Variant report

Variant	rs789729
Chromosome Location	chr12:64512740-64512741
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:64353947..64356633-chr12:64510902..64512788,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1067637	0.83[CHB][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10747997	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10747998	0.81[EUR][1000 genomes]
rs10878105	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2279666	0.88[ASN][1000 genomes]
rs4763138	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs789722	0.83[CHB][hapmap];0.80[JPT][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs789724	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs789731	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs789741	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs790193	0.83[CHB][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[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:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64474800-64521400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:64477400-64520800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr12:64483000-64521400	Weak transcription	Liver	Liver
4	chr12:64483200-64520800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr12:64483200-64521400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr12:64483600-64519800	Weak transcription	Gastric	stomach
7	chr12:64483600-64521400	Weak transcription	Lung	lung
8	chr12:64487400-64526600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:64491800-64523600	Weak transcription	HUVEC	blood vessel
10	chr12:64492400-64515400	Weak transcription	Brain Anterior Caudate	brain
11	chr12:64493000-64515800	Weak transcription	Brain Hippocampus Middle	brain
12	chr12:64493200-64523600	Weak transcription	Brain Angular Gyrus	brain
13	chr12:64493600-64518800	Weak transcription	Fetal Brain Male	brain
14	chr12:64494000-64514200	Weak transcription	Hela-S3	cervix
15	chr12:64494000-64521400	Weak transcription	Psoas Muscle	Psoas
16	chr12:64494200-64521400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr12:64496400-64520800	Weak transcription	Spleen	Spleen
18	chr12:64498400-64538400	Weak transcription	Small Intestine	intestine
19	chr12:64498600-64521400	Weak transcription	NH-A	brain
20	chr12:64499000-64521400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr12:64499800-64514000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:64502400-64513000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr12:64503200-64521400	Weak transcription	Brain Substantia Nigra	brain
24	chr12:64504000-64519800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr12:64504200-64515800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr12:64504200-64520800	Weak transcription	Right Ventricle	heart
27	chr12:64504400-64519800	Weak transcription	Fetal Muscle Leg	muscle
28	chr12:64505000-64513000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr12:64505000-64518000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:64505400-64513000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:64505800-64519600	Weak transcription	Left Ventricle	heart
32	chr12:64506200-64521200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr12:64506400-64521400	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr12:64506600-64527000	Weak transcription	Colon Smooth Muscle	Colon
35	chr12:64506800-64519600	Weak transcription	Adipose Nuclei	Adipose
36	chr12:64506800-64521400	Weak transcription	Duodenum Mucosa	Duodenum
37	chr12:64506800-64521400	Weak transcription	Fetal Kidney	kidney
38	chr12:64506800-64521400	Weak transcription	Fetal Lung	lung
39	chr12:64506800-64527200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr12:64508200-64514000	Weak transcription	HMEC	breast
41	chr12:64508400-64513000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr12:64509400-64519600	Weak transcription	HSMMtube	muscle
43	chr12:64509600-64514000	Weak transcription	NHEK	skin
44	chr12:64510000-64519600	Weak transcription	Ovary	ovary
45	chr12:64510200-64519800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr12:64510200-64519800	Weak transcription	Fetal Muscle Trunk	muscle
47	chr12:64510600-64515400	Weak transcription	Osteobl	bone
48	chr12:64510600-64521400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr12:64510600-64527200	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr12:64510800-64514000	Weak transcription	A549	lung

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