Variant report

Variant	rs10493747
Chromosome Location	chr1:84903286-84903287
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:84902465..84904153-chr1:84904370..84905923,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10874438	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11163962	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12049602	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12118984	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12406723	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1246330	0.88[EUR][1000 genomes]
rs1246331	0.86[EUR][1000 genomes]
rs1588037	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17131704	0.95[ASN][1000 genomes]
rs500565	0.93[CEU][hapmap];0.85[GIH][hapmap];0.82[TSI][hapmap];0.89[EUR][1000 genomes]
rs558268	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs646681	0.82[GIH][hapmap];0.87[JPT][hapmap]
rs6576704	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6661172	0.93[CEU][hapmap];0.88[YRI][hapmap];0.94[EUR][1000 genomes]
rs667923	0.93[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.89[TSI][hapmap];0.88[YRI][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs679152	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7511984	0.93[CEU][hapmap];0.89[TSI][hapmap];0.88[YRI][hapmap];0.94[EUR][1000 genomes]
rs7512262	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7514601	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7515964	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7516125	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7541465	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7547088	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7548231	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9432829	0.95[ASN][1000 genomes]
rs9433225	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10493747	HS2ST1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84899600-84907800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr1:84899600-84908200	Weak transcription	Stomach Mucosa	stomach
3	chr1:84899600-84908400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr1:84899800-84907800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:84901200-84903800	Enhancers	Brain Anterior Caudate	brain
6	chr1:84901200-84908800	Weak transcription	NHLF	lung
7	chr1:84901400-84904000	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr1:84901400-84907400	Weak transcription	Duodenum Mucosa	Duodenum
9	chr1:84901400-84907600	Weak transcription	Dnd41	blood
10	chr1:84901600-84903800	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr1:84901600-84908200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr1:84901800-84903600	Enhancers	Fetal Brain Male	brain
13	chr1:84902000-84903400	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr1:84902000-84908400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:84902200-84903600	Enhancers	Brain Cingulate Gyrus	brain
16	chr1:84902400-84903400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:84902400-84903400	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr1:84902400-84903800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:84902400-84903800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr1:84902600-84903800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:84902600-84903800	Enhancers	Brain Substantia Nigra	brain
22	chr1:84902600-84903800	Enhancers	Thymus	Thymus
23	chr1:84902800-84903400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr1:84902800-84903400	Flanking Active TSS	Brain Hippocampus Middle	brain
25	chr1:84902800-84903400	Enhancers	GM12878-XiMat	blood
26	chr1:84902800-84903600	Active TSS	Primary T killer memory cells from peripheral blood	blood
27	chr1:84902800-84903800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr1:84902800-84903800	Enhancers	Fetal Brain Female	brain
29	chr1:84902800-84903800	Enhancers	Fetal Thymus	thymus
30	chr1:84902800-84903800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr1:84902800-84908000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr1:84903000-84903400	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr1:84903000-84903400	Flanking Active TSS	Primary hematopoietic stem cells	blood
34	chr1:84903000-84903400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
35	chr1:84903000-84903400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
36	chr1:84903000-84903400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
37	chr1:84903000-84903400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:84903000-84903400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
39	chr1:84903000-84903400	Enhancers	Aorta	Aorta
40	chr1:84903000-84903400	Bivalent Enhancer	Fetal Lung	lung
41	chr1:84903000-84903600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
42	chr1:84903000-84903600	Enhancers	Brain Angular Gyrus	brain
43	chr1:84903000-84903800	Flanking Active TSS	Primary T cells from cord blood	blood
44	chr1:84903000-84904000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr1:84903200-84903400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:84903200-84903400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
47	chr1:84903200-84903600	Flanking Active TSS	Primary B cells from peripheral blood	blood
48	chr1:84903200-84903600	Active TSS	Primary T cells fromperipheralblood	blood
49	chr1:84903200-84903600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
50	chr1:84903200-84903800	Enhancers	Fetal Heart	heart

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