Variant report

Variant	rs7550599
Chromosome Location	chr1:185208012-185208013
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:185206677..185210985-chr1:185216927..185221202,5	K562	blood:
2	chr1:185207686..185208214-chr1:185529005..185529598,2	MCF-7	breast:
3	chr1:185207682..185209698-chr1:185270543..185272755,2	K562	blood:
4	chr1:185207872..185211038-chr1:185284175..185288135,4	K562	blood:
5	chr1:185207707..185208285-chr1:185286926..185287722,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000273004	Chromatin interaction
ENSG00000116679	Chromatin interaction
ENSG00000201421	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10218496	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10489580	0.80[EUR][1000 genomes]
rs10798000	0.80[EUR][1000 genomes]
rs10798003	0.84[ASN][1000 genomes]
rs10798004	0.82[ASN][1000 genomes]
rs10798006	0.80[ASN][1000 genomes]
rs10911693	0.95[EUR][1000 genomes]
rs10911700	0.84[ASN][1000 genomes]
rs12024023	0.84[EUR][1000 genomes]
rs12028408	0.80[EUR][1000 genomes]
rs12096987	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12118722	0.95[EUR][1000 genomes]
rs12119471	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12120377	0.92[EUR][1000 genomes]
rs12127840	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12135172	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12135769	0.83[ASN][1000 genomes]
rs12136040	0.84[ASN][1000 genomes]
rs12404187	0.80[EUR][1000 genomes]
rs1336752	0.91[EUR][1000 genomes]
rs1336753	0.84[ASN][1000 genomes]
rs1591585	0.85[EUR][1000 genomes]
rs1889976	0.84[ASN][1000 genomes]
rs2025227	0.81[EUR][1000 genomes]
rs2095610	0.83[ASN][1000 genomes]
rs2383269	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34611062	0.84[ASN][1000 genomes]
rs3766717	0.84[EUR][1000 genomes]
rs57731138	0.85[EUR][1000 genomes]
rs57977436	0.84[ASN][1000 genomes]
rs6424972	0.80[EUR][1000 genomes]
rs6424974	0.95[EUR][1000 genomes]
rs6660169	0.82[EUR][1000 genomes]
rs6666742	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6673303	0.85[EUR][1000 genomes]
rs6682891	0.80[ASN][1000 genomes]
rs7512245	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7533198	0.81[EUR][1000 genomes]
rs7535064	0.92[EUR][1000 genomes]
rs7535261	0.88[EUR][1000 genomes]
rs7537341	0.83[ASN][1000 genomes]
rs7539575	0.84[ASN][1000 genomes]
rs7539658	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7542721	0.84[ASN][1000 genomes]
rs7550586	0.95[EUR][1000 genomes]
rs7552662	0.81[EUR][1000 genomes]
rs7553819	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs951428	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185127600-185218200	Weak transcription	Right Ventricle	heart
2	chr1:185170800-185218200	Weak transcription	Pancreas	Pancrea
3	chr1:185175600-185217000	Weak transcription	Fetal Stomach	stomach
4	chr1:185178400-185208600	Weak transcription	Small Intestine	intestine
5	chr1:185192400-185208200	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr1:185192400-185209000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr1:185192600-185218600	Weak transcription	Aorta	Aorta
8	chr1:185192600-185221000	Weak transcription	Fetal Intestine Small	intestine
9	chr1:185193600-185213200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:185193600-185213400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:185193600-185214600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr1:185193600-185219200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:185193600-185219400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:185193800-185220400	Weak transcription	Brain Hippocampus Middle	brain
15	chr1:185193800-185263600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr1:185194000-185218600	Weak transcription	Lung	lung
17	chr1:185194200-185213400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:185196600-185209200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr1:185197200-185218200	Weak transcription	Left Ventricle	heart
20	chr1:185197600-185220400	Weak transcription	Ovary	ovary
21	chr1:185198800-185210400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr1:185199800-185213200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:185202400-185218800	Weak transcription	Brain Anterior Caudate	brain
24	chr1:185206400-185218200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr1:185207400-185210600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr1:185207600-185210400	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr1:185207600-185211800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr1:185208000-185210200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr1:185208000-185211000	Enhancers	Primary T cells from cord blood	blood

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