Variant report

Variant	rs74099281
Chromosome Location	chr12:64504836-64504837
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11832841	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11835401	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11835930	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11838032	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17100093	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17100102	0.82[ASN][1000 genomes]
rs17100105	0.82[ASN][1000 genomes]
rs2270731	0.84[ASN][1000 genomes]
rs35994401	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3803105	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57729579	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59228761	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59329353	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59776688	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7298523	0.84[ASN][1000 genomes]
rs73321318	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73321360	0.82[ASN][1000 genomes]
rs73321378	0.82[ASN][1000 genomes]
rs74099279	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74099280	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs789734	0.82[ASN][1000 genomes]
rs789735	0.82[ASN][1000 genomes]
rs7968523	0.94[EUR][1000 genomes];0.92[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:74 , 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	chr12:64483000-64521400	Weak transcription	Liver	Liver
5	chr12:64483200-64520800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr12:64483200-64521400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr12:64483400-64505400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr12:64483600-64519800	Weak transcription	Gastric	stomach
9	chr12:64483600-64521400	Weak transcription	Lung	lung
10	chr12:64487400-64526600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:64489000-64506400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr12:64491800-64523600	Weak transcription	HUVEC	blood vessel
13	chr12:64492400-64515400	Weak transcription	Brain Anterior Caudate	brain
14	chr12:64493000-64515800	Weak transcription	Brain Hippocampus Middle	brain
15	chr12:64493200-64509400	Weak transcription	Fetal Stomach	stomach
16	chr12:64493200-64523600	Weak transcription	Brain Angular Gyrus	brain
17	chr12:64493400-64509200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:64493600-64505200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:64493600-64518800	Weak transcription	Fetal Brain Male	brain
20	chr12:64494000-64514200	Weak transcription	Hela-S3	cervix
21	chr12:64494000-64521400	Weak transcription	Psoas Muscle	Psoas
22	chr12:64494200-64521400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr12:64496400-64520800	Weak transcription	Spleen	Spleen
24	chr12:64498400-64509600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr12:64498400-64538400	Weak transcription	Small Intestine	intestine
26	chr12:64498600-64508600	Weak transcription	HSMMtube	muscle
27	chr12:64498600-64508800	Weak transcription	NHLF	lung
28	chr12:64498600-64509600	Weak transcription	Ovary	ovary
29	chr12:64498600-64521400	Weak transcription	NH-A	brain
30	chr12:64499000-64505200	Weak transcription	Colon Smooth Muscle	Colon
31	chr12:64499000-64521400	Weak transcription	Rectal Smooth Muscle	rectum
32	chr12:64499800-64514000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr12:64502400-64510800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:64502400-64510800	Strong transcription	A549	lung
35	chr12:64502400-64511000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr12:64502400-64513000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr12:64502600-64505600	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr12:64502600-64506000	Strong transcription	NHEK	skin
39	chr12:64502800-64506800	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr12:64502800-64506800	Strong transcription	Adipose Nuclei	Adipose
41	chr12:64503000-64506600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr12:64503200-64505000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr12:64503200-64505200	Genic enhancers	Muscle Satellite Cultured Cells	--
44	chr12:64503200-64506800	Strong transcription	Fetal Lung	lung
45	chr12:64503200-64521400	Weak transcription	Brain Substantia Nigra	brain
46	chr12:64503400-64505000	Genic enhancers	NHDF-Ad	bronchial
47	chr12:64503400-64505800	Strong transcription	Fetal Intestine Large	intestine
48	chr12:64503600-64507600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr12:64503800-64505200	Strong transcription	Left Ventricle	heart
50	chr12:64503800-64505400	Weak transcription	Fetal Kidney	kidney

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