Variant report

Variant	rs263978
Chromosome Location	chr1:45362992-45362993
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	chr1:45361263..45363063-chr1:45377171..45379417,2	K562	blood:
2	chr1:45283637..45285894-chr1:45360968..45364270,3	K562	blood:

Variant related genes	Relation type
ENSG00000266294	Chromatin interaction
ENSG00000202444	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11211076	1.00[CHD][hapmap]
rs12031333	1.00[CHB][hapmap]
rs12141099	0.88[ASW][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap];0.86[AFR][1000 genomes]
rs263955	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs263970	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs263985	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2983716	0.90[MKK][hapmap]
rs3125803	0.85[EUR][1000 genomes]
rs552633	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs640666	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014894	chr1:45139123-45397943	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	414 gene(s)	inside rSNPs	diseases
2	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
3	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
4	nsv915644	chr1:45282802-45696079	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs263978	FAM183A	cis	parietal	SCAN
rs263978	EIF2B3	cis	cerebellum	SCAN

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45334600-45371800	Weak transcription	Gastric	stomach
2	chr1:45345600-45366200	Weak transcription	Esophagus	oesophagus
3	chr1:45345800-45363600	Weak transcription	Colonic Mucosa	Colon
4	chr1:45346400-45363200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr1:45347600-45410800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr1:45350800-45363200	Weak transcription	Right Ventricle	heart
7	chr1:45350800-45363400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:45350800-45364200	Weak transcription	Colon Smooth Muscle	Colon
9	chr1:45350800-45369000	Weak transcription	Brain Angular Gyrus	brain
10	chr1:45350800-45382400	Weak transcription	Pancreas	Pancrea
11	chr1:45350800-45411800	Weak transcription	Left Ventricle	heart
12	chr1:45353000-45374000	Weak transcription	Fetal Heart	heart
13	chr1:45355200-45366400	Weak transcription	Psoas Muscle	Psoas
14	chr1:45355600-45368200	Weak transcription	Fetal Stomach	stomach
15	chr1:45355800-45363800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:45355800-45369000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr1:45355800-45411200	Weak transcription	Fetal Lung	lung
18	chr1:45356000-45363600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr1:45356000-45369000	Weak transcription	Brain Hippocampus Middle	brain
20	chr1:45356000-45373000	Weak transcription	Brain Anterior Caudate	brain
21	chr1:45356000-45407000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr1:45356000-45423800	Weak transcription	Thymus	Thymus
23	chr1:45356400-45390600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr1:45356600-45364000	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr1:45356800-45374600	Weak transcription	Spleen	Spleen
26	chr1:45357200-45365000	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr1:45357200-45388400	Weak transcription	Fetal Intestine Large	intestine
28	chr1:45357400-45364400	Weak transcription	Fetal Brain Male	brain
29	chr1:45357400-45365400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr1:45357400-45390600	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr1:45357400-45411800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr1:45357600-45365600	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr1:45357600-45391600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr1:45357800-45368200	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr1:45357800-45391000	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr1:45358200-45363200	Strong transcription	Primary T cells from cord blood	blood
37	chr1:45358200-45363200	Strong transcription	Liver	Liver
38	chr1:45358200-45363400	Weak transcription	Brain Germinal Matrix	brain
39	chr1:45358200-45368800	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr1:45358200-45396800	Weak transcription	Fetal Intestine Small	intestine
41	chr1:45359000-45369000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr1:45359000-45369000	Weak transcription	Fetal Kidney	kidney
43	chr1:45359000-45411800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr1:45359200-45364800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:45359200-45367200	Weak transcription	Fetal Muscle Trunk	muscle
46	chr1:45359200-45369000	Weak transcription	HSMMtube	muscle
47	chr1:45359200-45390200	Weak transcription	HSMM	muscle
48	chr1:45359200-45390600	Weak transcription	Dnd41	blood
49	chr1:45359200-45396800	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr1:45359200-45423600	Weak transcription	Primary T cells fromperipheralblood	blood

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