Variant report

Variant	rs3818239
Chromosome Location	chr14:64914537-64914538
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:64853961..64855505-chr14:64914376..64916038,2	K562	blood:

Variant related genes	Relation type
ENSG00000100714	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11621442	0.99[ASN][1000 genomes]
rs11622591	0.91[CHB][hapmap]
rs11627525	1.00[CHB][hapmap]
rs11629135	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.85[MKK][hapmap];0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17824827	0.91[CEU][hapmap]
rs2236222	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs35287494	1.00[CEU][hapmap];1.00[GIH][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes]
rs3742609	1.00[CHB][hapmap];0.93[CHD][hapmap];0.85[ASN][1000 genomes]
rs57503834	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs727757	0.91[EUR][1000 genomes]
rs8003567	1.00[CHB][hapmap];0.82[MEX][hapmap];0.81[ASN][1000 genomes]
rs8007506	0.91[EUR][1000 genomes]
rs8012229	1.00[CHB][hapmap];0.92[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3818239	MTHFD1	cis	cerebellum	SCAN
rs3818239	SPTB	cis	cerebellum	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64856200-64931200	Weak transcription	Stomach Mucosa	stomach
2	chr14:64861800-64931600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:64867200-64927000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr14:64867200-64929600	Strong transcription	Dnd41	blood
5	chr14:64874000-64928400	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr14:64877000-64927000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr14:64877000-64929400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr14:64877400-64928200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr14:64877800-64929200	Strong transcription	H1 Cell Line	embryonic stem cell
10	chr14:64878200-64921200	Strong transcription	Liver	Liver
11	chr14:64881600-64929000	Strong transcription	Fetal Thymus	thymus
12	chr14:64888000-64923000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr14:64888400-64920400	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr14:64891200-64928600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr14:64898600-64916000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:64900400-64931800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr14:64905200-64920200	Weak transcription	Psoas Muscle	Psoas
18	chr14:64905800-64917000	Strong transcription	NHEK	skin
19	chr14:64905800-64931400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr14:64907400-64920200	Weak transcription	Brain Substantia Nigra	brain
21	chr14:64907800-64921400	Weak transcription	Fetal Brain Male	brain
22	chr14:64909400-64921200	Weak transcription	Right Ventricle	heart
23	chr14:64909600-64915000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr14:64910600-64914600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr14:64910600-64916000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr14:64910600-64931200	Weak transcription	Fetal Heart	heart
27	chr14:64911000-64914800	Enhancers	Primary T cells fromperipheralblood	blood
28	chr14:64911200-64914800	Weak transcription	Brain Hippocampus Middle	brain
29	chr14:64911200-64915000	Weak transcription	Aorta	Aorta
30	chr14:64911200-64921200	Weak transcription	Colonic Mucosa	Colon
31	chr14:64911200-64931400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr14:64911400-64914800	Weak transcription	Thymus	Thymus
33	chr14:64911400-64915000	Weak transcription	Pancreas	Pancrea
34	chr14:64911400-64915000	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr14:64911600-64914600	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr14:64911600-64914800	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr14:64911600-64916200	Weak transcription	Esophagus	oesophagus
38	chr14:64911800-64915000	Weak transcription	K562	blood
39	chr14:64911800-64915200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr14:64911800-64920600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr14:64911800-64931400	Weak transcription	Colon Smooth Muscle	Colon
42	chr14:64912000-64914600	Weak transcription	Left Ventricle	heart
43	chr14:64912000-64914800	Weak transcription	Primary hematopoietic stem cells	blood
44	chr14:64912000-64914800	Weak transcription	Fetal Brain Female	brain
45	chr14:64912000-64914800	Weak transcription	Gastric	stomach
46	chr14:64912000-64915000	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr14:64912000-64915000	Weak transcription	Brain Germinal Matrix	brain
48	chr14:64912000-64915000	Weak transcription	Placenta	Placenta
49	chr14:64912000-64915800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr14:64912000-64920400	Weak transcription	Spleen	Spleen

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