Variant report

Variant	rs2279666
Chromosome Location	chr12:64503028-64503029
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	chr12:64496361..64499639-chr12:64501132..64504183,3	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1067637	0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs10747998	0.80[ASN][1000 genomes]
rs10878105	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4763138	0.81[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs789722	0.81[CEU][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs789724	0.88[ASN][1000 genomes]
rs789729	0.88[ASN][1000 genomes]
rs789731	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs790193	0.95[JPT][hapmap];0.87[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3351487	chr12:64420364-64763950	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64457000-64510600	Weak transcription	HepG2	liver
2	chr12:64474800-64521400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:64477400-64520800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr12:64482800-64503400	Weak transcription	Fetal Intestine Large	intestine
5	chr12:64483000-64521400	Weak transcription	Liver	Liver
6	chr12:64483200-64503400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr12:64483200-64520800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr12:64483200-64521400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr12:64483400-64503600	Weak transcription	Right Ventricle	heart
10	chr12:64483400-64505400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr12:64483600-64503600	Weak transcription	Pancreas	Pancrea
12	chr12:64483600-64519800	Weak transcription	Gastric	stomach
13	chr12:64483600-64521400	Weak transcription	Lung	lung
14	chr12:64486600-64504200	Weak transcription	Fetal Heart	heart
15	chr12:64487400-64526600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr12:64489000-64506400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr12:64491800-64523600	Weak transcription	HUVEC	blood vessel
18	chr12:64492400-64503800	Weak transcription	Fetal Muscle Trunk	muscle
19	chr12:64492400-64515400	Weak transcription	Brain Anterior Caudate	brain
20	chr12:64492800-64503800	Weak transcription	Fetal Intestine Small	intestine
21	chr12:64493000-64503400	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr12:64493000-64515800	Weak transcription	Brain Hippocampus Middle	brain
23	chr12:64493200-64503400	Weak transcription	Brain Germinal Matrix	brain
24	chr12:64493200-64509400	Weak transcription	Fetal Stomach	stomach
25	chr12:64493200-64523600	Weak transcription	Brain Angular Gyrus	brain
26	chr12:64493400-64503800	Weak transcription	Left Ventricle	heart
27	chr12:64493400-64509200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr12:64493600-64503400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr12:64493600-64505200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr12:64493600-64518800	Weak transcription	Fetal Brain Male	brain
31	chr12:64493800-64503800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr12:64494000-64503200	Weak transcription	Fetal Lung	lung
33	chr12:64494000-64514200	Weak transcription	Hela-S3	cervix
34	chr12:64494000-64521400	Weak transcription	Psoas Muscle	Psoas
35	chr12:64494200-64521400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr12:64496400-64520800	Weak transcription	Spleen	Spleen
37	chr12:64498400-64503600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr12:64498400-64509600	Weak transcription	Stomach Smooth Muscle	stomach
39	chr12:64498400-64538400	Weak transcription	Small Intestine	intestine
40	chr12:64498600-64503200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr12:64498600-64503400	Strong transcription	NHDF-Ad	bronchial
42	chr12:64498600-64504000	Weak transcription	Osteobl	bone
43	chr12:64498600-64508600	Weak transcription	HSMMtube	muscle
44	chr12:64498600-64508800	Weak transcription	NHLF	lung
45	chr12:64498600-64509600	Weak transcription	Ovary	ovary
46	chr12:64498600-64521400	Weak transcription	NH-A	brain
47	chr12:64499000-64505200	Weak transcription	Colon Smooth Muscle	Colon
48	chr12:64499000-64521400	Weak transcription	Rectal Smooth Muscle	rectum
49	chr12:64499800-64514000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr12:64500000-64503200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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