Variant report

Variant	rs2305815
Chromosome Location	chr1:150956947-150956948
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:150955685..150958316-chr1:150971116..150974033,3	MCF-7	breast:
2	chr1:150954755..150957126-chr1:150972520..150975361,2	K562	blood:
3	chr1:150955422..150957102-chr1:151020210..151022456,2	K562	blood:
4	chr1:150955747..150957979-chr1:150977182..150980115,2	K562	blood:
5	chr1:150951084..150953153-chr1:150955362..150957239,2	K562	blood:
6	chr1:150952182..150958148-chr1:150976816..150982947,12	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143363	Chromatin interaction
ENSG00000143409	Chromatin interaction
ENSG00000143443	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11579289	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12040707	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12042263	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12044969	0.98[ASN][1000 genomes]
rs16832604	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2305812	0.92[ASN][1000 genomes]
rs267736	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28730723	1.00[AFR][1000 genomes]
rs34090972	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3754210	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs533928	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs539118	0.96[ASN][1000 genomes]
rs61817649	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6671489	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6679701	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6688248	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72706512	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7521445	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7535032	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7535848	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs771203	0.96[ASN][1000 genomes]
rs771204	0.96[ASN][1000 genomes]
rs771205	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv1008496	chr1:150845827-150970656	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	nsv522317	chr1:150933723-150974162	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
5	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150952000-150968000	Weak transcription	Spleen	Spleen
2	chr1:150952600-150957800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:150952600-150960800	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr1:150952600-150968000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:150953600-150959000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:150954200-150969400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:150954400-150957600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr1:150954600-150957800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:150954800-150968000	Weak transcription	Fetal Kidney	kidney
10	chr1:150955000-150969400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr1:150955200-150957600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:150955400-150957200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:150955400-150957400	Weak transcription	K562	blood
14	chr1:150955400-150957800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:150955400-150957800	Weak transcription	A549	lung
16	chr1:150955400-150969400	Weak transcription	Gastric	stomach
17	chr1:150955400-150970400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:150955400-150978800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr1:150955600-150957400	Weak transcription	Hela-S3	cervix
20	chr1:150955600-150967600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:150955600-150968200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:150955800-150967600	Weak transcription	Fetal Intestine Small	intestine
23	chr1:150956200-150957400	Weak transcription	HepG2	liver
24	chr1:150956200-150958600	Weak transcription	Liver	Liver
25	chr1:150956200-150969400	Weak transcription	Fetal Intestine Large	intestine
26	chr1:150956600-150958200	Enhancers	Pancreas	Pancrea

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