Variant report

Variant	rs2484446
Chromosome Location	chr1:179290195-179290196
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:179266326..179267837-chr1:179289291..179292001,2	MCF-7	breast:
2	chr1:179288088..179290753-chr1:179291190..179293971,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10798655	0.88[ASN][1000 genomes]
rs12725375	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12749666	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2050450	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2050451	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2152318	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2247061	0.98[ASN][1000 genomes]
rs2248979	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2250352	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2250477	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2254214	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2254580	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2254623	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2255375	0.94[AFR][1000 genomes]
rs2257089	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2257100	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2484440	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2484443	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2492777	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2492778	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2493116	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2493117	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2493118	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2493119	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2783391	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2783392	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2783393	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs404818	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs433722	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4652364	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56371666	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61824366	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6425530	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7523431	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	nsv1005278	chr1:179197645-179371395	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179263800-179304600	Weak transcription	Lung	lung
2	chr1:179263800-179306400	Weak transcription	Gastric	stomach
3	chr1:179264200-179290200	Weak transcription	Aorta	Aorta
4	chr1:179264600-179292000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr1:179264600-179304600	Weak transcription	Right Ventricle	heart
6	chr1:179264600-179310200	Weak transcription	Brain Substantia Nigra	brain
7	chr1:179264600-179314000	Weak transcription	Brain Angular Gyrus	brain
8	chr1:179264600-179314000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr1:179264800-179313800	Weak transcription	Brain Hippocampus Middle	brain
10	chr1:179264800-179313800	Weak transcription	Fetal Brain Female	brain
11	chr1:179264800-179334200	Weak transcription	Colon Smooth Muscle	Colon
12	chr1:179266400-179322800	Weak transcription	Small Intestine	intestine
13	chr1:179268400-179312000	Weak transcription	Fetal Thymus	thymus
14	chr1:179272600-179313800	Weak transcription	Brain Anterior Caudate	brain
15	chr1:179273000-179311600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr1:179273200-179290400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr1:179273200-179294600	Weak transcription	Placenta	Placenta
18	chr1:179273800-179293400	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr1:179274600-179302400	Weak transcription	Left Ventricle	heart
20	chr1:179274600-179304400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr1:179274600-179306000	Weak transcription	Stomach Smooth Muscle	stomach
22	chr1:179275600-179311600	Weak transcription	HUVEC	blood vessel
23	chr1:179276400-179306200	Weak transcription	Fetal Muscle Trunk	muscle
24	chr1:179276600-179304800	Weak transcription	Pancreas	Pancrea
25	chr1:179276800-179290200	Weak transcription	Fetal Intestine Large	intestine
26	chr1:179276800-179295200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr1:179277000-179290400	Weak transcription	Dnd41	blood
28	chr1:179277000-179291600	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr1:179277600-179296400	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr1:179280400-179292000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr1:179280400-179296200	Weak transcription	NH-A	brain
32	chr1:179280400-179314000	Weak transcription	NHLF	lung
33	chr1:179280600-179292400	Weak transcription	HMEC	breast
34	chr1:179280600-179292800	Weak transcription	NHDF-Ad	bronchial
35	chr1:179280600-179293400	Weak transcription	Osteobl	bone
36	chr1:179280600-179299000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:179281200-179300200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:179282000-179291400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr1:179282000-179313000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr1:179282200-179295200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr1:179282400-179290200	Weak transcription	Primary hematopoietic stem cells	blood
42	chr1:179282400-179290400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr1:179282400-179290600	Weak transcription	A549	lung
44	chr1:179282400-179290800	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr1:179282400-179291600	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr1:179282400-179291800	Weak transcription	Adipose Nuclei	Adipose
47	chr1:179282400-179292000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:179282400-179292800	Weak transcription	Primary B cells from peripheral blood	blood
49	chr1:179282400-179304200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr1:179282400-179313800	Weak transcription	HSMMtube	muscle

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