Variant report

Variant	rs12829833
Chromosome Location	chr12:51046224-51046225
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:51046139-51046238	ProgFib	skin:	n/a	n/a
2	CTCF	chr12:51046218-51046251	Fibrobl	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:51037746..51039800-chr12:51044028..51046739,2	MCF-7	breast:
2	chr12:51045033..51047278-chr20:52389082..52391605,2	MCF-7	breast:

Variant related genes	Relation type
RNU6-238P	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1047912	0.84[EUR][1000 genomes]
rs11169520	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11169530	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7309964	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7955736	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12829833	CERS5	cis	Nerve Tibial	GTEx
rs12829833	DIP2B	Cis_1M	lymphoblastoid	RTeQTL
rs12829833	ATF1	cis	Artery Tibial	GTEx

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51013400-51055200	Weak transcription	Aorta	Aorta
2	chr12:51015600-51075800	Weak transcription	Colonic Mucosa	Colon
3	chr12:51016000-51065000	Weak transcription	Esophagus	oesophagus
4	chr12:51019600-51046400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr12:51022000-51065200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr12:51022000-51068400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr12:51022400-51055200	Weak transcription	Ovary	ovary
8	chr12:51022600-51054000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr12:51022600-51064600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr12:51028400-51092400	Weak transcription	Gastric	stomach
11	chr12:51030800-51064800	Weak transcription	Spleen	Spleen
12	chr12:51030800-51065000	Weak transcription	Left Ventricle	heart
13	chr12:51031400-51058800	Weak transcription	Small Intestine	intestine
14	chr12:51031400-51064800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr12:51031800-51068200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr12:51032200-51065000	Weak transcription	Fetal Lung	lung
17	chr12:51032200-51069000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr12:51032600-51055000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr12:51034200-51053400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr12:51035600-51053600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr12:51035600-51054000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr12:51035600-51064600	Weak transcription	Lung	lung
23	chr12:51036000-51068200	Weak transcription	Thymus	Thymus
24	chr12:51036200-51052600	Weak transcription	Dnd41	blood
25	chr12:51036200-51052800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr12:51036200-51054000	Weak transcription	Fetal Thymus	thymus
27	chr12:51036200-51054400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:51036200-51054400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:51036200-51055400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr12:51036200-51057800	Weak transcription	Hela-S3	cervix
31	chr12:51036200-51068200	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr12:51036800-51070000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr12:51037000-51058200	Weak transcription	Fetal Intestine Small	intestine
34	chr12:51037200-51054000	Weak transcription	Adipose Nuclei	Adipose
35	chr12:51037600-51053000	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr12:51037600-51054000	Weak transcription	Fetal Muscle Leg	muscle
37	chr12:51038000-51053800	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr12:51038000-51064800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr12:51038200-51053800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr12:51038200-51054000	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr12:51038200-51055200	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr12:51038200-51055400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr12:51038400-51048200	Weak transcription	HepG2	liver
44	chr12:51038400-51053600	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr12:51038600-51053000	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr12:51038600-51053200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr12:51038600-51054000	Weak transcription	Primary hematopoietic stem cells	blood
48	chr12:51039600-51052800	Weak transcription	Liver	Liver
49	chr12:51039600-51054000	Weak transcription	Placenta	Placenta
50	chr12:51039600-51054200	Weak transcription	Primary B cells from cord blood	blood

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