Variant report

Variant	rs12711793
Chromosome Location	chr2:114722802-114722803
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:114710116..114712453-chr2:114720716..114724281,3	K562	blood:
2	chr2:114647451..114650065-chr2:114720582..114723379,2	K562	blood:
3	chr2:114717441..114718963-chr2:114722570..114724264,2	K562	blood:
4	chr2:114719759..114724600-chr2:114725495..114731130,7	K562	blood:

Variant related genes	Relation type
ENSG00000115091	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12618768	0.88[JPT][hapmap]
rs1825738	0.88[JPT][hapmap]
rs2419081	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6705687	0.88[JPT][hapmap]
rs7558402	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs901466	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs904498	0.82[JPT][hapmap]
rs974057	0.88[JPT][hapmap]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12711793	CHCHD5	cis	cerebellum	SCAN
rs12711793	ACTR3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114653600-114734800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:114668400-114735000	Weak transcription	Stomach Mucosa	stomach
3	chr2:114672000-114723200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:114682600-114723400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr2:114682600-114725000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:114705200-114731200	Weak transcription	Lung	lung
7	chr2:114705200-114733000	Weak transcription	Pancreas	Pancrea
8	chr2:114705200-114734200	Weak transcription	Right Ventricle	heart
9	chr2:114705200-114736000	Weak transcription	Gastric	stomach
10	chr2:114705200-114737600	Weak transcription	Esophagus	oesophagus
11	chr2:114706200-114723000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:114706200-114723600	Weak transcription	Brain Hippocampus Middle	brain
13	chr2:114706200-114723800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr2:114706200-114731400	Weak transcription	Aorta	Aorta
15	chr2:114706200-114731400	Weak transcription	Spleen	Spleen
16	chr2:114707400-114726800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:114709200-114731200	Weak transcription	Fetal Kidney	kidney
18	chr2:114710400-114728000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr2:114710400-114735800	Weak transcription	Colonic Mucosa	Colon
20	chr2:114710600-114725400	Weak transcription	Small Intestine	intestine
21	chr2:114710600-114727400	Weak transcription	Thymus	Thymus
22	chr2:114711200-114735400	Weak transcription	Fetal Lung	lung
23	chr2:114711800-114735400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr2:114713400-114723600	Weak transcription	Brain Substantia Nigra	brain
25	chr2:114713600-114732800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr2:114713800-114724200	Weak transcription	Fetal Intestine Small	intestine
27	chr2:114713800-114731400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:114713800-114732200	Weak transcription	Fetal Muscle Leg	muscle
29	chr2:114713800-114734600	Weak transcription	Fetal Muscle Trunk	muscle
30	chr2:114713800-114735200	Weak transcription	Ovary	ovary
31	chr2:114713800-114736200	Weak transcription	Fetal Stomach	stomach
32	chr2:114714400-114735200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr2:114714800-114723800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr2:114714800-114732800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr2:114715000-114724000	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr2:114715000-114744000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr2:114715200-114724000	Weak transcription	Rectal Smooth Muscle	rectum
38	chr2:114715200-114724400	Weak transcription	Fetal Intestine Large	intestine
39	chr2:114715200-114728400	Weak transcription	Duodenum Mucosa	Duodenum
40	chr2:114715200-114735600	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr2:114715400-114724400	Weak transcription	Colon Smooth Muscle	Colon
42	chr2:114715600-114723400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr2:114715600-114723800	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr2:114715600-114724000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr2:114715600-114732800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr2:114715600-114734800	Weak transcription	Left Ventricle	heart
47	chr2:114715600-114735400	Weak transcription	K562	blood
48	chr2:114715600-114737000	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr2:114715800-114723200	Weak transcription	HepG2	liver
50	chr2:114715800-114724000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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