Variant report

Variant	rs7548231
Chromosome Location	chr1:84900093-84900094
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:84606627..84607493-chr1:84899132..84900125,4	MCF-7	breast:
2	chr1:84888633..84891010-chr1:84899091..84900892,2	K562	blood:
3	chr1:84894566..84897091-chr1:84898003..84900258,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10493747	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10874438	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11163962	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12049602	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12118984	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12406723	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1246330	0.90[EUR][1000 genomes]
rs1246331	0.88[EUR][1000 genomes]
rs1588037	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17131704	0.91[ASN][1000 genomes]
rs500565	0.92[EUR][1000 genomes]
rs558268	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6576704	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6661172	0.96[EUR][1000 genomes]
rs667923	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs679152	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7511984	0.96[EUR][1000 genomes]
rs7512262	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7514601	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7515964	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7516125	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7541465	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7547088	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9432829	0.91[ASN][1000 genomes]
rs9433225	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[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	nsv830437	chr1:84837524-85001269	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84893400-84902400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:84898400-84903000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:84899000-84900400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr1:84899000-84900400	Enhancers	Hela-S3	cervix
5	chr1:84899000-84900600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:84899000-84901000	Enhancers	HMEC	breast
7	chr1:84899200-84901200	Enhancers	NHEK	skin
8	chr1:84899400-84901000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:84899600-84900200	Enhancers	Liver	Liver
10	chr1:84899600-84900400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:84899600-84900400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr1:84899600-84900400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:84899600-84900400	Weak transcription	NHDF-Ad	bronchial
14	chr1:84899600-84900400	Weak transcription	Osteobl	bone
15	chr1:84899600-84900600	Weak transcription	Primary B cells from cord blood	blood
16	chr1:84899600-84900600	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr1:84899600-84900600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr1:84899600-84900600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr1:84899600-84900600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr1:84899600-84900600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr1:84899600-84900800	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr1:84899600-84900800	Enhancers	Primary T cells fromperipheralblood	blood
23	chr1:84899600-84900800	Enhancers	Primary hematopoietic stem cells	blood
24	chr1:84899600-84900800	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr1:84899600-84900800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr1:84899600-84900800	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr1:84899600-84901000	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr1:84899600-84901200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr1:84899600-84901600	Enhancers	GM12878-XiMat	blood
30	chr1:84899600-84901800	Weak transcription	Fetal Brain Male	brain
31	chr1:84899600-84901800	Enhancers	Thymus	Thymus
32	chr1:84899600-84902200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr1:84899600-84902400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr1:84899600-84902400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr1:84899600-84902400	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr1:84899600-84902400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr1:84899600-84902600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr1:84899600-84902600	Weak transcription	Adipose Nuclei	Adipose
39	chr1:84899600-84902800	Weak transcription	Fetal Thymus	thymus
40	chr1:84899600-84903000	Weak transcription	Brain Angular Gyrus	brain
41	chr1:84899600-84903200	Enhancers	Primary B cells from peripheral blood	blood
42	chr1:84899600-84907800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr1:84899600-84908200	Weak transcription	Stomach Mucosa	stomach
44	chr1:84899600-84908400	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr1:84899800-84900400	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr1:84899800-84900400	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr1:84899800-84900400	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr1:84899800-84900600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr1:84899800-84900600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr1:84899800-84900800	Enhancers	Brain Hippocampus Middle	brain

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