959600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr1:220923200-220948000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:220924200-220936000	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr1:220924600-220936800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:220924600-220944000	Weak transcription	Brain Hippocampus Middle	brain
10	chr1:220924800-220945600	Weak transcription	Osteobl	bone
11	chr1:220925000-220946000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr1:220925000-220959400	Weak transcription	Brain Angular Gyrus	brain
13	chr1:220925200-220942000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr1:220925200-220943400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr1:220925400-220950200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr1:220925800-220931800	Strong transcription	Fetal Intestine Small	intestine
17	chr1:220925800-220938400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr1:220927000-220933000	Weak transcription	Right Ventricle	heart
19	chr1:220927200-220933200	Weak transcription	Small Intestine	intestine
20	chr1:220927600-220934400	Weak transcription	Stomach Mucosa	stomach
21	chr1:220927800-220938600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:220928000-220933600	Strong transcription	Fetal Stomach	stomach
23	chr1:220929400-220940600	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr1:220929600-220931800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:220929600-220934600	Weak transcription	HepG2	liver
26	chr1:220929600-220935800	Weak transcription	Esophagus	oesophagus
27	chr1:220929600-220943000	Weak transcription	Brain Germinal Matrix	brain
28	chr1:220929800-220933200	Weak transcription	Fetal Heart	heart
29	chr1:220929800-220940800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr1:220930000-220934600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr1:220930000-220940600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr1:220930000-220942400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr1:220930000-220943400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr1:220930000-220946000	Weak transcription	Fetal Brain Female	brain
35	chr1:220930000-220950000	Weak transcription	Fetal Brain Male	brain
36	chr1:220930000-220950200	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr1:220930000-220950400	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr1:220930000-220959600	Weak transcription	Psoas Muscle	Psoas
39	chr1:220930200-220935200	Weak transcription	Placenta	Placenta
40	chr1:220930200-220935800	Weak transcription	Colonic Mucosa	Colon
41	chr1:220930200-220936200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr1:220930200-220937800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr1:220930200-220940800	Weak transcription	NHLF	lung
44	chr1:220930200-220944000	Weak transcription	Colon Smooth Muscle	Colon
45	chr1:220930200-220950000	Weak transcription	Brain Anterior Caudate	brain
46	chr1:220930400-220934600	Weak transcription	Stomach Smooth Muscle	stomach
47	chr1:220930400-220950000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr1:220930400-220959600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr1:220930600-220932800	Weak transcription	Aorta	Aorta
50	chr1:220930600-220950000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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