Variant report

Variant	rs17374048
Chromosome Location	chr1:84945339-84945340
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:84943777..84946552-chr1:84970497..84973179,2	MCF-7	breast:
2	chr1:84765283..84767308-chr1:84944913..84946542,2	K562	blood:
3	chr1:84944714..84945366-chr15:68569938..68570534,2	Hela-S3	cervix:
4	chr1:84943714..84946459-chr1:85038706..85040687,2	K562	blood:
5	chr1:84943703..84948095-chr1:85037647..85043843,8	K562	blood:
6	chr1:84765808..84767323-chr1:84944913..84947326,2	K562	blood:
7	chr1:84944684..84947410-chr1:84970225..84973395,6	MCF-7	breast:
8	chr1:84940376..84943283-chr1:84945216..84947221,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000174021	Chromatin interaction
ENSG00000203943	Chromatin interaction
ENSG00000117151	Chromatin interaction
ENSG00000260657	Chromatin interaction
ENSG00000169018	Chromatin interaction
ENSG00000122432	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1395418	0.91[CEU][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17365681	0.86[CEU][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17365723	0.91[CEU][hapmap];0.94[EUR][1000 genomes]
rs17374753	0.91[CEU][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17540101	0.91[CEU][hapmap];0.98[EUR][1000 genomes]
rs312403	0.94[EUR][1000 genomes]
rs41284589	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs41284591	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs41284599	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs41293029	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs41302796	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4512665	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs4907081	0.91[CEU][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72946368	0.96[EUR][1000 genomes]
rs72946369	0.98[EUR][1000 genomes]
rs72946390	0.98[EUR][1000 genomes]
rs72948408	0.98[EUR][1000 genomes]
rs72948421	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72948483	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9432839	0.90[CEU][hapmap]

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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84944000-84945800	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr1:84944200-84945400	Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr1:84944200-84945800	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr1:84944200-84946000	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr1:84944200-84946200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:84944200-84946200	Active TSS	Muscle Satellite Cultured Cells	--
7	chr1:84944200-84946200	Active TSS	A549	lung
8	chr1:84944200-84946400	Active TSS	Stomach Smooth Muscle	stomach
9	chr1:84944400-84945400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr1:84944400-84945800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:84944400-84945800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:84944400-84945800	Active TSS	Liver	Liver
13	chr1:84944400-84945800	Active TSS	Brain Substantia Nigra	brain
14	chr1:84944400-84945800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
15	chr1:84944400-84945800	Active TSS	Fetal Brain Male	brain
16	chr1:84944400-84945800	Active TSS	Left Ventricle	heart
17	chr1:84944400-84945800	Active TSS	Rectal Mucosa Donor 31	rectum
18	chr1:84944400-84945800	Active TSS	NH-A	brain
19	chr1:84944400-84945800	Active TSS	Osteobl	bone
20	chr1:84944400-84946000	Active TSS	H9 Cell Line	embryonic stem cell
21	chr1:84944400-84946000	Active TSS	Ovary	ovary
22	chr1:84944400-84946000	Active TSS	Stomach Mucosa	stomach
23	chr1:84944400-84946200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:84944400-84946200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:84944400-84946200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr1:84944400-84946200	Active TSS	Colonic Mucosa	Colon
27	chr1:84944400-84946200	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr1:84944400-84946200	Active TSS	Hela-S3	cervix
29	chr1:84944400-84946200	Active TSS	HSMM	muscle
30	chr1:84944400-84946200	Active TSS	HSMMtube	muscle
31	chr1:84944400-84946400	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr1:84944400-84946400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:84944400-84946400	Active TSS	NHLF	lung
34	chr1:84944400-84946600	Active TSS	Psoas Muscle	Psoas
35	chr1:84944400-84946600	Active TSS	NHDF-Ad	bronchial
36	chr1:84944400-84947000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr1:84944600-84945400	Active TSS	Primary B cells from cord blood	blood
38	chr1:84944600-84945600	Flanking Active TSS	Primary hematopoietic stem cells	blood
39	chr1:84944600-84945600	Active TSS	Cortex derived primary cultured neurospheres	brain
40	chr1:84944600-84945600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr1:84944600-84945600	Active TSS	Thymus	Thymus
42	chr1:84944600-84945800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr1:84944600-84945800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr1:84944600-84945800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr1:84944600-84945800	Active TSS	Brain Cingulate Gyrus	brain
46	chr1:84944600-84945800	Active TSS	Colon Smooth Muscle	Colon
47	chr1:84944600-84945800	Active TSS	Fetal Brain Female	brain
48	chr1:84944600-84945800	Active TSS	Pancreas	Pancrea
49	chr1:84944600-84946000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr1:84944600-84946000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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