Variant report

Variant	rs12631145
Chromosome Location	chr3:69263790-69263791
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	chr3:69261818..69263974-chr3:69274999..69277615,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11128120	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11709719	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12636686	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13088684	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34233715	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4290807	0.84[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs4422317	0.81[EUR][1000 genomes]
rs4521234	0.86[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs4566538	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4635709	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5028095	0.86[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs6771291	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7433337	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9848667	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9863613	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][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	esv3398378	chr3:69240573-69271936	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 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	chr3:69232000-69275600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr3:69242400-69281600	Weak transcription	Brain Germinal Matrix	brain
3	chr3:69242600-69268800	Weak transcription	Spleen	Spleen
4	chr3:69244000-69264800	Weak transcription	Fetal Brain Female	brain
5	chr3:69246200-69266800	Weak transcription	HSMM	muscle
6	chr3:69250000-69269200	Weak transcription	Thymus	Thymus
7	chr3:69250000-69272400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr3:69250000-69281600	Weak transcription	Esophagus	oesophagus
9	chr3:69250200-69268800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr3:69250200-69268800	Weak transcription	Ovary	ovary
11	chr3:69250200-69286000	Weak transcription	Colonic Mucosa	Colon
12	chr3:69250400-69264800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:69250400-69268400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr3:69250400-69280000	Weak transcription	Fetal Kidney	kidney
15	chr3:69253000-69266400	Weak transcription	Small Intestine	intestine
16	chr3:69253000-69297600	Weak transcription	Gastric	stomach
17	chr3:69253400-69277400	Weak transcription	Left Ventricle	heart
18	chr3:69253600-69266600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr3:69253600-69267600	Weak transcription	Placenta	Placenta
20	chr3:69254000-69280800	Weak transcription	Pancreas	Pancrea
21	chr3:69254000-69286000	Weak transcription	Right Ventricle	heart
22	chr3:69254600-69299000	Weak transcription	Fetal Brain Male	brain
23	chr3:69256600-69269200	Weak transcription	Adipose Nuclei	Adipose
24	chr3:69259400-69266600	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr3:69260000-69285800	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr3:69260400-69263800	Enhancers	Hela-S3	cervix
27	chr3:69260800-69264000	Genic enhancers	Brain Hippocampus Middle	brain
28	chr3:69261000-69269800	Weak transcription	Fetal Muscle Leg	muscle
29	chr3:69261000-69272800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr3:69261000-69280400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr3:69261800-69263800	Enhancers	Brain Angular Gyrus	brain
32	chr3:69262000-69265600	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr3:69262200-69266200	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr3:69262200-69274200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr3:69262400-69264000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr3:69262400-69264000	Enhancers	A549	lung
37	chr3:69262400-69264200	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr3:69262400-69264600	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr3:69262400-69276000	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr3:69262600-69286200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr3:69262800-69263800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr3:69262800-69264200	Strong transcription	Primary hematopoietic stem cells	blood
43	chr3:69262800-69264200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr3:69262800-69265000	Strong transcription	Fetal Thymus	thymus
45	chr3:69262800-69265200	Strong transcription	Fetal Intestine Small	intestine
46	chr3:69262800-69265200	Strong transcription	Fetal Stomach	stomach
47	chr3:69263000-69263800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr3:69263000-69263800	Genic enhancers	Brain Inferior Temporal Lobe	brain
49	chr3:69263000-69263800	Strong transcription	Fetal Muscle Trunk	muscle
50	chr3:69263000-69263800	Strong transcription	Lung	lung

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