Variant report

Variant	rs12471094
Chromosome Location	chr2:172322924-172322925
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:172289629..172291155-chr2:172321801..172323428,2	MCF-7	breast:
2	chr2:172318733..172322124-chr2:172322781..172324882,3	K562	blood:
3	chr2:172320298..172323266-chr2:172328562..172330694,2	K562	blood:
4	chr2:172289494..172292410-chr2:172320971..172325316,3	K562	blood:
5	chr2:172288832..172292910-chr2:172322388..172326341,4	K562	blood:

Variant related genes	Relation type
ENSG00000123600	Chromatin interaction
ENSG00000115827	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10460358	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10930473	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11677562	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11679641	1.00[JPT][hapmap];0.89[YRI][hapmap]
rs12052810	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12465868	1.00[JPT][hapmap]
rs12469151	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12616940	0.83[AMR][1000 genomes]
rs1558963	0.95[JPT][hapmap]
rs17285260	1.00[JPT][hapmap];0.89[YRI][hapmap]
rs17285688	0.80[JPT][hapmap]
rs1921776	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2058927	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2356709	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs62181358	0.81[AMR][1000 genomes]
rs6747400	0.95[JPT][hapmap]
rs7590275	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs997666	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv1832950	chr2:172283513-172488111	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12471094	CYBRD1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172291800-172338200	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr2:172292000-172341600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:172298200-172326600	Weak transcription	Colonic Mucosa	Colon
4	chr2:172298400-172325400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:172298400-172325600	Weak transcription	Hela-S3	cervix
6	chr2:172298400-172326200	Weak transcription	NHEK	skin
7	chr2:172298400-172334400	Weak transcription	Small Intestine	intestine
8	chr2:172298400-172339400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:172298600-172341400	Weak transcription	NHLF	lung
10	chr2:172299400-172325400	Weak transcription	Gastric	stomach
11	chr2:172300600-172338600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr2:172304800-172325200	Weak transcription	Brain Angular Gyrus	brain
13	chr2:172304800-172325200	Weak transcription	Pancreas	Pancrea
14	chr2:172304800-172330000	Weak transcription	NH-A	brain
15	chr2:172304800-172338800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr2:172305000-172326400	Weak transcription	Lung	lung
17	chr2:172305800-172325200	Weak transcription	Aorta	Aorta
18	chr2:172305800-172325400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr2:172306000-172348000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr2:172306800-172325200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr2:172306800-172325800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr2:172306800-172334000	Weak transcription	Psoas Muscle	Psoas
23	chr2:172307400-172325400	Weak transcription	Thymus	Thymus
24	chr2:172307600-172325800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr2:172307600-172325800	Weak transcription	Colon Smooth Muscle	Colon
26	chr2:172307800-172325000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr2:172307800-172341200	Weak transcription	Right Ventricle	heart
28	chr2:172308200-172325800	Weak transcription	Brain Anterior Caudate	brain
29	chr2:172309400-172325800	Weak transcription	Stomach Smooth Muscle	stomach
30	chr2:172309600-172325400	Weak transcription	Brain Cingulate Gyrus	brain
31	chr2:172309600-172348400	Weak transcription	Fetal Heart	heart
32	chr2:172309800-172325200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr2:172309800-172325400	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr2:172312000-172325400	Weak transcription	Fetal Stomach	stomach
35	chr2:172312000-172325800	Weak transcription	Fetal Brain Male	brain
36	chr2:172312400-172325400	Weak transcription	Brain Substantia Nigra	brain
37	chr2:172312600-172326800	Weak transcription	Ovary	ovary
38	chr2:172313000-172325400	Weak transcription	Fetal Brain Female	brain
39	chr2:172313000-172325800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr2:172313200-172325600	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr2:172313400-172339800	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr2:172314600-172326400	Weak transcription	Spleen	Spleen
43	chr2:172314600-172326600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr2:172315000-172325200	Weak transcription	Fetal Muscle Leg	muscle
45	chr2:172315000-172325400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr2:172315000-172325400	Weak transcription	Placenta	Placenta
47	chr2:172315000-172325400	Weak transcription	Left Ventricle	heart
48	chr2:172315000-172326400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:172315000-172326800	Weak transcription	Fetal Lung	lung
50	chr2:172315000-172337400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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